3
Behaviour Disorders
The behavior and personality of a child
is the outcome of two inter related factors: a)
his genetic inheritance from the parents, that
is what he is born with and b) the influence of
his environment, i.e. upbringing at home and
at school; friends and interrelation with the
society in which he lives and grows up. The
two factors are also commonly phrased as
"nature" and "nurture". The latter, i.e. the
environment is more significant in shaping
the behavior and personality of a child,
largely in his immediate circle, initially the
parents, siblings and grandparents and later
the school, teachers, class mates, friends and
so on. In India, the joint family system, still
prevalent has substantial influence on a
child's ultimate personality and behavioral
make up.
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Influence of parental attitudes On
behavior of children:
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Overprotection: A single child, first
child, only male child (in India), a
child born late after marriage or a
child born after several deaths or
miscarriages, is the one most likely to
be overprotected. Grandparents are
particularly
overprotective.
This
attitude abnormally prevents a child
from
developing
a
sense
of
independence, often resulting in
frustration and a revolting nature. In
some situations the child may become
over dependant seeking help at every
occasion or may even become selfish.
Do minance: Parents may, out of
aspirations of pride and achievement,
impose their own values on their off
spring. Bright and successful parents
may have high expectations from their
children and in this process create
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situations of stress and adverse
reactions. Children's talents need to be
discovered and encouraged and their
desires given a sense of direction.
Rejection and under protection: A
child that was unwanted, was born too
early, during parents' financial crisis or
'bad days', a female child in certain
traditional Indian societies, a child
born under a 'bad omen' is the one
most likely to be under protected or
rejected. Parental discord, disharmony,
separation or divorce may result in
rejection of children. From want of
love and warmth such children have a
number of behavior problems. They
can be withdrawn, fearful, quiet, sad
or even resort to stealing, lying,
truancy and in later life exhibit
antisocial behavior.
Unrealistic expectations: Some
parents have certain expectations from
their children. They wish them to
achieve what they themselves aspired
in life but could not achieve. In this
process they set impossible goals for
them which they find difficult to
achieve thus resulting in stress,
frustration and even revolt.
Discipline,
punishment
and
rewards: Too much punishment for a
less severe default or too little for a
serious one cause confusion in the
child's mind and he does not
understand what is expected of him.
Discipline
should
therefore
be
consistent. Rewards for good behavior
go a long way in encouraging good
behavior.
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Unhealthy criticism, unfavorable
comparison: Comparing a child with
sibling or another child who appears to
parents to be doing well can
undermine the child's self esteem and
result
in
resentment.
Smallest
achievement of a child should be
appropriately praised and rewarded to
encourage
performance.
Hidden
talents in gifted children should be
brought out and encouraged
2.
3.
4.
5.
6.
7.
conduct
disorders,
8.
Attention deficit disorder
10.
Psychotic disorders: Autism, pervasive
developmental disorders, personality
disorders.
9.
Sexual
behavior
deviants:
transvestism,
transexualism,
homosexuality
Some
common
and
important
behavior disorders met with in Pediatric day
to day practice are briefly described here:
Disorders of behavior can vary from
mild deviation of normal behavior to serious
psychiatric disturbances. Many behavior
disorders are in the field of child psychiatry
such as anxiety and psychotic disorders. A
commonly used textbook classification is as
under.
1.
tantrums,
delinquency.
Common behavior problems:
There are a large number of behavior
problems that, children manifest at different
ages, in certain situations, and with different
personality patterns. Many are in the area of
psychiatric practice, such as anxiety and
psychotic disorders. Some are brought to
the notice of the pediatrician because
parents feel it is a medical problem, such as
bedwetting at night, tics like eye blinking or
teeth grinding. Certain learning disorders
like 'dyslexia' and 'dysgraphia' etc., where a
child has problems with writing, reading, or
maths, are discovered usually by teachers at
school and mistaken by parents as poor
scholastic performance. The commoner
problems in younger children are briefly
discussed below without any attempt at
classification:
Psychosomatic
disorders:
The
common
ones
include
hypochondriasis, conversion (or so
called hysteria), eczema, asthma,
ulcerative colitis, peptic ulcer and so
on. The term 'psychosomatic' suggests
interrelation between body and mind
and explains the nature of these
disorders
Vegetative or eating disorders include
those related to eating, sleep
defecation etc. namely rumination,
enuresis, sleep disorders, anorexia
nervosa, bulimia, pica, encopresis.
Habit disorders: Head banging, thumb
sucking, hair pulling, breath holding,
stuttering, body rocking, nail biting,
teeth grinding, etc.
1.
Anxiety disorders such as obsessions.
Compulsions, phobias and fears.
Affective disorders: Mania, depression,
etc.
Suicidal behavior
Disruptive behavior: Breath holding,
lying,
stealing,
truancy,
temper
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Negativism: A child between two and
four years resists domination and this
is
a
normal
process
in
the
development of personality. Parents
should use tact and humor to handle
the situation rather than react with
anxiety and make matters worse. The
usual manifestations are refusal to eat
in spite of bribing, coaxing or bullying.
In some, there is refusal to sleep.
Another negative reaction is temper
tantrums in which a child resorts to
2.
3.
4.
kicking, biting, and stamping the
ground. As said, the management in
tact, humor and avoiding force or
bullying and threatening. If calmly
handled recovery is spontaneous.
There is no danger of the child
harming himself.
Tics: These are very common,
particularly in tense children who get
easily worried and who have
ambitious, goals. They can take the
form of: nail biting, temper tantrums,
sleep disturbances, nightmares etc.
Common tics are eye blinking, head
shaking, shoulder shrugging, sighing,
and arm jerking and so on. These tics
are repetitive particularly in tense
situations. Parents should not draw the
child's attention to it, rebuke, or forbid
him to do it, or talk about it to others
in his presence. Removing any kind of
tension the child may have and with
tactful and kind, handling tics
disappears spontaneously.
5.
Thumb sucking: This is normal in
infants' particularly bottle-fed babies.
As the child grows, it becomes less
frequent but occurs before baby falls
off to sleep. Some will clutch or suck at
mother's
sari
before
sleeping.
Unusually however, the habit may
persist to older age, 5 or 6 years. No
attempt should be made to prevent the
habit as this may create other
emotional
disturbances
and
unnecessary anxiety to the child.
There is a common belief among lay
parents that the thumb sucking habit is
harmful, may be unhygienic or cause
malocclusion of teeth. None of these
fears has any rational basis.
6.
7.
Breath holding spells : These are
'attacks' that usually occur between 6
months and 3 years of life. The infant,
in a bout of crying, holds his breath
103
and loosse consciousness for a while.
Some may have a seizure, but soon
recover fully. Such attacks may be
considered attention-seeking and an
attempt to control their environment.
Parents not aware of the disorder get
frightened and in this attempt
'reinforce' the disorder. Explain the
benign nature of the condition to the
mother and advise her to ignore the
eipsode by leaving the child or leave
the room till the breath returns. The
attacks will gradually disappear, as the
'reinforcing' stops.
Nail biting: Indicates some degree of
anxiety or insecurity. The habit usually
starts when a child first goes to school.
Attempt at stopping it often fails,
worsening the already existing tension.
Ignoring the habit is the best
approach;
the
habit
disappears
spontaneously except of course if a
cause of tension persists, like a strict
teacher at school or excessive parental
demands for school performance.
Pica: Eating dirt, clay, wall paint or
whatever the toddler can lay hands on
is called pica. The cause may be: a
very disturbed child, malnutrition,
anemia,
and
such
deficiencies,
disharmony between parents, povertystricken or broken homes. The main
danger in eating wall or wood paint is
lead poisoning from the lead paint on
the wall or wood. Management
includes providing nutrition in such
deficiencies, and correcting causative
adverse home environment through
social help and counseling as the case
may be.
Masturbation: This is too strong a
word to use for this benign habit, quite
common in both male and female
children. A child does it merely
because it gives him pleasure. This is
8.
9.
the child has never learnt to be dry. In
secondary enuresis, the habit recovers
briefly achieving control but recurs
later. Management is only helping the
child to cope, remove any sense of
guilt or inferiority feeling.
done by rubbing the penis by male or
the genitals by female children.
Sometimes by lying on the abdomen
and rubbing the genitals rhythmically
against the bed. During this process,
the child is excited and flushed. It may
result in the feeling of shame and guilt
in parents. Transmitting this feeling to
the child can may make secretive and
guilt ridden. This should be strictly
avoided. The habit is very common
and almost physiologic at adolescence.
No serious harm results from the habit
and unnecessary concern about it is
unwarranted.
The following measures help to cope
up with these problems:
(i)
(ii)
Make the child void before going
to bed.
Voiding before parents go to
sleep and as often as they wake
up at night.
(iii) Avoid shaming, rebuking or
punishment; this can worsen the
habit.
Nightmares: The child suddenly
wakes up at night, and may narrate his
fearful dream. It lasts a few minutes
and after being comforted he or she go
back to sleep. No specific treatment is
required
except
reassuring
and
comforting the frightened child.
(iv) Restrict fluid intake in the evening
hours particularly after 7 PM.
(v)
Night terrors: In this, the child
remains asleep during which he has
the feeling of some horrifying event
but
cannot
recall
any
dream
afterwards. There may be profuse
sweating. The event lasts up to 20
minutes. Sleepwalking is related to
night terrors. No treatment is called for
except correcting any known stress and
comforting the child.
Rewarding the child for a dry
night, increasing the number of
dry nights which will qualify for a
reward. For instance, if he wets
almost every night, give a reward
every morning he is dry. Later tell
him he will be rewarded for every
two nights, gradually increasing
the number of dry nights that will
earn him a reward.
(vi) Medicines are given in specific
situations. The limitation with
medicines is that relief occurs
during treatment with medicines
but the habit recurs once the
medicines
are
stopped.
Treatment is available as oral
tablets and sprays for inhalation.
They are prescribed in an older
child to briefly give him a sense
of confidence that the habit can
stop and that his own desire will
be necessary. Such treatment is
accompanied
by
psychiatric
counseling.
Most
children
10. Enuresis or bed-wetting: It is
necessary to make sure that the bedwetting that the child has is not due to
any disease condition. If this is ruled
out, the cause is likely to be
psychological. A proper enquiry has to
be
made
about
the
home
environment,
parental
attitudes,
tensions at home and school,
punishment and discipline. The habit
eventually disappears in most cases.
Primary enuresis is one where the
habit has been present from birth and
104
ultimately recover taking variable
time to do so. Until then
understanding,
support
and
encouragement are necessary.
like a spinning top. They are unhappy
and make their parents sad. They can
be mistakenly diagnosed as mentally
or speech retarded, schizophrenia etc.
Behavior
therapy
under
expert
guidance is presently the only
management. Many children, but not
all, seem to recover remarkably with
therapy. The cause is not known. It is
considered
as
a
developmental
disorder of brain function.
11. Attention deficit hyperactivity
disorder: (ADHD). These children
suffer from a triad of hyperactivity,
inattention and impulsivity. They
never seem to sit still, are fidgety, have
short attention span in as much as
they do not stick to one activity,
fritting from one activity to another
and are therefore easily distractible;
they are restless and sleep poorly; they
are uncontrollable, refuse to follow
instructions
and
therefore
have
problems at school. They cannot get
on well with their playmates as they do
not follow rules of the game,
provoking them, keep intruding into
their activity and do not learn from
their mistakes. Their hyperactivity
often wears their mothers out. The
management is essentially behavioral
and sometimes with drugs like methyl
phenidate etc.
13. Learning disability is a common
form of developmental disorder in
which children have difficulty learning
and
therefore
have
scholastic
problems. The commonest form is a
specific disorder viz. dyslexia. Such
children
have
difficulty
in
understanding language, either written
or spoken and as a result of this, have
poor ability to listen, think or speak.
They have difficulty in reading written
language, writing and spelling. They
have difficulty in understanding and
solving mathematical calculations.
They may not be mentally retarded
but have specific disability in the
psychological development process.
Management
is
through
a
multidisciplinary team of experts
including psychologist, psychiatrist,
educational specialists, health visitors
and social workers in addition to the
pediatrician.
12. Autism: They are brought with
complaints of delayed speech, use of
unintelligible
speech
(jargon),
inattention and as a result suspected to
be hearing impaired. They have poor
eye contact and socially they lack
smile and interaction with other
children. They are unable to make
close and affectionate relationships,
are not 'cuddly' and seldom hug their
mother Instead they like playing and
'talking to' inanimate objects like a
chair or a cushion. They have
repetitive actions and when spoken to,
repeat what is asked rather than
answer questions (echolalia). They like
'sameness' and are greatly disturbed if
there is any change in their daily
routine. They enjoy spinning objects
14. Speech and language disorders:
Behavior disorders also include a set
of disorders grouped under 'speech
and language disorders'. A number of
factors, singly or collectively may be
responsible. Before classifying such
disorders, mental retardation should
be ruled out as a cause as also
deafness. The remaining may be
classified as under:
105
v
v
v
v
v
dependence,
immaturity
of
development and isolation. The
criteria for diagnosis of this eating
disorder are: fear of being obese;
feeling of being fat in a part or whole
body in spite of being underweight or
wasted; not stopping to loose weight
beyond a minimal; failure to have
three consecutive menstrual cycles and
a BMI of less than 17.5 at the age of
17 years or more. Clinical signs are the
consequence of starvation and include
electrolyte disturbances, breathing
difficulty,
palpitation,
weakness,
dizziness, chest pain, hypotension, and
bradycardia. Dehydration may occur.
Disturbance of the hypothalamicpituitary-ovarian axis results in arrest
of psychosocial maturation and
amenorrhea. Thus disturbances occur
in all organ systems. Psychologically,
they are isolated, depressed, anxious
and obsessional. There is introversion,
low self esteem and poor peer
relationship. Mortality is as high as 15
percent due to cardiac and electrolyte
disturbances.
Congenital
nervous
system
disorders:
These
include:
congenital cerebral diplegia,
suprabulbar
paralysis,
hemiplegia, bilateral athetosis,
ataxia of cerebral dysgenesis,
ataxia of articulation from
cerebral dysgenesis, defects of
cranial nerve nuclei.
Developmental
Aphasiadevelopmental
executive
or
expressive aphasia, receptive
aphasia (congenital auditory
imperception).
Acquired from CNS disease or
trauma.
Mechanical defects: Cleft palate,
wide nasopharynx etc.
Functional with no central brain
defect or structural defect of
speech
organs
(such
as
stammering or stuttering), and
dyslalia.
Delayed speech: Any delay occurring
after the age of 3 years may be due to
mental retardation, autism and other
emotional disturbances. The management
consists in finding and treating the cause
and appropriate behavior and speech
therapy and parent counseling.
Management includes appropriate
medical attention to clinical problems,
which may need hospitalization in severe
cases. Psychiatric treatment may involve day
care treatment in medically stable patients,
or institutionalization, as the case may be.
Nutrition counseling is an important aspect
of therapy.
Stammering or stuttering: Most
commonly begins at preschool age, more in
boys and is essentially the result of
maladjustment with the environmental
situation. The child has a hurried,
interrupted or hesitating speech with lack of
fluency, prolongation of the initiating word,
worsened by emotional stress. Management
includes behavior and speech therapy with
removal of stress by family counseling,
psychotherapy.
16. Juvenile delinquency: As per the
Children's act Juvenile delinquency is
defined as commitment of an offence
by a 'Juvenile', i.e, a boy below 16
and a girl below 18 years of age. Apart
from crime it includes all deviations of
normal behavior such as disobedience,
truancy and other antisocial activities
like drug abuse and so on. Such
children tend to join gangs of immoral
15. Anorexia nervosa: The psychiatric
characteristics of the young adolescent
sufferers of this disorder are excessive
106
people and come into clash with law.
In India, figures are not available but it
seems to be on the increase as a result
of
broken
and
poor
families,
urbanization, emergence of slums, and
crime and violence seen in the cinema
and TV.
neglect
contribute
to
delinquency
substantially. Deprivation and lack of
opportunity to recreative activities like
sports and games etc, lead to other
undesirable outlets for juvenile energy.
The problem can largely be prevented
by help and support to families at risk,
providing
school
education
with
opportunities to ventilate their energies at
games, social and other creative activities,
parent counseling and good health and
social welfare support to families.
Causes include genetic factors where
there is a proclivity for deviant behavior.
Certain social factors such as broken homes,
death or separation of parents, poverty,
alcoholism, incompetent parents or parental
107
4
Basic Genetics
and Genetic Inheritance
We inherit physical and mental
characteristics from our parents, like color of
skin, appearance, manners and habits etc
through the genetic material passed on to us
on chromosomes. A normal human being
has 46 pairs of chromosomes, half the
number (haploid) i.e. 23 pairs are received
from each parent to make a total of 46.
Thus each parent with a total of 46 pairs
passes on only 23 pairs to its offspring and
this halving (haploidy) occurs in the egg cell
(ovum in female and sperm in the male)
each having 23 chromosomes. When the
sperm (with 23 chromosomes) meets the
ovum (with 23 chromosomes) at fertilization
to form a zygote, it gets its final 46 pairs and
grows into a normal fetus.
Fig. 32 demonstrates the parts of a
chromosome. Each chromosome is made up
of two chromatids connected to each other
at the centromere, dividing the chromosome
into upper and lower arms. Each gene
occupies a particular spot (locus) on the
chromosome and this is called the gene
locus. Gene loci at identical situations on a
homologous pair of chromosomes are called
alleles. The short arm of the chromosome is
referred to as 'p' and long arm as 'q'.
A Chromatid
A gene locus
Upper Arm
Centromere
Lower Arm
Alleles
(Gene loci at
identical
situations)
Fig. 32 : A chromosome and a
chromosome pair showing parts
(See 'deletions' below)
Of
the
23
pairs
of
normal
chromosomes, one pair is the sex
chromosome and the other 22 pairs are
autosomes. A male has XY and a female has
XX. Thus the sex chromosome pair
determines the sex of an individual. The
chromosomes are numbered from 1 to 22
autosomes and one sex pair, according to
their size, site of the centromere etc.
according to the Paris classification (Fig.33).
This enables to identify the chromosomes
on a special laboratory examination called
Karyotyping. The photomicrographic record
representing the karyotype is called a
Karyogram. (See Fig. below)
Fig. 33 : Showing 23 chromosomes (22 autosomal and one sex pair)
translocation type.
CHROMOSOME ABNORMALITIES
CAN BE:
l
Numerical:
l
l
l
MonosomyAbsence
of
one
chromosome of a homologous pair.
Example Turner's syndrome where
there is only one sex chromosometotal 45 instead of 46 in a normal
person. Monosomy of autosomes is
incompatible with life.
l
l
Trisomy- The presence of an extra
chromosome of one type so that the
total number is 47 instead of normal
46. Examples: Down's syndrome
where there is an additional number
21 chromosome, Patau's syndrome:
trisomy of chromosome 13, Edward's
syndrome: trisomy of chromosome 18.
l
l
l
Inversion. Chromosome break at two
points, broken pieces get inverted and
joined to same chromosome
Insertion. Chromosome break at two
points with broken end getting
incorporated into another part of a
chromosome.
Duplication. Extra genetic material
from the same chromosome
Fragile: Constriction at a site with gap
in the iso chromatid. Example: Fragile
X syndrome clinically presenting
mainly with mental retardation
GENE DEFECTS
Mosaicism: Two or more cell lines
from the same zygote in an individual.
Example: Down's syndrome -mosaic
type.
These can be autosomal, affecting one
of the 22 autosomal pairs or the sex
chromosomal pair (X- linked). Each can be
dominant or Recessive:
Structural:
l
Ring chromosome. Deletion at each
end of a chromosome, the ends join to
form a ring.
Autosomal
Deletion: loss of a part of the
chromosome. Short arm p or long arm
q. Example:
Deletion of short limb
[p] of chromosome number 5- 'cri du
chat'
syndrome.
Other
deletion
syndromes are due to deletions of 5p-,
9p-, 13q-, 18p-, 18q-, 21q-.
X-linked
Dominant
Recessive
Dominant
Recessive
Terms used:
Alleles: Genes at the same locus on a
pair of homologous pairs.
Translocation- one segment of a
chromosome is transferred to another
chromosome. This is a result of
breakage of both chromosomes with
repair in an abnormal arrangement.
Reciprocal
translocation:
the
translocation/transfer is reciprocal
between homologous chromosomes.
Examples
:
Down'
syndrome,
A person having a pair of identical
alleles is Homozygous. When the alleles are
different (one normal one abnormal) it is
Heterozygous.
Two abnormal alleles….. Compound
Mutation: A new genetic change not
previously known in kindred.
Dominant: An allele that is expressed
109
(homo or hetero zygous)
Achondroplasia: Also named 'circus
dwarfs'. Short stature, altered CR : RH ratio
i.e short limbs with apparent normal trunk,
large head, frontal bossing, depressed nasal
bridge, short and broad hands, lumbar
lordosis, hypotonia with some delay in
motor development. Hydrocephalus may
develop as a complication. Diagnosis is
made from appearance and x-ray findings
that show: short and broad fingers and toes,
small pelvis with winging of iliac bones,
narrow spinal canal, anterior cupping of
ribs, anterior wedging of lumbar vertebrae.
Recessive: An allele that is expressed
only when homozygous.
Actually it is the phenotypic (clinical
signs and appearance in an anomaly) rather
than the gene that is dominant or recessive,
but the terms can be used for a gene.
PATTERNS OF INHERITANCE
1) Autosomal dominant
d
d
Affected
father
d
dd
Normal child
dd
Normal child
Normal
mother
D
Marfan's syndrome: Chest deformities
in the form of pectus carinatus or
excavatum, arm span longer than height
altered CR: RH ratio (longer limbs than
trunk), spinal deformities including scoliosis
and spondylolisthesis. Eyes: ectopia lentis,
iridodenesis,
blue
sclerae,
retinal
detachment. Mitral valve prolapse dilated
aortic root.
dD
Affected child
dD
Affected child
Thus 50% offspring will be affected,
50% normal
l
l
l
l
In such an inheritance the trait appears
in
every
generation
(vertical
transmission)
Tubererous sclerosis: Diagnosis from
two major or one major and two minor
criteria. Major criteria : lesions of the skin,
eye, brain; tumors in heart, kidney or lungs.
Minor : bone cysts, dental pits, gingival
fibromas, rectal polyps, white matter
anomalies, hamartomas, renal cysts, retinal
patches and skin lesions.
Any child of affected parent has 50%
chance of inheriting the trait
Unaffected persons do not transmit the
trait to their offspring
Transmission unaffected by sex i.e.
males and females equally likely to be
affected
Noonan's syndrome: an autosomal
dominant disorder has some anomalies
common with Turner's such as short stature,
shield chest, low neck hairline, web neck
and congenital heart disease. Unlike
Turner's syndrome, Noonan's syndrome
occurs in both sexes.
Examples of autosomal dominant
disorders: Achondroplasia (also look under
short stature), Marfan's syndrome, Myotonic
dystrophy, Noonan's syndrome, Tuberous
sclerosis,
Neurofibromatosis,
Chorea
(Huntington), Porphyria (acute intermittent)
etc.
110
retardation, cataract and aminoacidurias.
Galactosuria confirms the diagnosis. The
treatment is by total elimination of galactose
(milk and milk products) from the diet.
2) Autosomal recessive
Carrier father (Nn)
Carrier mother (Nn)
Ovum
(N)
OVA
(n)
Sperms (N)
NN
Normal child
Nn
Carrier child
Sperm (n)
Cystic fibrosis: See under
section 4, chapter 19, page 242.
nN
Carrier child
Sickle cell disease: See under Pallor,
section 4, chapter 16, page 223 (hemolytic
anemias).
nn
Affected child
Thalassemia: See under Pallor, section
4, chapter 16 (hemolytic anemias p. 221).
Both parents phenotypically normal
but carry same abnormal (mutant) gene.
50% offspring will be heterozygous carriers
of the abnormal trait (Nn) but like parents
will be phenotypically normal. 25 % will be
affected (nn) and 25% normal (NN)
l
l
l
l
cough,
Phenyl ketonuria: Absent or deficient
phenylalanine hydroxylase resulting in
elevated phenylalanine in body fluids.
Clinically
these
children
have
fair
compexion, blue eyes, mental retardation
and seizures. Special, low phenylalanine
diet started early can prevent symptoms,
thus early diagnosis, soon after birth and
elimination of dietary phenylalanine can
prevent a disaster, particularly mental
retardation. This is possible if routine
metabolic screening of newborns is done.
Trait appears only in sibs (horizontal
transmission), not in parents, offspring
or other relatives.
About 25% of sibs are affected.
Parents may be consanguineous
Both sexes equally affected.
Examples of autosomal recessive
disorders:
Galactosemia,
Diastrophic
dwarfism, Laurence Moon Biedl syndrome,
Cystic fibrosis, Phenyleketonuria, Sickle cell
disease, Thallasemia, Albinism, Congenital
adrenal hyperplasia, Hurler's disease,
Friedrich's ataxia.
Hurler's disease: This is a severe type
of mucopolysaccharidosis, an inborn error
of metabolism, where abnormal metabolites
in the form of heparin and dermatan
accumulate in the body tissues as result of
deficiency of an enzyme (a-L-iduronidase).
Clinically they begin to present characteristic
features towards later infancy in the form of
course facial features (frontal bossing,
depressed nose bridge, broad nose, large
head) corneal clouding, developmental and
mental regression. Bone abnormality
includes kyphosis. Hernias may develop
(inguinal, umbilical). Diagnosis is made
from x-rays of the bones and presence of
heparin and dermatan in urine.
Galactosemias: Defect of various
enzymes responsible for conversion of
galactose to glucose. In the classic type,
there is deficiency of galactose-1-phosphate
uridyl transferase. This deficiency results in
the accumulation of galactose-1-phosphate
which damages various organs including
liver,
kidneys
and
brainclinically
manifesting as enlargement of the liver,
cirrhosis, ascites, jaundice, hypoglycemia,
vomiting, dullness, convulsions, mental
the
111
Albinism: This is due to deficiency of
enzyme tyrosinase responsible for
synthesis of melanin. Mainly affected are the
skin, hair and the eyes. Clinically patients
are recognized from gradually increasing
depigmentation of the skin and of iris and
retina.
Ocular
findings
include
photophobias, nystagmus, squinting and
diminished vision. Skin malignancies may
occur in severe cases. There is no specific
treatment other than counseling and
ophthalmic support. Dark lenses provide
relief from the discomfort of photophobia.
characters appear, Skeletal, and general
growth are accelerated (precocious).
Treatment aims at suppressing the
precursor hormones by administering
hydrocortisone plus, in salt losers, 9 afluorohydrocortisone. Replacement of salt is
by giving upto 3 grams of common salt
(NaCl) daily. Monitoring of clinical and
biochemical parameters is carried out on
follow up.
Friedrich's
ataxia:
See
under
'Involuntary movements', section 4, chapter
27, page 279.
Congenital adrenal hyperplasia (CAH):
It results from a deficiency of enzymes in the
adrenal cortex resulting in deficient
synthesis from cortisol from cholesterol.
(These enzymes include 21-hydroxylase,
11b hydroxylase, 17 hydroxylase, 3b
hydroxysteroid/4,
5
isomerase).
The
commonest is the 21-hydoxylase deficiencyclassical CAH. A salt losing and a virilising
type are known.
3) X-linked trait
Carrier mother XX"
Normal father XY
Ova X
Salt
losing
type
presents
as
hypovolemic shock, dehydration and
biochemical laboratory features include
hyponatremia, hyperkalemia, hypoglycemia,
acidosis and uremia. Aldostrone levels in the
urine and serum are low. Diagnostic features
are raised serum 17-OHP, low serum
cholesterol and raised serum DHEAS
(dehydroepiandrosterone) and testosterone.
Non classic CAH may be asymptomatic.
Biochemistry alone confirms the diagnosis.
Ova X"
Sperm X
Sperm Y
XX"
Carrier
daughter
X"Y
Affected
son
XX
Normal
daughter
XY
Normal
son
Both parents are phenotypically
normal. Mother is a carrier of a recessive
gene X " (on her X chromosome). All
daughters will be phenotypically normal but
50% will be carriers. Half the sons will be
affected from the X chromosome they
receive from the mother carrying the
abnormal (mutant) gene.
The virilising type is diagnosed in girls
from ambiguous external genitals, enlarged
clitoris with changes suggesting male
appearance except that testes are absent.
Untreated,
they
develop
increasing
virilisation, advanced skeletal age early
appearance of secondary sex characters. In
boys early diagnosis may not be possible till
after the third year when secondary sexual
X or sex linked inheritance:
Sex linked genes can be x-linked or
linked, but practically only x-linked
significant clinically. Females have two
chromosomes and males only one
chromosome. Therefore there are
genotypes possible in female and only 2
112
yis
xx3
in
males.
a result of these the signs are: Facies:
frontal bossing, flat nasal bridge, everted
and thick lips, periorbital wrinkling of skin
and low set, prominent ears. The hair over
the scalp is fine, sparse, lightly pigmented
and that of the eyebrows and eyelashes are
scanty or absent. Teeth may be absent or
underdeveloped, are wide spaced and peg
like (conical). Gastroesophagial reflux
occurs in a fifth of all cases.
X-linked recessive inheritance: The
trait is expressed by all males who carry the
abnormal gene but by females only if they
are homozygous. Thus x-linked recessive
diseases are almost restricted to males.
Criteria of inheritance:
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Incidence much higher in males
Trait passed from affected male
through all his daughters to half their
sons
X-linked dominant inheritance:
The characteristic feature is that an
affected male transmits the gene to all his
daughters and not to any sons. The affected
females transmit the gene to half of their
offspring (same as in autosomal trait).
Trait never transmitted directly from
father to son
Trait transmitted through a series of
carrier females
Carriers have a variable expression of
the trait.
Criteria of inheritance:
l
Examples of sex linked recessive
diorders:
G6PD deficiency, Hunter's
disease, Hemophilia, Duchenne muscular
dystrophy,
Ectodermal
dysplasia
(anhidrotic), Lesch Nyhan syndrome.
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Hunter's disease: Belongs to the group
of mucopolysaccharidosis (MPS) of which
this is the only X-linked recessive, all other
MPS's are recessive disorders. Clinically
affected patients have, short stature, mental
retardation, course facial features, deafness,
and umbilical hernia.
l
Hemophilia: See under 'Bleeding and
Bruising' section 4, chapter 17, page 230.
Affected males do not have normal
daughters nor affected sons
Affected heterozygous females transmit
the abnormality to half their children
(both male and female). Affected
homozygous females transmit it to all
offspring. Thus x-linked dominant
transmission cannot be differentiated
from autosomal dominant from the
offspring of affected females but only
from offspring of affected males.
Affected females are more common
than affected males.
Examples of sex linked dominant
disorders:
Hypophosphatemic rickets,
incontinentia pigmenti etc.
Duchenne muscular dystrophy: See
under 'Inability to move a limb' 'the spastic
child' and 'hypotonia, section 4, chapters
28, 29 and 30 respectively.
Pedigree chart:
It is a chart showing ancestry of an
individual, used in human genetics to
analyze
inheritance.
Symbols
used
conventionally in pedigree charts are shown
in the Fig. 34 below:
Ectodermal dysplasia (anhidrotic): The
basic features are absence of sweat glands,
abnormal dentition and diminished hair. As
113
SYMBOLS USED IN MAKING A PEDIGREE CHARTS
Male
Heterozygotes for
autosomal recessive
Female
Carrier of sex-linked
recessive
Mating
Parents
and
Children
1 boy 1 girl
(in order of birth)
Death
Abortion or stillbirth
sex unspecified
Dizygotic twins
Proband
Monozygotic twins
Method of identifying
persons in a pedigree
Sex unspecified
Here the proband is
Child 2 in Generation II
Number of children
of sex indicated
Affected
individuals
Consanguineous
marriage
Fig. 34 : Symbols used in preparing pedigree charts
Karyotype notations
Some examples of notations used in reporting karyotype are shown in the table below
Karyotype notation
46 XY
46 XX
47 XY +13
47 XY +21
46 XY -21+ 1(21q21q)
46XY, del(5p)
45X
46XY,r(19)
Interpretation
Normal male karyotype
XY means a male and 46 represents the number of chromosomes in a nor mal
individual
Normal female kar yotype
XX means a female and 46 is the normal number Chromosomes.
Trisomy 13, Female
XY represents a female and 47 is the abnormal number of chromosomes (one in excess
of the normal 46). This additional chromosome is the number 13 chromosome.
Trisomy male with Down's syndrome. Here the extra chromosome is the number 21.
Male Down's syndrome due to centric fusion type translocation between 2
chromosomes 21, replacing 1 chromosome 21.
Male (XY) with deletion of par t of short arm of Chromosome 5
Female with 45 chromosomes (one shor t of normal 46), Monosomy X i.e. missing other
XThis happens in Turner's syndrome.
Male with ring chromosome 19.
114
Brief description of some
commonly known chromosomal
disorders:
l
Chromosome number anomalies:
Trisomies:
Down's syndrome (trisomy 21):
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l
May present with small skull, cerebral
malformations, hypertelorism, low set ears,
cleft palate, stubby nose, polydactyly and
other anomalies.
Edward's syndrome (trisomy 18):
Clinically: Features vary but some are
constant such as retardation, facial
features.
o
o
o
o
o
o
o
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Patau's syndrome (trisomy 13):
Cause: Commonest chromosomal
disorder- (i) trisomy 21, or (ii) less
commonly translocation of extra
chromosome to number 14 or (iii)
mosaicism
o
Mental and
retardation;
physical
Low birth weight, closed fist, index
finger overlapping third (ring) finger and
fifth overlapping the fourth, rocker bottom
feet, microcephaly, mental retardation,
micrognathia, narrow hips, short sternum, ,
cardiac and renal malformations.
growth
Facial features: mongoloid facies
with upward slant of eyes,
oblique palpebral fissures, small
and depressed nasal bridge,
epicanthic
folds,
cataract,
Brushfield spots in the iris;
protruding fissured tongue;
Chromosome structure anomalies
Translocations:
Phenotype is normal in in both
reciprocal as well as in the Robertsonian
type but there is an increased risk of
abortion in both. In carriers of reciprocal
translocation the offspring has risk of
abnormalities at birth.
Skull and neck: flat occiput, small
skull, brachycephaly, short neck.
Hands and feet: short hands and
feet, fingers and toes, incurved
little finger (clinodactyly), wide
space between first and second
toe, transverse palmar crease
(simian crease).
Deletions:
Deletion of 4p: (Wolf-Hirschhorn
syndrome): Clinically, microcephaly, mental
retardation, frontal bossing and prominent
glabella. Ocular abnormalities like ptosis,
strabismus, epicanthic folds, small eye
socket, nystagmus, ocular hypertelorism.
Nose: prominent nasal bridge, beaked nose;
hypospadias; cardiac anomalies.
Congenital heat disease (septal
defects, AV canal)
Rarely leukemia
chromosome)
Prevention of birth of these children by
parental
consent
is
important.
Antenatal dignosis can be made with
the help of cytogenetic studies
(amniocentesis) and certain screening
tests on mothers.
(Philadelphia
Hypotonia
Deletion of 5p: (Cri du chat
syndrome): Characteristic plaintive cry,
hypotonia, short stature, microcephaly with
mental retardation, protruding metopic
suture, hypertelorism, epicanthic folds, wide
and flat nasal bridge, high arched palate.
Depressed immunity (poor B cell
function)
with
consequent
repeated infection.
Management is essentially palliative
and rehabilitative.
115
Klinefelter's syndrome: Majority have a
male karyotype (47 XXY). Others have a
number of X chromosomes in addition to
one Y, such as XXXY, XXXXY and so on.
Larger the number of chromosomes more
severe the clinical picture especially in terms
of mental retardation. Clinically, recognition
is easier in post pubertal children, than in
the prepubertal that may appear normal
until puberty. The classic features are:
eunachoid
proportions,
tall
stature,
gynecomastia, delay in development of
secondary sex characters, small testes and
behavioral abnormalities.
There are many more deletions not
described here ( 9p-, 13q-,18p-, 18q-,21qand so on) Readers are referred to standard
texts in this regard.
Duplications (presence of extra genetic
material) are much less frequent.
Sex chromosome anomalies:
Turner's syndrome: Absence of the
other sex chromosome, affects females.. In
Turners syndrome (45 X) the newborn
presents with prominent ears, webbed neck,
edema hands and feet and short stature.
Older children have bicuspid aortic valve,
coarctation of aorta, aortic stenosis, mitral
valve prolapse, absenceof secondary sex
characters, ambiguous external genitals or
may appear normal (phenotype normal).
Mosaic Turners have 45X/46XY karyotype
which
explains
ambiguous
external
genitalia.
Fragile X syndrome: There are a large
number of fragile sites identified. The one
that is significant is the 'Fragile X syndrome'
Its clinical characteristics in males are
mental retardation, autistic behavior, large
testes seen at puberty, long face, and
prominent jaw.
In
females,
mental
retardation and learning disabilities.
116
5
Domestic Accidents,
Poisoning and Burns
The moment a child is able to cruise
around the house, by crawling or walking,
exposes him to hazards like injuries and
accidental poisoning. The largest number of
mishaps therefore, occur during the second
year but may occur any time from 1 to 3
years. During these years the infant and
toddler is very inquisitive and tends to
explore his surroundings by holding, feeling
and mouthing, unaware of the lurking
danger. Other hazards result from living
conditions such as stings of insects, bites of
snakes and other poisonous animals and
industrial hazards in the proximity of home.
Accidental injuries and poisoning:
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Fall from a height - stairs, even table
or chairs
Injury from household appliances like
cutlery, sharp instruments, tin or metal
toys with sharp edges or corners.
Burns and scalds from hot fluids like
boiling
water,
matches
and
inflammable articles, usually in the
kitchen
Electric shock from loose wires or
unsafe electrical appliances within
child's reach
A child may enter an open box or
cupboard or any closed space and
shut himself in with resultant
suffocation
Drowning in a tub or, bucket full of
water or a water tank in the garden.
Accidental ingestion of poisonous
chemicals, pesticides, kerosene, petrol,
detergents, antiseptics, naphthalene,
medicines etc within the child's reach.
Skin contact or inhalation may result
from some poisonous substances.
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Bites and stings: snake, scorpion,
insect bites, dog bite (rabies)
Pica resulting in lead poisoning from
eating wall paint.
Predisposing environmental
factors:
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Crowding and poverty with limited
space for storage and living in the
house.
Unattended children, parents away at
work. Child often tended by another
older child.
Families living in hazardous industrial
areas with emission of hazardous
effluents.
Undereducated parents, unaware of
dangers.
Prevention of injuries from
accidents:
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As far as possible do not leave child
unattended at home.
To prevent fall from stairs, a small
wicket gate with a safety latch is fixed
to the upper and lower end of the
stairs which only adults can use,
preventing toddlers to climb or to
descend from the upper floor.
Keep
cutlery,
medicines,
sharp
instruments,
household
cleaners,
detergents etc locked and beyond the
reach of children.
Place stoves, heaters, ovens etc
beyond reach of the child. Keep the
child away from the kitchen, blocking
the entry particularly during cooking.
Special appliances are available to
plug electric sockets within the child's
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Petroleum products, kerosene, liquid
fuel, house cleaners, detergents, rat
poisons or any other toxic substances
should be kept away and under lock
when not in use.
Keeping the house clean and
adequately protected cannot be
overemphasized particularly in regions
where insects, rodents, scorpions,
snakes etc abound
Physical examination: After exclusion
of any head injury, epilepsy etc which may
cause altered consciousness as seen in some
poisoning cases, symptoms and signs of
toxic agents should be looked for.
Use of special seats for cars for infants
Eyes
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Mouth
l
Abdominal pain
l
This is made from history. Account of
events by a witness who may have been
present. The precise time of accident/
ingestion, the extent of exposure or amount
taken; immediate symptoms. Preserve
remaining poison ingested for chemical and
forensic analysis from containers and bottles.
Ask for any missing tablets, medicines,
syrups, etc from cupboards. Medicines
usually kept at home and list of insecticides,
pesticides, bleaches, detergents, petrol,
kerosene, turpentine, cosmetic solutions etc.
should be available.
Any open containers, tubs, buckets,
tanks filled with water in which a child
could drown should be securely
closed, locked or kept empty.
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Diagnosis of ingested toxins:
All cupboards, large boxes etc where a
child can lock himself in should be
kept closed and locked.
Sign or symptom
l
& toddlers, to prevent or minimise
injury from traffic accidents.
reach. All sockets at near floor level
should be plugged. Electric wires
should be hidden from view.
Hematemesis / Melena.
Bradycardia:
Tachycardia:
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Hypertension
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Hypotension
Likely poison
Blurred vision: Antihistaminics botulism, ethanol, Organophosphates,
Miosis: Opiates, phenothiazines, organophosphates, poisonous
Mushrooms.
Mydriasis: Antihistaminics, Atropine, carbon monoxide, Cocaine,
ethanol, tricyclic antidepressants.
Nystagmus: Barbiturates, ethanol, phenytoin
Papilledema: Chronic lead poisoning.
Burns/Stomatitis: Corrosives, iodines, phenols, thallium.
Dysphagia: Above products, Corrosives, botulism, button batteries,
phenothiazines, shell fish poisoning.
Dry mouth Atropine, antihistamines, anticholinergics.
Excess salivation: Organophosphates, Mushroom poisoning,
Corrosives, heavy metals, iron compounds, phenols, Salicylates
Anticoagulants, corrosives, iron, salicylates, theophylline.
Clonidine, digoxin, nitrites, opiates, organophosphates.
Atropine, caffeine, beta adrenergics, iron compounds, Theophylline,
tricyclic antidepressants.
Ergot derivatives, phenylepropalonamine. Adrenaline, antihistamine,
ephedrine, nicotine, tricyclic Antidepressants
Barbiturates, benzodiapines, clonidine, cyanide, methyldopa,
Monoamine oxidase inhibitors, organophosphates, reserpine.
Amatoxin mushrooms, nitrates. Nitrites, phenothiazines,
Tricyclic antidepressants
118
l
Ataxia:
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Seizures:
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Dystonic movements:
Antidepressants, antihistaminics, barbiturates, ethanol, lead.
Stimulants like amphetamine, camphor, carbamate insecticides, Carbon
monoxide, ethylene glycol, organophosphates, strychnine, metaldehyde,
theophylline, anoxic seizures from other poisoning.
Metaclopramide, phenothiazines, phenytoin, tricyclic anti- depressants.
Over activity
Atropine, ephedrine, phenothiazines, theophylline
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Respiratory signs
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Hyperpyrexia:
Central depression: Ethanol, opiates, salicylates, tricyclic antidepressants
Peripheral depression: Ventilatory muscle depressants: neuromuscular
blocking agents, organophosphates
Respiratory increase: Carbon monoxide poisoning, cyanide,
Hydrocarbons, Salicylates.
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Hypothermia:
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Dyspnea:
Petroleum distillates (kerosene).
Atropine, salicylates, tricyclic antidepressants, antihistaminics,
Dinitrophenols
Barbiturates, ethanol, opiates, phenothiazines, meprobamate
Laboratory investigations: Special
laboratories,
equipped
for
forensic
investigations need to be involved. Routine
lab investigations should be carried out that
include blood glucose, electrolytes, ABG's,
biochemical investigations for kidney and
liver damage, X ray, EKG as required.
4.
1.
5.
Gastric aspiration and lavage:
6.
Use of antidotes:
Management: Involves:
Looking
for
and
treating
threatening emergencies:
v
v
v
2.
3.
v
Contraindicated in poisoning
corrosives and kerosene.
life
Cardiorespiratory:
(ABC)
Maintenance
of
Airway,
Breathing and Circulation
Ventilatory care as required
Seizure control
Hypoglycemia.
Decontamination:
Aims at removing any poisons or
toxins in contact with body, ingested
or inhaled, by washing skin, irrigating
eyes with saline, opening windows to
remove gaseous intoxicants.
Bowel irrigation with propylene glycol,
especially if charcoal administration is
ineffective.
Emesis:
Now usually
preferred
v
119
Charcoal
Very few specific antidotes are
available. It should be carried out only
under the supervision of experts or
poison control centers. Following are
the commonly used antidotes:
v
Activated charcoal in oral dosage of
1 gm/kg in about 50-100 ml water.
Repeat 2 to 4 hourly as required.
avoided.
See under 'Diagnostic & therapeutic
procedures", section 5. Contraindicated
in poisoning with corrosives, alkalis,
kerosene, uncontrolled seizures.
v
Clearing the bowel:
with
Methylene blue for aniline and
nitrobenzene
dyes;
nitrates,
nitrites, methemoglobinemia.
Ethanol for ethylene glycol and
methanol poisoning.
Folinic acid for for folic acid
antagonists like Methotrexate.
v
v
v
v
v
v
Burns:
Dimercaprol, penicillamine for
heavy metal poisoning
Vitamin K 1 for rat poisons
Desferrioximine
poisoning
for
Naloxone
hydrochloride
morphine poisoning
As stated, burns commonly occur as
part of domestic accidents. These can result
from scalding from boiling water tea or milk,
hot pans or dishes in the kitchen, burning
objects, crackers and sparklers during
festivities, electric currents, and chemical
agents. They are common in younger
children mostly below 5 years of age as a
result of their inquisitive and exploratory
nature.
iron
for
Atropine for organic phosphorus
compounds
Acetylcysteine for paracetamol
poisoning
For management, burns are classified
into the following categories based on:
depth and degree:
Snake bites.
Of several thousand species of snakes,
some 500 are poisonous and these include
cobras, kraits and vipers. Management is on
an emergency basis and while the child is
taken to a health center, the wound should
be cleaned. The bite area should be kept
low to prevent return of the poison towards
the heart and therefore general circulation.
To prevent movement of limb immobilize
the limb. Apply pressure bandage a couple
of inches above the bitten area to prevent
poison returning towards the general
circulation. Administer antivenin 20 ml as
first aid intramuscularly. Do not tie a tight
tourniquet and do not incise the wound. If
the snake has been killed carry it to the
poison center for identification. If the snake
is confirmed as non venomous, give Tetanus
toxoid. But if poisonous, set up an
intravenous line and give 6 to 10 ampoules
of antivenin IV. Use adrenaline in case of
any anaphylactic reaction to antivenin.
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Second degree: Partial thickness:
involvement of epidermis and dermis,
but not dermal appendages.
v
v
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Superficial,
Erythema
blisters.
papillary dermis:
tenderness
and
Deep reticular: Only pressure can
be felt
Third degree: Full thickness of skin
involved. Leathery, painless.
Fourth degree: Destruction of full
thickness skin and subcutaneous
tissue.
Also taken into consideration is the
surface area of burns as percentage as
under:
Scorpion bites.
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First degree: involvement of epidermis
only. Tenderness and erythema present
The management includes:
Head and neck
Infiltration of the site of sting with a
local anesthetic.
Ventral surface
Back of trunk
Apply cold packs
Upper limbs
of trunk
Apply crepe bandage and splint the
limb.
Lower limbs
Use anti-inflammatory agents.
120
Children under Children over
5 years
10 years
20%
10%
20%
20%
20%
10%
each (20%)
10%
each (20%)
20%
10% each
each (20%)
10%
each (20%)
required (colloid) albumin may be
given after 24 hours to maintain serum
albumin at more than 2 Gms percent.
Ensure urine output at more than 11.5 ml/kg/hour and specific gravity at
less than 1.020. If hematocrit is less
than 25 %, packed red cells at10 ml/
kg. In view of release of potassium
from damage tissues potassium is
considered
after
48
hours.
A
recommended fluid administration
regime is:
Management: This is best carried out
in a special 'burns unit' as far as possible for
specialized care in view of critical care
required of a specific nature.
Outpatient management:
Indications
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If burns less than 10 % body surface
area, below age 5 years and below 15
% in older child
If burns not full thickness
No involvement of critical areas viz.
eyes, face, hands, feet, perineum.
Within
1-2 hrs
Management:
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Clean with mild soap and water.
Remove
foreign
material
and
contaminated tissue (debridement)
Apply silver sulfadiazine or other
antibacterial agent.
Burn area may be cleaned at home by
clearing the antibacterial applied and
wash with soap and water. Apply fresh
antibacterial agent and dress.
Follow up at the OPD
15-25 ml/kg
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Inpatient management:
Indications:
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Partial burns more than 10 % or full
thickness burn more than 5 %
Burns of critical areas mentioned
above
Existence of any additional chronic
illness.
Inhalation injury
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Management:
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Maintenance of strict asepsis and
temperature control in the treatment
area.
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Care of airway and breathing and
circulation
(ABC).
Intubation,
particularly in the event of inhalation
injury; oxygen initially 100%
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IV fluid preferably by central venous
route. Amount depends upon losses,
urine output, serum electrolytes. If
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121
1st
24 hrs
3.5 x BSA%
X wt. in kg
(ml)
24-48
hrs.
1.5 x BSA%
X wt in kg.
(ml)
(BSA: Body surface area)
Monitor vitals: pulse, temperature,
respiration, oxygen saturation, BP.
Catheterize
for
urine
output
measurements.
Antibiotic therapy in the event of:
septicemia, wound sepsis confirmed
by bacteriologic assessment associated
respiratory tract infection, burns more
than 40% of body surface area.
Therapy for pain control
Tetanus toxoid for prophylaxis
In the case of chemical burns irrigate
with copious amounts of water to wash
away the chemical.
Eye care: for burns, infection and
irritation.
Nutritional care: nasogastric feeding if
oral not possible or contraindicated (in
shock, ileus, burns greater than 20%
body surface area).
Surgical management initially for
wound care, and repair and skin
grafting in due course.
Follow up and Rehabilitation: medical,
surgical
and
psychosocial
after
discharge.
SECTION 3
THE NEWBORN
A.
THE NORMAL NEWBORN
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B.
Normal embryonic and fetal development
Normal adjustments at birth-from fetal to neonatal life
123
First examination of the Newborn.
127
Care in the labor room, resuscitation.
Danger signals in the newborn
When to shift baby to special care nursery
Common problems & management.
THE SICK NEWBORN
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125
127
128
128
Preterm and low birth weight babies
132
-
Congenital anomalies- internal and external
136
-
Respiratory distress
140
Common disorders at birth
-
-
-
-
-
Jaundice
Cyanosis
137
143
Cardiac failure
145
Fever & infections
145
Pallor/anemia
150
Bleeding
151
Edema
152
Vomiting
153
Abdominal distension
154
Drowsiness/Lethargy
155
Seizures
Inability to move a limb
155
156
Skull abnormalities
157
Bone and joint disorders
157
Skin conditions
122
157
1
The Newborn Baby
(A) THE NORMAL NEWBORN
Normal embryonic and fetal
development:
The fertilized egg travels from the
mother's ovary through the Fallopian tube
and gets implanted in the lining of her
uterus. This is the pre-embryonic phase.
This travel takes about two weeks. From the
third week, after the egg is fertilized, i.e.
after conception occurs, cells multiply and
the cluster of cells gradually differentiates
into body organs taking human-like shape.
This embryonic phase ends by the end of
the eighth week. From here on follows the
fetal stage, beginning at the ninth week and
ending at 38th week, or at delivery. During
this stage body organs mature through rapid
growth in size and function, from merely a
few grams to a fully grown fetus weighing
about 3 kg. Any injury, mishap, infection,
adverse medication or deficiency during this
critical phase of maturation can arrest a
function or formation of an organ or body
part resulting in a congenital defect. Earlier
the mishap during pregnancy more
devastating is the effect- resulting in
miscarriage or severe defect at birth
Adjustment from fetal to neonatal
life:
The transition from a helpless fetus,
dependant on the placenta for nutrition,
respiration etc to an independent individual
at birth occurs naturally and in most
deliveries without complications. However,
a close monitoring is required to anticipate
any undesirable event. Most important in
this context is establishment of normal and
spontaneous respiration from a 'non
breathing' fetus to a baby capable of
breathing on its own through its lungs. In
utero a baby lives in a comfortably warm
fluid, protected from stimuli like cold, bright
light etc of the outside environment At birth,
all physiologic functions in addition to
breathing, like sucking, swallowing, feeding,
excretion, fetal to normal circulation
temperature regulation etc must occur
through the process of a smooth transition.
Establishment
of
normal
respiration: Before birth, around 20 weeks
of gestation, a fetus does breathe but
ineffectively, The first breath after birth
results from a number of stimuli, including
hypoxia, acidosis, cord clamping and
change of temperature. Hypoxia during
delivery and the accompanying acidosis
result in stimulation of the carotid and aortic
chemo receptors. Clamping of the cord
results in rise of systemic blood pressure.
The sudden outside cold acting on the facial
skin stimulates the cold receptors of the
trigeminal nerve, opens up the lungs and
causes the first breath and the associated
cry. Fetal circulation of blood occurs by
short circuiting the lungs, through the ductus
(connecting pulmonary artery and the
aorta); but after the lungs open up, in due
course, the ductus closes resulting in normal
adult type of circulation.
Fetal to neonatal circulation:
Before birth placenta provides some amount
of oxygen of the maternal circulation to the
fetus. Less than 10 per cent blood from the
fetal ventricles passes through the lungs
while placenta receives more than 50
percent. Oxygenated blood from the
placenta brought by the umbilical veins
joins the portal vein. Most of this blood
passes from the ductus venosus to the
inferior venacava and enters the right
atrium. From here most of the blood passes
to the left atrium through the foramen ovale
and thence to be pumped through the left
ventricle to head and upper extremities. The
superior venacaval deoxygenated blood
enters the right ventricle through the
tricuspid valve. Some of this blood enters
the pulmonary circulation and the rest
through ductus arteriosus to the descending
aorta to be distributed to the lower limbs.
With rapid fall of vascular resistance
pulmonary flow increases and increase in
systemic vascular resistance occurs. This
reversal of pressure changes between the
aorta and pulmonary trunk establishes some
left to right shunt through the ductus
arteriosus. However, in full term babies the
ductus rapidly closes on exposure to oxygen
and normal neonatal circulation is
established by 8 to 12 weeks after birth.
the bedding, particularly if it is cold.
The skin temperature of a baby falls by
0.3°C and the core temperature by
0.1°C per minute, equivalent to a loss
of 200 kcal/kg/minute.
Thus regulation of the baby's
temperature is essential and emergent to
prevent complications and death. The baby
regulates its temperature through the heat
regulating (thermo genetic) center in the
anterior hypothalamus.
Transition in feeding: Before birth a
baby draws its nutrition from the placenta
through the umbilical vessels and the gut is
barely functional. By the fifth month
intestines function as outlet for the amniotic
fluid. At birth the function of the gut is
ready and with the first feeds the intestinal
flora begins to develop. The breast milk is
the source of nutrition and is readily
available to be fed within an hour or two. As
the gut matures, functions establish resulting
in digestion, absorption excretion etc.
Transition
in
temperature
regulation: Before birth, the fetus lives in a
warm, fluid environment of the uterus at a
higher temperature than its mother. At
delivery he faces a cold labor room and is
wet, with its skin exposed to the
environment. He rapidly loses heat as a
result of its large surface area from:
a)
evaporation from its wet skin;
c)
radiation to the surrounding surfaces
like the walls of an incubator etc and
b)
d)
Transition in immunity: The status
of immunoglobulins at various ages is
broadly shown in the table below. The total
immunoglobulin levels acquired by the baby
from its mother reach the lowest point at the
age of 4-5 months, subjecting the baby to
hazards of infection before baby makes its
own immunoglobulins. The infant is
additionally protected against infectious
diseases with the help of vaccines to cover
this gap in immunization. Colostrum the first
breast milk is a rich source of immunoglobulins and other anti-infective agents.
convection, depending upon the
temperature difference between baby's
skin and the surrounding air;
a small amount from loss from
conduction to surface of contact like
Immunoglobulin
Status at birth
Appearance
Adult levels by
IgM
Undetected
Begins to appear by day 6
1 year
IgA (and IgE)
Undetected
Appears by day 13
6 to 7 years
IgG
Maternal, present
Disappears by 6 to 8 months
7 to 8 years.
Table: Note that around middle of the first year immunoglobulin levels will be low.
124
Like
immunoglobulin,
immunity
provided by cells like polymorphs,
lymphocytes etc is also inadequate at birth.
baby. This is because every labor is an
event that must be treated as an emergency.
Failure to do this could threaten survival or
even if survival is ensured, it may result in
life long handicap and misery to the family.
Fortunately however, most deliveries occur
in a routine, natural manner with a happy
outcome for the family but this cannot and
should not be assumed.
Transition in source of oxygen:
Before birth the source of oxygen for the
fetus is the placenta. In order to carry
adequate oxygen, the number of red blood
corpuscles (RBC's) provided is high. As soon
as the child's lungs expand and become
functional adequate oxygen is available so
that the excess RBC's provided are no longer
required. The breakdown of these cells
liberates indirect bilirubin within them into
the blood stream resulting in what is called
'physiologic jaundice' on around the third
day of life. This jaundice gradually
disappears in about a week in normal babies.
l
Other transitions: In addition to the
above, several transitions occur with age in
each system and organ, such as in the
nervous system, gut, kidneys, and excretory
functions and so on that are important for
continued survival and quality of life. See
details elsewhere (Section 1, pages 6-11)
Care in the labor room:
Readers are referred to the standard
protocol for resuscitation of the newborn
(National Neonatoloty Forum adopted from
recommondations of American Academy of
Pediatrics).
All babies in India are not fortunate to
be born in a well equipped labor room.
Many are born at home in a village with
little assistance, some in a rural health
center, a few in a district hospital and fewer
in a tertiary care hospital in a city. In
unusual circumstances, women are known
to have delivered in a bullock cart, a bus, a
train or even a rickshaw, on way to the
nearest center! It is every baby's right
however, to be born in a reasonably well
equipped labor room whether in a health
center or a hospital where optimal care can
be provided both to the mother and the
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125
Information should be available before
birth regarding, prior obstetric history,
ante-natal events, medication, health
and illness in the mother and so on, in
order to anticipate action required. A
list of factors has been worked out to
identify mothers 'at risk' who need
attention at and after delivery.
Although these are important from the
mother's point of view, the motherbaby duo is inseparable in terms of
their joint welfare. These factors are:
Poor, uneducated mother, height of
mother < 145 cms and weight < 40
kg., hemoglobin < 8 gms %, birth
interval from last birth < 24 months,
mother having her first baby or more
than fifth, mother's age < 20 or > 35
years., mother diabetic or having
chronic disease, bad obstetric historyabortions, still births, early neonatal
deaths, low birth weight babies,
congenital defects of babies in the
past; mother Rh negative blood group)
The labor room temperature should be
around 24 to 25 °C. Draughts should
be prevented, especially during winter
months.
The person conducting the delivery
should wash her hands upto elbows
and put on a sterile gown.
Receive the baby keeping it in head
low position below the level of the
mother's perineum to enable draining
of secretions.
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Suck secretions if any gently, with a
mucous catheter.
SIGNS
After the cord pulsations seize cut and
tie the umbilical cord using a sterile
clamp, scissors and thread (as per
routine in the labor room), Apply triple
dye to it or whatever routine is
followed in the labor room.
Heart rate
Absent
Respiratory rate
Absent
Muscle tone
Flaccid
Reflex irritability
(response to
catheter in nose)
Place the baby on the side on a sterile
sheet in a pre warmed cot.
Color
Clean baby's eyes with sterile normal
saline, medial to lateral direction,
discarding the swab each time. As per
procedure instill sulphacetamide (10%)
or silver nitrate drops.
2.
Before passing the baby on to the
mother's waiting arms carry out certain
procedures.
3.
Do a routine physical examination to
rule out any situation necessitating
observation in the nursery or intensive care.
1.
0
Note color of the baby, rectal
temperature, heart and respiratory
rate. At the end of the first minute and
after 5 minutes after birth assess the
Apgar score. This scoring technique
was devised by Virginia Apgar in 1952
to assess the status of a baby at birth
based on scoring the heart and
respiratory rates, muscle tone, reflex
irritability and color. Each of these
characters is given a score of 0, 1 or 2
as shown in the table below. Babies
scoring over 8 at one minute are
normal; score 5 to 7 indicates
moderate difficulty at adjusting to the
environment needing oxygen and
Ambu bag and; a score below 5 is
serious
enough
to
necessitate
endotracheal intubation and intensive
care.
Below
100
2
Above
100
Slow,
gasping
Crying
Flexed
Nil
Some
flexion
Grimace
Cry
Pale,
Blue
Peripheral
Cyanosis
Pink
Exclude any external anomalies like
hare lip, cleft palate, polydactyly,
Exclude spina bifida, head/facial
anomalies,
any
obvious
visible
anomalies of the genitals, limbs,
deformities etc.
Some
life
threatening
internal
anomalies can be excluded by a simple
catheter test. Pass the catheter first
through the nose, down through the
esophagus into the stomach and
aspirate the stomach contents. Then
make an effort to pass the catheter
into the vagina and finally into the
rectum. The test reveals anomalies as
under:
a.
b.
c.
126
1
If the catheter easily passes into
the pharynx, it rules out posterior
choanal atresia (obstruction at
the back, in the posterior nares).
This
anomaly
can
cause
breathing
difficulty
and
if
bilateral, can be fatal.
If the catheter can easily pass
down into the stomach it rules
out esophageal atresia
The
characteristics
of
the
aspirated secretions from the
stomach
indicate:
intestinal
obstruction
if
the
aspirate
amount is large-more than 30 ml
d.
e.
and pyloric obstruction if it is bile
stained.
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Inability to pass the catheter into
the vagina indicates vaginal
atresia
Imperforate anus will not allow
catheter to be passed up the
rectum
Thus a number of anomalies can be
ruled out with the catheter test but this test
is not a routine at all centers and is
restricted to certain situations where
suspicions arise.
4.
5.
6.
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As per practice in the labor room, put
an identification band on the baby.
There is a routine in some labor rooms
to inject every baby with 1 mg Vitamin
K to prevent hemorrhage. In some
others this injection is given only to
immature babies less than 2000 Gms,
difficult deliveries- forceps, vacuum
extraction or in whom hemorrhage
may be suspected.
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If all is well, the baby can be put with
its mother in skin to skin contact for
the warmth of the baby (kangaroo care
see p 135) and the emotional comfort
of the mother. After observation and in
the event of any indications the baby
can be shifted to the nursery for
further management.
Cardio respiratory: Lips and tongue
should be pink, respiration continuous
and without difficulty in breathing.
Respiration may not be entirely regular
but should be continuous. The apex
beat is strong and regular but no
impulse is normally seen. Feel the
femoral pulse at the groin. If absent
coarctation of the aorta is likely which
should be investigated.
GIT: Able to suckle and swallow.
Meconium is passed soon. It is black but
has no smell. Sometimes a hard white
plug of mucus may be passed initially
followed by meconium which should
not be delayed beyond 48 hours.
Urine is passed usually within a few
hours after birth. Look for any genital
anomalies like phimosis etc.
Feel the limbs for tenderness, swelling
or injury.
Look at the eyes, size and shape of
pupils, red light reflex.
One examination may not be sufficient
and a follow up is required while the baby is
in the hospital before discharge. At
discharge follow up appointments should be
given periodically,
particularly
if
a
suspicious finding is observed.
Danger signals in the newborn
First Systemic examination of the
newborn
The baby 'at risk' should be identified
for prompt care. A list of factors has been
worked out to readily pick up those in need of
urgent care. The nurse on duty should report
any such deviation from normal such as:
Normal function of systems should be
assessed to look for any anomalies, signs of
birth injury etc.:
l
soft tissue injury.
CNS: Tone of the arms and legs should
be good. Look for skull circumference
and fontanels, spinal defects if any like
spina bifida and meningo and
meningomyeloceles.
Look
for
movements and if a limb is immobile
or moves less, consider bone, nerve or
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127
Labored breathing
Jaundice on the first
persisting beyond a week
day
or
if
Central cyanosis (cyanosis with warm
mucous membrane of lips, tongue,
mouth)
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Refusal or poor feeding
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Abdominal distension
v
Vomiting and/or diarrhea
Choking during feeding
Lethargy.
Excessive crying
v
Convulsions
No stools for 24 hours
No urine for 48 hours
Bleeding from anywhere
v
Sudden rise or fall of temperature,
overheating.
Skin sepsis, rash, purulent umbilical
discharge.
When to shift baby to special care
nursery
l
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l
l
l
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The mouth, abdomen and GI
Tract
v
The indications are:
Birth weight less than 2000 gms
Gestation less than 36 weeks
v
Severe birth asphyxia indicated by an
Apgar score of 3 or less
Life threatening congenital anomalies
Diabetic mother
Rh negative mother and possibility of
rhesus isoimminization.
Any gross systemic problem
Some common problems in the
newborn
Every nurse must be able to recognize
normal appearances and some minor
deviations from the normal and be able to
understand those needing attention. They
are briefly described below. Some of these
may be considered "normal abnormalities"
Abnormal appearances or symptoms are
separately described under the chapter on
the 'sick newborn'
v
v
128
Sucking callosities: small, round
swellings over middle of the
upper lip in some babies result
from sucking during intrauterine
life.
A fibrous band or a membrane
near the tip of the tongue is
called a 'tongue tie' and is in
itself of no consequence.
Uncommonly, some babies are
born with one or two lower
incisor teeth. If they loosen, they
could be aspirated accidentally
and
should
therefore
be
removed.
White spots on either side of the
median raphe of the palate are
termed Epstein's pearls ("chor
dant" in Hindi), but are of no
consequence.
Vomiting: On the first day it is
often due to swallowed amniotic
fluid. If persistent it is corrected
by stomach wash. Faulty feeding
technique or air swallowing
(aerophagy) causes vomiting and
is corrected by teaching mother
the technique of burping and
feeding. If vomiting is bile
stained, projectile, blood stained
or
associated
with
other
symptoms. It is abnormal and
needs attention. (See section on
'sick newborn')
Constipation is often present in
babies fed on formula milk
However it can be present in
hypothyroidism, Hirschsprung's
disease or obstruction of the gut
and needs urgent attention
Loose motions: By the third/
v
v
v
v
fourth day the stool is normally
yellow-green
and
somewhat
loose. The baby may pass a stool
after
each
feed
due
to
exaggerated gastro colic reflex.
Thus a few semi loose stools at
this stage is normal. However
very large or loose or watery
stools need attention. Certain
metabolic diseases can cause
loose stools. Infective diarrhea
may be associated with fever,
mucoid and bloody stools.
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Meconium is the first dark tarry
stool a baby passes within 2 to 3
days. Failure to pass meconium
within 24 hours after birth needs
to be investigated for obstruction
in the gut.
Evening and night colic: A few
days after birth some babies get
episodes of sudden crying,
shrieking, getting red in the face,
drawing up thighs over the
abdomen at a usually specific
time in the evening, usually after
4 or 5 pm and often in the
nights, as though with clockwork
precision. These episodes are
extremely disturbing to the
parents and gradually disappear
around the third month of life.
Medicines are ineffective but
some safe antispasmodic drops
can be given half hour before the
expected time of the episode of
colic.
nodule which has a minor
discharge. The treatment is
cauterization.
Dehydration fever: Is a result of
warm ambient temperature in normal
babies and is not pathological. It is
due to poor dissipation of heat
together with inadequate feeds. No
treatment is required except keeping
the room cool in summer.
Breast and External genitals:
v
v
v
Umbilical hernia may appear
after the neonatal period after
the cord is cut. It does not
require any treatment as it
disappears by about one year or
so.
v
Umbilical granuloma is a shiny
v
129
Mastitis Neonatorum: The baby's
breasts may engorge soon after
birth in a full term baby. This is
due to transplacental passage of
maternal hormones and is of no
consequence. Any attempt at
squeezing
the
breasts
for
expressing the secretions (called
witch's
milk)
massage
or
fomentation should be strictly
avoided.
Vaginal secretions or bleeding:
Towards the close of the first
week bleeding can occur in
female babies as a result of
withdrawal
of
maternal
hormones for a couple of days.
No specific treatment is called
for. Secretions in the form of
mucoid,
shiny
grayish-white
maternal may occur in some
babies and again is not of any
concern.
Mucosal tags at the hymen are
normal in a substantial number
of female babies
Non retractile prepuce is normal
and should not be mistaken for
phimosis. After the age of 5 to 6
months the prepuce should be
retracted gently during bathing.
Hydrocele: A fluid containing sac
l
may be observed in one of the
scrotal sacs during the neonatal
period. This actually is a small
hydrocele and disappears by the
3rd or 4th month. If persistent
later, it should be considered for
operative intervention.
v
Skull and face
v
v
v
Craniotabes:
A
feeling
on
pressure like a ping pong ball in
a localized area of the skull is
normal.
v
The skull may be asymmetric in
shape and is the result of position
in the uterus. The occiput may
be flat from lying position after
birth but in due course the shape
becomes normal. If however the
skull circumference is too large or
small, the shape could be from
an abnormal cause which needs
investigating.
v
v
Caput succedaneum: As a result
of
compression
over
the
presenting part of the skull at
birth, a soft, boggy swelling
appears over the part due to
edema of the localized area. This
clears spontaneously in the space
of a few days (Fig. 35a).
v
Caput succedaneum
Cephalhematoma: This swelling
over the scalp results from birth
injury and is a collection of
blood under the periosteum. In
view of its subperiosteal position
it does not go beyond the sutures
unlike caput succedaneum which
is
more
diffuse.
Cephalhematoma clears in a few
weeks, unlike caput which clears
in a few days (Fig. 35b).
Cradle cap is the presence of
crusting of the scalp which clears
eventually. It clears in due course
with application of bland oil and
shampooing.
An occasional 'setting sun'
appearance is normal in a baby.
A persistent sign may indicate
hydrocephalus.
Congenital nasolachrymal duct
obstruction can cause watering
or discharge from the eyes.
Application of eye drops with
massage of the lachrymal sac
and the nasolachrymal duct
clears the discharge in about 3 to
4 months. If this does not
happen, probing and syringing
by the ophthalmic surgeon may
be indicated.
Subconjunctival hemorrhage
Cephalhematoma
Blood
under
Periusteum
Periusteum
(A)
Fig. 35
130
(B)
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The skin: Some conditions of the skin
that are of no concern often worry
mothers. Some of the common
appearances are described below:
v
v
v
v
v
Erythema toxicum: Reddish rash
with pale center appears on the
second or third day over the
face, spreads downwards but
disappears by the third day
without treatment
v
Marble skin or cutis marmorata is
a lacy mesh like skin appearance
like marble usually seen in a cold
environment.
v
Milia: Yellowish white spots on
the
nose,
disappear
spontaneously and result from
retention of sebum
Acne neonatorum are lesions
131
resembling acne seen over skin
of the nose, forehead and face.
Disappear in a few days.
Mongolian spots are bluish
patches of skin over the lower
back seen in Asian children.
They are benign and no
treatment is indicated. They are
not due to bruising.
Salmon patches are pink-gray
spots,
actually
capillary
hemangiomas seen most often at
the nape of the neck
Harlequin color change is sudden
blanching or pallor of skin over
half of the body with usual pink
color of skin in the remaining
half. The phenomenon lasts a
few moments only.
(B) THE SICK NEWBORN
Pre Term and Low Birth Weight
appropriate) for gestational age of 36 weeks
is 2200 Gms. Thus a preterm baby of 36
weeks who is 2200 Gms will be called
"pretem
but
appropriate
for
date"
("PTAFD"); less than 2200 Gms at 36 weeks
will be termed "preterm small for date" or
"PTSFD". Similarly full term babies can also
be small or appropriate for their expected
normal weight and can be labeled as full
term small (FTSFD) or full term appropriate
for date (FTAFD). All babies who are small
for their gestational age (PTSFD and
FTSFD) are termed "intrauterine growth
retarded" (IUGR) since they have failed to
grow to their expected weight for their
gestational age. Such babies do poorly in
life in terms of growth morbidity and
mortality compared even to the preterm but
who is appropriate for date (PTAFD).
Classification of babies according to
gestational age and birth weight:
Full term:
Preterm:
Babies born after completing
37 weeks of gestation.
Babies born before completing
37 weeks of gestation.
Post term: Babies born after completing
42 weeks of gestation
Low birth weight baby (lbw): Baby
weighing less than 2500 Gms at birth,
irrespective of duration of gestation and
includes babies born at or before term.
Just as there are norms of weight for
children after birth there are also norms of
weight for the unborn baby at various
gestational ages (see Appendix I). For
instance the 50th percentile (normal or
Weight
Normal, expected.
Normal, expected
Less than expected
Less than expected
Gestation
Full term
Preterm
Full term
Preterm
Thus to summarize:
Term used
Normal healthy baby.
Preterm appropriate for date.
Full term small for date
Preterm small for date
Physical features of preterm
babies
Prognosis
Good
With good care: Good
IUGR: Need care
IUGR: Need care
caseosa.
Sole creases are characteristically
underdeveloped or absent. Testes in the
male are undescended and in the female
labia majora are separated wide exposing
the minora
Preterm babies are small in all
anthropometric measurements, i.e. weight,
length, skull circumference etc. Movements
are sluggish and as a result of lower than
normal muscle tone, their limbs are
stretched unlike that of normal mature
babies who normally remain in a flexed
posture of limbs. Skull sutures are widely
separated and fontanels wide open. Hair is
wooly. The ear cartilage is undeveloped and
the ear recoil is poor. There is poor
subcutaneous fat and the skin is shiny, pink
and covered with insufficient vernix
Systemic deficiencies
Premature babies are 'immature' in
many
functions.
These
and
their
consequences are enumerated below:
The Lungs:
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132
Deficient surfactant may result in
hyaline membrane disease (HMD)
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Poor diffusion of gases in the alveoli
may
necessitate
resuscitation
procedures depending upon the extent
of immaturity of the cuboidal
epithelium.
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Likely to develop atelectasis from
aspiration and need for resuscitation.
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Delay in the normal closure of the
ductus resulting in patent ductus
arteriosus (PDA). More premature a
baby more the delay. HMD and
hypoxia increase the incidence of PDA
and cardiac failure as a consequence.
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The gut
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The premature baby's gut has certain
peculiarities such as poor fat tolerance,
incompetence of the cardioesophageal
sphincter causing gastroesophagial
reflux, poor muscle tone and
predisposition to enterocolitis.
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The function of the liver enzyme
glucoronyl transferase (responsible for
conversion of bilirubin to its more
soluble form) is immature so that bile
excretion is diminished, exaggerating
neonatal jaundice of the hemolytic
type (indirect hyperbilirubinemia).
l
l
Low serum albumin. Hypoproteinemia
folic
acid
Vitamin 'E' deficiency
Calcium and vitamin D deficiency may
result in rickets and poor bone
formation.
Premature babies are dull and lethargic
with poor reflexes such as sucking,
swallowing and cough reflex resulting
in greater susceptibility to aspiration
and need for resuscitation.
They
are
also
susceptible
to
hemorrhages in the brain as a result of
increased capillary fragility from
hypoxia of apnoeic attacks.
Retinopathy of prematurity (ROP) as a
result of high oxygen tension in the
arterial blood occurs in preterm babies
less than 32 weeks gestation
Poor glomerular filtration rate resulting
in acidosis (due to high BUN)
Poor ability to concentrate urine, poor
ability to conserve water and therefore
increased susceptibility to dehydration.
Diminished clearance of drug by
immature kidney and possibility of
toxicity.
Poor storage of iron, resulting from
inadequate period of gestation
Temperature regulation:
Liver being an important detoxifier,
drug toxicity is likely from poor
detoxification.
Susceptibility to infection
l
Inadequate hepatic glycogen store in
the liver increases susceptibility to
hypoglycemia.
l
Vitamin and mineral deficiencies:
l
and
Kidneys:
The liver
l
Iron
Central nervous system:
Heart and blood vessels:
l
resulting in
deficiency
Poor storage from short gestation
133
Heat loss from large surface area and
poor generation of heat as a result of
inadequate brown fat are responsible
for poor control of body temperature.
Premature babies are vulnerable to
infections as a result of: low IgG and
poor cellular immunity. Contaminated
nursery equipment further increases
the possibility of infection
Management of Premature babies
The problems that need management
in the premature are as under:
l
l
l
l
Initiation
and
respiration.
maintenance
of
Temperature conservation
Initiation of feeding
Protection from infection
l
The quality of care that can be
provided varies with equipment and
personnel available at a given center, such
as a primary health care center, district
hospital (secondary care center) or a fully
equipped neonatal care center at an urban
center (tertiary care center). While the
general principles of care remain the same,
training and equipment determine its
quality.
l
Conservation
of
warmth,
administration of oxygen and humidity can
be managed with incubator care or an
improvisation that can provide similar
service. An incubator also provides isolation
and prevention from infection. Use of
incubators is necessary for very low birth
weight babies below 2000 gm.
l
At a peripheral center this can be
improvised: A primitive incubator can be
made by using a deep box or a cot with
solid sides, covered with a sheet of Perspex
and lined with clothes, cotton wool or other
padding. Warmth can be supplied from hot
water bottles properly covered .Oxygen can
be bubbled through water and fed into the
'tent' thus made, near the head of the baby.
The room can be humidified with steam
coming from boiling water kept at a
distance. At higher and more established
centers, various types of incubators are
available. The most sophisticated ones
provide:
l
of skin sensors (thermocouple) applied
to the baby's abdomen. Uniform heat
is distributed throughout the incubator.
Low reading thermometers enable
reading low temperatures and they are
also equipped with alarms to warn
when temperatures are too low or high
in the incubator
Warm, humidified oxygen (to 36 to
36.5 °C). Oxygen blenders that blend
oxygen and air are used. They are
interposed with oxygen analyzers
enabling
delivery
of
precise
concentration
of
oxygen-thus
preventing oxygen lack or toxicity.
Humidity
is
provided
through
humidity chambers. The latest ones do
not need use of water which could be
a source of infection. Humidity is
necessary to counteract the drying
effect of oxygen and prevent crusting
of the respiratory secretions
To enable visual observation with
minimum interference and handling,
the material used is Perspex. Portholes
with 'iris diaphragms' allow hands to
be introduced into the incubator for
nursing procedures without need to
open the whole box thus conserving
temperature inside the incubator. The
open box type Armstrong variety lacks
this feature.
Increasing use is made now of Radiant
Heat Warmers through an open care system,
which provides two lamps of 150 watts,
about 2 to 3 feet above the table on which
the infant lies. Infra red lamps have the
advantage of warming the baby without
heating the surroundings. Thermal control is
through servo control and alarms warn
about
excess
or
low
temperature.
Advantages of open care systems are: easy
nursing especially for prolonged procedures
from the open space available and less
Warmth through 'servo control' which
is automatically adjusted with the help
134
chances of nosocomial infections induced
by closed space and apparatus used.
Additionally, these systems can be provided
with a Phototherapy unit above the trolley.
The disadvantage however, is evaporative
fluid loss. Open care systems are good for
handling most babies other than those with
very low birth weight or those seriously ill.
mother to be carried out later at home.
Mother should also be taught to breast feed
her baby in the Kangaroo position. Duration
of the skin to skin contact in Kangaroo care
should be almost continuous, interrupted
only by diaper changes. Since mother will
remain exposed most of the time, her
privacy must be respected and the staff
should be sensitive in this regard.
Premature infants usually have low
blood sugar values during the first few days
of life and not all babies show this with
symptoms. Monitoring blood sugar values is
therefore important. In the event of
hypoglycemia, set up an IV infusion and
give 10% glucose. Initially a bolus of 25 %
glucose may be given in a dose of 0.5 gm
per kg body weight.
Feeding of low birth weight infants:
Gestational
age
32 weeks
35 weeks
Kangaroo Mother Care (KMC)
This is a special way of caring for the
low birth weight babies. It improves their
health and well being by promoting effective
thermal control, breast feeding and
prevention of infection and mother infant
bonding. The baby is continuously kept in
skin to skin contact by the mother and
exclusively breast fed. This kind of care is
initiated at a hospital or health center and
continued at home.
Birth Wt.
Feed
Less than
1500 gm
IV
More than
1500 gm
5% glucose, 3-4 hrs.
after birth, breast
milk 2-3 hourly or
top milk if breast
milk not available
Tube feeding
If breast feeding is not available the
following schedule can be followed:
Preparation
of milk
The procedure : Baby is kept in
upright position between mother's breasts.
Head is turned to one side slightly extended
to enable an open airway and eye to eye
contact between mother and baby. Baby's
hips are abducted and kept in frog position.
Baby's abdomen is level with mother's
epigastrium.
Mother's
respiratory
movements during breathning stimulate the
baby thus reducing possibility of apnea.
Baby's bottom is supported by use of a sling.
Cow's Milk
Buffalo's
Formula
(whole milk)
Proportion
of Milk
to water
Proportion
of Milk
to water
Undiluted
Undiluted
1st week
1:1
Milk: Water
1 measure
powder to
30 ml water
After 1st week
3: 1
Milk: Water
1 measure
powder to
30 ml water
Additionally: From 2 weeks:
Vitamin A 2500 IU
Vitamin C 50 mg
Vitamin D 1000 IU
Careful monitoring of baby's breathing
and temperature should be done initially at
the health center where the procedure is
monitored by the staff and taught to the
From 4 weeks
10 -15 mg Iron per day
Breathing in premature infants less
135
than 37 weeks is usually periodic with short
apnoeic spells, but if a spell exceeds 20
seconds, it calls for action:
l
l
l
l
l
Flickering
breathing,
the
feet
to
v
v
stimulate
Sucking the pharynx with a mucous
catheter and
Oxygen by face mask.
If these fail, tracheal intubation is
carried out to provide oxygen by IPPV.
l
l
l
confirmed
Prevention:
Some
congenital
malformations can be prevented by timely
intervention but most others that do not
have any predisposing causative factors are
not preventable: From available current
knowledge, following interventions could be
effective:
The stomach is emptied with a tube to
avoid aspiration on the way
A record of the baby's condition is
recorded in respect of temperature,
respiration, color etc.
Provide a spare I V set and fluids for
the journey
l
Send a check list of the following
records and articles with baby:
v
v
Consent of parents for any
operations
or
procedures
required to be carried out.
Congenital anomalies at birth can be
grouped in to: external- that can be seen on
examining the whole body carefully, such as
polydactyly, meningocele, hare lip etc. and
internal that can be diagnosed by
examination and investigations. Those that
are life threatening or need to be diagnosed
at birth can be detected by the catheter test
described on p 126 and include posterior
choanal atresia, esophageal atresia, pyloric
obstruction,vaginal atresia and imperforate
anus. Other internal and systemic anomalies
can be diagnosed by a careful examination,
clinical suspicion and if need be, by
investigations during follow up. These are
discussed in later sections.
A worker from a peripheral or
intermediate center may like to refer a sick
baby to a higher referral center; the
following care should be taken to prevent
any further deterioration in the condition of
the baby. The transport vehicle should be
equipped so as to enable the baby to be
kept warm, given oxygen or resuscitated as
required. An experienced nurse or a doctor
should accompany the baby. Before the
journey ensure:
l
v
A note of the condition of infant
and treatment given during
transit
Congenital malformations:
Transferring a sick newborn to a
referral center
The baby's identity is
(identity band, records)
Maternal and cord blood samples
Disorders at Birth and their
Management
Other disorders in the prematures, that
are common with other newborns are
discussed elsewhere.
l
Treatment given
v
v
Clearing mucous,
Procedures and lab. tests carried
out and their results
Obstetric history
l
Labor details
136
Avoiding pregnancies in elderly
mothers
may
prevent
some
chromosomal disorders such as
trisomy 21 etc.
Avoiding consanguineous marriages to
reduce incidence of genetic disorders.
l
l
l
l
l
l
l
Screening couples before marriage to
ensure that a would-be spouse with an
inherited genetic trait or disease does
not marry the other with the same trait
or disease as in the case of
Thalassemia.
V)
VI)
VII)
VIII)
IX)
X)
XI)
XII)
XIII)
XIV)
XV)
XVI)
Avoiding irradiation and drugs during
early pregnancy, particularly those
known to be teratogenic.
Folic acid administration during
pregnancy and possibly before a
planned conception could reduce the
incidence of spina bifida.
Antenatal diagnosis indicated in
specific instances, for example with the
history of an affected sibling, to ensure
that the anomaly is not repeated.
Instead of describing disorders system
by system (viz. respiratory, gastrointestinal,
neurological, cardiac etc.), these are
discussed here, based on symptoms and
signs presented or recognized by the nurse,
mother or health worker. This approach is
believed to be more rational and practical
since illnesses present as symptoms and
signs.
Identification of Rh negative mothers
and prompt administration of anti-D
immunoglobulin as required at birth.
Antenatal diagnosis of polyhydramnios
that may anticipate anencephaly,
intestinal obstruction, ectopia vesicae
etc; and oligohydramnios that may
anticipate
renal
agenesis,
renal
dysplasia, polycystic kidney etc.
I. Jaundice
A large proportion of babies, (about
60 per cent of full term and more of
preterm), have jaundice at birth. Both direct
and indirect bilirubins color the skin yellow.
In the newborn indirect bilirubin can cross
the blood-brain barrier and stain the brain
causing damage. Physiologic jaundice is
present in almost all babies but may not be
obvious unless the skin is carefully
examined. This occurs because in the
intrauterine life oxygen is provided to the
baby by an excess of red blood cells, since
the lungs are not providing oxygen. Soon
after birth and with the opening up of lungs
atmospheric air provides the oxygen. The
excess red blood cells break down, release
bilirubin within them into the blood
circulation and result in jaundice in 24 to 48
hours after birth in term babies. Peak levels
are reached on the 4th or 5th day. In
Identification
of
any
obvious
malformations in the fetus that can be
seen by ultrasonography and promptly
managed at birth.
Some common systemic disorders
A neonate, at or soon after birth may
present with certain signs and symptoms.
One must be quick to pick up any deviations
from normal and learn to recognize them and
understand their significance. The common
symptoms of illness and/or signs that a baby
may present at birth are:
I)
II)
III)
IV)
Fever and common infections.
Pallor/Anemia
Bleeding from any source
Swelling, edema
Vomiting
Abdominal masses, organomegaly.
Excessive drowsiness, lethargy
Seizures, convulsions
Inability to move a limb, paralysis
Skull size, small or large
Skin disorders
Bone and joint disorders
Jaundice
Respiratory distress.
Cyanosis, Congenital heart disease
Cardiac failure
137
transferase enzyme in the liver. (Levels
can be estimated in the blood)
premature babies jaundice may appear a
little earlier and last longer as a result of
immaturity of the liver enzymes that clear
the bilirubin. The peak levels of serum
bilirubin are about 10 and 14 mg/dl in term
and premature babies respectively. The
following parameters indicate that jaundice
is not physiological and needs further
investigation for pathological cause and
management:
l
l
l
l
Causes of direct hyperbilirubinemia:
l
l
Appearance of jaundice before the age
of 48 hours
l
Serum bilirubin exceeding 12 mg/dl
Jaundice lasting longer than 10 days
Unconjugated
(indirect)
exceeding 2mg/dl
bilirubin
l
Jaundice is then classified as indirect
(unconjugated) hyperbilirubinemia or direct
(conjugated) hyperbilirubinemia depending
on which of the two fractions is increased.
l
l
l
l
l
l
Jaundice (direct type) appearing after
the first week of life- consider
congenital biliary atresia
Metabolic diseases involving the liver
(galactosemia,
tyrosinemia,
fructosemia etc)
Indirect
Hyperbilirubinemia
Hemolytic disease of the newborn as a
result of blood group incompatibility
between mother's and baby's blood
(ABO or Rh groups)
Hypothyroidism (hemoglobin
reticulocyte count normal)
Congenital infections involving CNS
(maternal infection during pregnancy
"TORCH" group causing microcephaly,
CNS signs etc)
Causes of Jaundice during
first two weeks
Causes of indirect hyperbilirubinemia:
l
Intrauterine infection or post natal
sepsis if jaundice (raised direct
bilirubin fraction) appears in the first
week of life.
l
and
Septicemia
l
TORCH infections
l
Physiologic
l
Same as above
l
l
l
Hematoma anywhere in the body can
contribute to serum bilirubin, such as a
cephalhematoma
l
Rh incompatibility
l
Hemolysis as a result of G-6PD
deficiency, a red cell enzyme
(haemoglobin low, reticulocyte count
high)
Onset before 48 hours:
l
l
Breast milk jaundice (hemoglobin and
reticulocyte count normal)
ABO and
Direct
Hyperbilirubinemia
Onset after 48 hours
G-6PD deficiency
Resorption from
hematoma
l
Malaria (unusual)
Breast Milk jaundice
Onset after 1 week
G6-PD deficiency
Hypothyroidism
l
l
l
Neonatal hepatitis
Sepsis (gram neg.)
Biliary atresia
Management of Jaundice:
Hereditary
spherocytosis
(spherocytosis in peripheral blood,
anemia, increased red cell fragility,
splenomegaly)
Prevention:
l
Congenital deficiency of glucoronyl
138
Prevention of Rh incompatibility by
administration of 300 mg of human
anti D globulin within 72 hours of
delivery or abortion
l
Avoiding drugs:
v
v
v
Treatment:
l
l
v
known to precipitate hemolysis in
infants with G-6PD deficiency
Which compete with glucoronyl
transferase
for
conjugation
(gentamycin, kanamycin)
v
That compete with bilirubin
binding sites (sulphonamides,
frusemide, kanamycin)
v
Feeding: Entero-hepatic circulation is
reduced by proper feeding and
maintenance of fluid balance by
preventing
hypoglycemia
and
colonization of the gut by bacteria.
Phototherapy:
(see
section
'procedures') This is used:
v
v
v
v
on
v
In low birth weight babies after
excluding hemolytic disease and
serum bilirubin of 10-12 mg/dl.
In small ill babies, asphyxiated or
suffering from hyaline membrane
disease and where exchange
transfusion is contraindicated.
Phenobarbitone can be used
prophylactically where severe
jaundice is anticipated as in Rh
and ABO hemolytic disease,
large cephalhematoma and G6PD deficiency.
Charcoal, agar, cholestyramine
are used to prevent enterohepatic
recirculation of bilirubin from the
gut.
Albumin infusion: It is given half
to one hour before exchange
transfusion to increase bilirubin
binding capacity and reduces risk
of kernicterus. It increases the
effectiveness
of
exchange
transfusion by 50 percent.
Aspiration: If there are any large
hematomas
like
a
cephalhematoma
that
could
possibly contribute to increased
bilirubin levels, this needs to be
aspirated.
Kernicterus:
This is staining of the brain (basal
ganglia, hippocampus and auditory nucleus)
by bilirubin- depending on extent of
hyperbilirubinemia, gestational maturity and
integrity of the blood brain barrier.
Unconjugated bilirubin is lipid soluble and
can cross into the brain through the bloodbrain barrier causing brain damage.
Premature infants get brain damaged at a
lower bilirubin level than the mature as a
result of less competent blood brain barrier.
Albumin binds bilirubin and therefore
adequate albumin keeps bilirubin low. One
gram of albumin can bind 8.5 mg of
bilirubin. Thus, if albumin levels are low free
bilirubin increases and damages the brain.
Such kernicteric babies can develop
athetoid movements, stiffness and deafness
and can remain handicapped for life. This
fact underscores the importance of
preventing pathological hyperbilirubinemia.
When serum bilirubin levels are
nearing 18 mg/dl in healthy, term
babies Serum bilirubin should fall
at the rate of 2mg each 24 hours.
Exchange blood transfusion: (For
technique,
see
section
on
procedures). This is given when
indirect serum bilirubin nears 20
mg/dl or the bilirubin to protein
ratio exceeds 3:5. Exchange is
the most effective way to bring
down the bilirubin values. It is
the rate of bilirubin rise rather
than the value of 20 mg/dl. In
fact phototherapy should be
started as values of 15 mg/dl
approach
before
exchange
transfusion is given.
139
II. Respiratory distress
l
This can be caused by a large number
of conditions mainly respiratory, but also
cardiac, nervous system and metabolic
disorders affecting respiration directly or
indirectly. This symptom complex is
clinically suspected when the following
occur severally or jointly
l
l
l
l
l
l
In 1-2 weeks:
l
l
l
Respiratory rate is more than 60/mt
Inercostal recession during inspiration
Expiratory grunt
Cyanosis
Diminished activity,
feeding difficulty
alertness
and
l
Air entry into the lungs on auscultation
is diminished or absent.
l
l
l
l
l
l
l
l
Bronchopulmonary dysplasia
l
Inherited
metabolic
conditions
including organic acidemias, present at
any stage during neonatal period,
(acidotic breathing)
Cardiac failure at any stage resulting
from anemia, polycythemia etc.
The important conditions are briefly
described here. For details, the reader is
referred to a textbook on neonatology
Congenital choanal atresia causing
obstruction of air entering the lungs
also
A. Conditions with onset at birth:
Massive aspiration syndrome is due to
aspiration of meconium into the lungs as a
result of passage of meconium by fetus and
inspiratory movements of the fetal lungs in
response to oxygen lack. Meconium may be
seen in the mouth or pharynx. Apnea is
followed by marked respiratory distress.
Bronchial obstruction results in collapse or
emphysema of lung segments Diagnosis can
be made with an X-ray of the chest.
In the larynx: web stenosis, tumor,
vascular ring pressing larynx.
Pulmonary agenesis
Pleural effusion
Birth asphyxia
Hyaline membrane disease (HMD)
about 6 hours after birth.
In 1-2 days after birth:
l
Neurological
disorders:
causing
paralysis of respiratory muscles such
as Werdnig Hoffmann (generalized
hypotonia, resulting in a 'floppy'
baby), myasthenia gravis, GuillainBarre syndrome, etc.
l
l
Aspiration before or at birth
Pierre
Robin
syndrome
obstructing air passage
Pulmonary hemorrhage
Other conditions:
At birth:
l
Aspiration after birth
In 2-3 weeks:
The main causes arranged according
to time of onset after birth are as under:
l
Diaphragmatic paralysis from nerve
injury
Treatment
consists
of
clearing
meconium
from
the
mouth
and
laryngoscopic suction. Careful nursing,
observation and treating infection with
antibiotics are the essentials of treatment.
The most likely organisms are likely to be
gram negative.
Pneumonia acquired before birth
Pneumothorax
Transient tachypnea of the newborn
(TTN)
Esophageal atresia, tracheoesophagial
fistula
140
A number of obstructive congenital
lesions of the upper air passage result in
respiratory distress on account of restricting
air entry into the lungs. Examples are
posterior choanal atresia (atresia of both
posterior choanae). A baby is unable to
breathe from the mouth and hence
respiratory distress. Other obstructive lesions
are Pierre-Robin syndrome, vascular ring
pressing on the larynx, laryngeal webs or
stenosis etc.
in the amniotic fluid. Surfactant in a small
amount is secreted by the fetus in to the
amniotic fluid from the pharynx and this
enables the LS ratio to be determined in the
amniotic fluid. A ratio of 2 or more is
indicative of normal lung maturity but a
ratio of less than 1.5 suggests HMD. The
gastric shake test: Take 0.5% of normal
saline and add to 1 ml of ethyl alcohol
(95%) in a test tube and to this add 0.5 ml
of baby's gastric aspirate. Shake vigorously
for 15 seconds and stand for 15 minutes.
Look for bubbles or froth on the surface of
the test tube. Normally the bubbles or froth
should cover more than two third of the
surface. If it is a third or less it is highly
indicative of HMD. Discard the test if gastric
aspirate is contaminated with meconium or
blood. X-ray chest in HMD shows a uniform
dull white appearance on both sides in an
advanced case.
Pulmonary
agenesis
(congenital)
associated
with
oligohydramnios,
diaphragmatic hernia and dysmorphic
facies.
Pleural effusion as part of generalized
edema- hydrops.
Neurological disorders as a result of
trauma at birth caused by breech deliverysuch as diaphragmatic hernia. Birth
asphyxia can result in brain damage and
difficulty in swallowing.
Management consists of effective
supply of oxygen and prevention or
correction of acidosis. This can be done by
IV drip from umbilicus-7.5% soda bicarb
solution, half diluted with glucose saline in a
dose of 5-8 mEq/kg every 24 hours. No
stomach feeding is given until respiratory
rate is below 60/mt and bowel sounds are
heard. Monitor ABG (acid base gases).
Oxygen should be continued and increased
if required, till cyanosis disappears. Reduce
oxygen concentration by 10% every hour till
infant is receiving less than 40%. Warmth
and humidity need to be maintained.
Indications for assisted ventilation are:
Hyaline Membrane Disease (HMD):
Commonly seen in immature infants, those
born by Caesarean section or in diabetic
mothers. The symptoms are rapid breathing
from birth, cyanosis, marked inspiratory
indrawing of the sternum and intercostal
muscles, and expiratory grunt. Breathing
gets worse in 48 hours with increasing heart
rate. As the inefficient ventilation and
perfusion continue, CO2 accumulates, PaO 2
drops and acidosis sets in. The cause is lack
of surfactant - a surface-active material
(saturated
lecithin
and
phosphatidyl
glycerol). Surfactant is normally responsible
for reducing surface tension within the
alveoli keeping it stable by preventing
collapse of alveoli at the end of expiration.
The deficiency of this material results in
alveolar collapse and the resultant changes
described.
If cyanosis is not relieved by giving
oxygen at more than 60%
PaO2 fails to rise above 40 mm Hg
PaCO2 remains above 80mm Hg
Note: Oxygen concentration between
25 and 40% for more than 3 days causes
ROP (retinopathy of prematurity).
Diagnosis is made by determining the
ratio of Lecithin to Sphingomyelin (LS ratio)
141
the air under tension to blow out through an
underwater seal.
Vitamin E has been recommended to
prevent ROP. Indomethacin may be required
to close the Patent ductus which may open
up as a complication of Respiratory distress
syndrome, including HMD
Transient tachypnea of the newborn (TTN):
A well looking baby with a heart rate
of about 80-120, develops mild retraction
but improves in the next 2-3 days. Chest X
ray is normal and no treatment is required.
Surfactant therapy (available as
Survanta) is provided by instilling it with the
catheter through the endotracheal tube and
aerosolizing the solution by bagging with
100% oxygen. The dose instilled is @ 4 ml/
kg body weight (divided into 4 parts).
Bagging ensures its spread into all lobes of
each lung. It can also be given through the
ventilator circuit.
Esphagial atresia/tracheoesophageal fistula:
When the upper segment of the atretic
esophagus is blind, (See Fig. 37 p. 181) the
saliva and oral feed given soon after birth
may spill over into the respiratory passages
causing choking and aspiration. Also if the
upper segment is connected to the bronchus
(fistulous connection), aspiration will occur
with resultant signs and symptoms. The
condition is associated with polyhydramnios
and single umbilical artery. Early diagnosis,
is possible within hours, from a history of
choking after each feed, with distress from
aspiration. Diagnosis is confirmed by
passing a catheter into the esophagus which
fails to go further down or coil up. By
introducing a few drops of dye (iodine
containing) through the catheter, holding up
of the dye can be demonstrated at the upper
segment or in the case of TO fistula, dye
can be seen entering the main bronchus..
Life saving treatment is surgical and
immediate.
B. Conditions with onset within 1-2
days:
Intrauterine pneumonia:
Predisposed by: prolonged labor,
premature rupture of membranes, foul
smelling liquor, febrile maternal illness
during labor, poor vaginal hygiene. The
baby seems unwell, has tachypnea or
respiratory distress within 12-48 hours. X
ray shows pneumonitis shadow. Gastric
aspirate showing more than 5 cells per high
power field is highly suggestive. Treat with
antibiotics.
Pneumothorax:
A baby, previously well or having
respiratory distress from some cause
suddenly develops symptoms. Examination
reveals: inflated chest on the side, hyper
resonant note on percussion, impaired air
entry and displacement of heart and
mediastinum to the opposite side. In view of
the small chest of the newborn baby these
findings may not be obvious but X ray chest
gives the diagnosis-air in the pleural cavity,
varying pulmonary collapse. Management in
asymptomatic babies is careful watch but no
immediate treatment. However a tension
Pneumothorax is treated by placing a needle
or catheter in the pleural cavity and letting
Diaphragmatic paralysis:
This can occur from nerve injury in a
breech delivery and may be associated with
evidence of injuries like Erb's paralysis of
the brachial plexus.
C. Conditions with onset in the first
one or two weeks:
Postnatal
Pneumonia
following
aspiration or a systemic illness after birth.
Usually
results
from
poor
nursing
management or feeding especially in babies
with congenital defects like cleft palate,
142
large tongue, tumor or esophageal atresia,
resulting in aspiration and pneumonitis.
the heart and circulation is the smooth
transition from the fetal circulation to
postnatal circulation and proper aeration in
the lungs. This becomes possible as a result
of separation of the pulmonary and systemic
circulation. If separation of the two
circulations does not occur as in certain
disorders, they result in the mixing of
arterial or venous blood affecting survival or
quality of life, depending upon severity and
time of onset (earlier the onset of symptoms
more serious is the disease). These disorders
may have one of three fates:
Massive
pulmonary
hemorrhage:
Suspected if a baby with respiratory distress
brings up frothy blood from nose or mouth.
Commonly seen in infants with HMD,
intrauterine growth retardation (IUGR),
diabetic mothers and hemolytic disease of
the newborn. Treatment: blood transfusion
and ventilatory support. The condition is
serious.
Neurological
disorders
essentially
resulting
from
hereditary/congenital
conditions: Werdnig Hoffmann disease,
myasthenia
gravis,
Guillain
Barre
Syndrome, congenital polio.
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D.Conditions with later onset in the
neonatal period:
Bronchopulmonary dysplasia (BPD):
Premature babies, who have recovered from
RDS as a result of prolonged assisted
ventilation, develop a chronic fibrotic
disorder of the lung termed Broncho
Pulmonary Dysplasia (BPD). Its prognosis in
terms of long term morbidity is poor.
Treatment includes adequate temperature
control, humidity, nutritional care/TPN,
oxygen, antibiotics and corticosteroids.
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May be incompatible with life and
result in fetal death;
Others are serious and cause
symptoms at or soon after birth.
Treatment is surgical and required
immediately to save life
Yet others do not present with any
symptoms
until
the
defect
is
discovered at a routine examination,
such as a heart murmur. They too
need to be investigated and treated in
due course as per the nature and
severity of defect found
Curative treatment is therefore surgical
at a specialized cardiology center, but until
that is made possible, medical care can be
given
as
a
holding
phase
while
investigations are carried out for a precise
anatomic cause.
E. Conditions that may occur at a
varying time after birth:
Certain conditions may appear any
time during the later half of the neonatal
period, such as neuroblastoma (and other
tumors), cardiac failure as a result of
anemia, rubella syndrome and certain
metabolic and familial disorders that largely
include organic acidemias. These acidemias
present
with
hyperammonemia,
hypoglycemia and convulsions.
Cyanosis is an important symptom
and can be recognized by blue lips, tongue
mucous membrane and nails. Oxygen
administration does not relieve the cyanosis
due to heart disease. The other sign present
is breathlessness or fast rate of breathing
(tachypnea). If cardiac failure is present,
four cardinal signs should be looked for viz.
tachycardia, tachypnea, cardiomegaly and
hepatomegaly. Some children present
without cyanosis and are grouped into
acyanotic congenital heart disease. They
III. Cyanosis
Cyanotic Congenital heart disease:
Essential to the proper functioning of
143
may or may not have breathlessness. Long
systolic murmurs at the base of the heart left
of the sternum can be heard. The heart may
be enlarged and this can be detected
clinically or by X-ray of the chest.
X-ray chest and ECG congenital heart
disease can be diagnosed within two major
groups Acyanotic and cyanotic.
(For details of congenital heart disease
see section 4 chapter 24. Here only cyanotic
CHD will be discussed in brief)
With the help of clinical examination,
CYANOTIC GROUP
Pulmonary blood
flow (X ray)
ECG
Possible diagnosis
Decreased
RVH
1. Fallot's
Tetrology
LVH
1.Tricuspid
Atresia
Abbreviations used in the above tables:
Increased
LVH or combined
1 Truncus
Arteriosus
2. Hypoplastic
Pul. Artery
3. TGA& PS
RVH: Right Ventricular Hypertrophy
CVH: Combined Ventricular Hypertrophy
TAPR: Total Anomalous Pulmonary Venous Return
LVH or combined
1. TGA+VSD
2. Single ventricle
3.Truncus Art
LVH: Left Ventricular Hypertrophy
TGA: Transposition of the Great Arteries
ASD: Atrial Septal Defect
VSD: Ventricular Septal Defect
pulmonary artery stenosis, aorta
overriding the septal defect and
enlargement of the right ventricle.
There is a right to left shunt through
this defect. In view of the pulmonary
artery stenosis, blood flow to the lung
is small. Cyanosis and exercise
limitation occur from the large arteriovenous shunt. Larger the shunt worse
the disability. Cyanosis, growth failure
and clubbing of fingers are present.
Clinically, there is a right ventricular
heave along the left sternal margin and
a loud, harsh, ejection systolic murmur
most marked in the left third
interspace. Squatting position provides
some ease - such children are often
seen to squat after a little exertion.
Urgent, emergency management may
be required in one of the 'cyanotic
spells' thus: Child is put into 'knee-
Cyanosis can be caused by conditions
other than those of the heart. These include
pulmonary conditions such as: Hyaline
membrane
disease,
tracheoesophageal
fistula, Choanal atresia. Neurological
conditions such as Sepsis and meningitis.
Infant of diabetic mother (large plump
plethoric faced infant). Cyanosis can be
caused by Methemoglobinemia where an
infant is healthy looking but cyanosed
because of an abnormal hemoglobin,
methemoglobin. Diagnosis is made by IV
injection of vitamin C which immediately
relieves the cyanosis. Spectroscopy of blood
confirms the diagnosis.
Common Cyanotic congenital heart
disorders
1.
RVH
1. TAPR
2. Hypo
plastic
Lt.Heart
3. TGA
Tetrology of Fallot (TOF): This is
the commonest cyanotic congenital
heart defect. It comprises large VSD,
144
2.
chest position' and given Morphine
injection (at 0.2 mg/ kg) and if there is
prolongation, acidosis is controlled
with 7.5% of Soda bicarb given IV.
Propranalol may be required, initially
IV followed by oral administration.
Treatment in certain situations is
anastomosis between aorta and
pulmonary
artery
(usually
left
subclavian artery with pulmonary
artery- Blalock Tausig shunt) but
eventually total surgical correction is
required.
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Transposition of great arteries
(TGA): There are two separate
circuits-systemic venous blood enters
the right atrium and then pumped by
right ventricle and return to the right
atrium and the other circuit is left heart
pumps blood to the lungs which
returns to the left side of the heart.
There is no mixing of the two circuits
unless there is a shunt. Cyanosis from
birth is severe. Balloon opening of the
foramen ovale enables mixing of the
two circuits to allow oxygenation of
the blood.
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Oxygen by incubator or plastic hood.
Feeding: Avoid oral feeding. Provide
minimal fluid requirements I V as one
fourth strength, normal saline in 5%
glucose
Sedation: Phenobarbitone (Gardinal),
8 mg /kg /day IM
Diuretics: Frusemide 3 mg/kg / day IM
Antibiotics: For pulmonary infection.
Partial exchange with packed red cells
if hemoglobin is below 10 gms
V. Fever in the newborn:
(Infections)
Fever results largely from infections
but in the newborn an infection may not
always present with fever. Infections have
therefore, been included here under the
symptom of fever because most infections in
most babies do result in fever.
Dehydration
fever: A healthy
newborn, otherwise active and alert, may
develop fever on second or third day,
usually during summer and as a result of
inadequate intake of milk (transient
physiologic inadequacy of lactation in the
mother). The infant is managed by avoiding
heat and use of loose and light cotton
clothes. No specific treatment is needed.
IV. Cardiac failure
This can complicate a number of
conditions including congenital heart
disease. In babies it is recognized by history
of breathlessness on crying and long time
taken to breast feed often associated with
sweating of the head. The four cardinal
signs of cardiac failure in babies are
tachypnea, tachycardia, cardiomegaly and
hepatomegaly. The management in brief is:
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outpatients digitalization can be done
by following the maintenance dose
which takes about a week to digitalise
effectively.
Infections: A newborn is prone to
infections before, during and after birth.
Colonization of gut, skin and umbilicus
occurs from contact with microorganisms
immediately
after
birth.
Defense
mechanisms are poor and reaction to
infection is not as marked as in older
children and adults. A mere change in
behavior, refusal to feed or lethargy may
point to infection. These early signs should
Digitalis. Oral dose is 0.06 mg/kg and
parenteral 0.04 mg/kg. This digitalizing
dose is given in four divided doses in
24 hours, i.e. six hourly. For
maintenance a quarter of the total
digitalising dose is given twice a day
(1/8 morning and evening). For
145
stump. The umbilicus and base of the cord
are cleaned with methylated spirit swab. For
treat- ment of mild local infection neomycin
and bacitracin powder are sprinkled after
cleaning with alcohol or methylated spirit.
For more severe and systemic spread,
parenteral antibiotics are used.
be enough to arouse suspicion and initiate
action to diagnose and treat promptly as
infections become serious and generalized
very rapidly. An alert nurse will always be
the first to pick up a baby developing
infection. A suspicion of infection is aroused
in the following:
Maternal factors
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Prolonged rupture
before delivery
of
Conjunctivitis: If the eyes are sticky
but there is no purulent discharge, during
the first two to three days, the eyes are
washed with saline soaked sterile swabs and
10% Sulphacetamide eye drops are instilled.
This is usually non infective.
membranes
Duration of labor longer than 24 hours
Foul smelling liquor
History
of
examinations
frequent
Gonococcal ophthalmia is prevented
by instillation of 1% silver nitrate into both
eyes at birth.
vaginal
Mother with febrile illness before or
during delivery
If after 24 hours after birth there is
mucopurulent discharge, congestion of
conjunctival vessels with or without
palpebral edema, particularly if prophylactic
silver nitrate drops have not been put into
the eyes at birth, it is indicative of infection
usually from Staphylococci, Pneumococci, E
coli
or
the
dangerous
Gonococci
(Gonococcal ophthalmia) The latter should
be identified by smear and culture
examination. The treatment of such
infection is: irrigation of the eyes four
hourly, daily with saline, followed by 0.3 %
Gentamycin eye drops, three hourly, until
discharge is reduced and then less
frequently. In the event of isolation of
Gonococci or orbital cellulitis, parenteral
Penicillin is given and local Penicillin drops
are instilled one hourly for two weeks.
Surgical intervention during labor
Infant factors
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Infants of low birth weight
Resuscitation at birth
Intubation, instrumentation
Umbilical catheterization
Presence of infected babies in the
nursery
Infection in the newborn are described
under three heads:
I.
Superficial
III.
Transplacental - from mother to
baby.
II.
Generalized (Systemic)
A. Superficial infections:
Skin Infections. Skin sepsis can
appear in the form of small, yellow pimples
or small blisters surrounded by redness
usually in the covered moist areas like the
armpit and groins, or elsewhere. A few of
the lesions can be punctured and sent for
Gram staining for smear, culture and
antibiotic sensitivity. Application of 1%
Gentian violet is effective for the punctured
Umbilical Sepsis: Umbilicus is
colonized early, usually with staphylococci.
Purulent discharge, redness and edema
occur. Infection may spread to liver through
the umbilical vessels and result in portal and
then generalized septicemia. Spread from
umbilicus can be prevented by routine
application of triple dye to the umbilical
146
lesions. Baths should be given with savlon
or dettol added to the water. If the lesions
multiply
and
become
confluent,
Erythromycin @ 50 mg/kg should be given
for about a week.
ray chest, other areas as required; blood
sugar, serum bilirubin, calcium, urea,
electrolytes;
gastric
aspirate.
(Smear
showing more than 40% of the cells as
polymorphs suggestive of. Pneumonia)
Pemphigus neonatorum is another
coccal (staphylo- or streptococcal) skin
infection that can occur in the newborn. It
presents as large, loose blisters that contain
serous, yellow or blood stained fluid.
Blisters
rupture
leaving
raw
areas.
Septicemia is a serious complication.
In view of the threatening nature of
systemic infection appropriate antibiotics
parenterally should be administered in
adequate dosage and for sufficient time to
eradicate the infection. Choice of antibiotic
regimes depends on the nature of infection,
known prevalence of organisms in the
particular area (peripheral rural or urban
hospital/ health center), resistance pattern
organisms and the system involved (such as
meningitis, pyelonephritis septicemia etc.).
Gram negative infections cause almost half
of all serious infections especially those
associated with prolonged, dry labor,
aspiration, jaundice, urinary infection and
meningitis. Skin or umbilical sepsis usually
follow staphylococcal infection and may
result in military lung abscesses or
osteomyelitis.
Streptococci
B
cause
septicemia or meningitis.
Oral infection results commonly from
moniliasis (candida albicans) and presents
as 'oral thrush'. The lesions appear as white
spots or flakes over the tongue and buccal
mucous membrane. Contamination occurs
from mother's hands, breasts, spoons and
teats. Fever may not be present but babies
may refuse feeds. Thrush may also occur as
a napkin rash. Treatment of oral thrush is
Nystatin 100,000 units applied locally, four
times daily. If not available, gentian violet
1% is applied.
B. Generalized, (systemic) Infections
Choice of antibiotics until organism is
known:
These infections are serious and need
to be diagnosed and treated promptly.
Unfortunately, no specific clinical features
directly pointing to infection may be
noticed. Symptoms may relate to any
system and infection is suspected first by the
mother or an alert nurse who have been
watching the baby's feeding and behavior.
Any change in color, feeding, behavior or
abnormal activity, temperature fluctuation/
drop should arouse suspicion and lead to a
careful
physical
examination
and
investigations in an attempt to determine
the location nature and source of infection.
No time should be lost in instituting prompt
treatment. Laboratory investigation include:
Urine, CSF, fluid from any discharging site;
culture of blood, urine, swab from any
suspicious lesion; complete blood count, X
Infection in first 72 hours: A
combination
of
Penicillin
(for
b
Streptococcal)
and
Kanamycin
or
Gentamicin (for gram negative organisms)
After 72 hours: Cloxacillin and
Kanamycin and Gentamicin (for gram
negative and positive organisms respectively).
Modify after lab results are available.
If sepsis not confirmed continue this
regime for about a week
If septicemia is confirmed:
Gram negative organisms- treat for 2-3
weeks
Staphylococcal infection- treat for 4
weeks
147
After all bacterial cultures are negative
and baby is asymptomatic treat for 5-7 days
more.
possibilities. Local swelling may be present
in a joint or over a bone. The source of
infection may be sepsis. Staphylococcus
aureus is the most frequent cause. Treatment
recommended is therefore, Methicillin or
Cloxacillin and antibiotics effective against
this organism.
In addition to antibiotic therapy other
measures include: keeping child warm,
maintaining fluid and calorie requirement,
maintaining electrolyte and blood sugar
levels, treatment of shock or anemia with
blood transfusion, oxygen as required and
other nursing measures called for.
Tetanus neonatorum: (Also see
p 85) Although eradicated in developed
countries, cases still occur in India among
the rural poor. Contamination of the cord as
a result of certain local applications used
traditionally is still prevalent. Prevention
must be ensured by immunizing the mother
antenatally against Tetanus and education
regarding use of sterile dressing of the cord
at birth. These two measures have brought
down the incidence of this usually fatal
illness remarkably. Diagnosis is made by the
observation of the early sign of difficulty in
suckling, (trismus) increasing difficult as a
result of stiffness of muscles followed by
appearance of generalized stiffness and
severe spasms on mere touch which get
increasingly worse, with neck retraction, and
finally laryngeal spasms difficulty of
breathing and death. Treatment is essentially
careful nursing, minimum handling and
heavy
sedation
with
Diazepam
or
Paraldehyde. If timely help is available and
the baby can be shifted to a tertiary center,
ventilatory care (IPP Ventilation) should be
given. Antibiotics may be required and
immune serum (Tetanus immunoglobulin)
given If not available Antitetanic serum 10 to
30 thousand is given after sensitivity test.
Apneic attacks are treated by endotracheal
intubation, oxygen and Ambu bag for
inflating lungs until ventilatory care becomes
available.
Pneumonia: Clinical signs may be
absent or referable to the respiratory system.
Fever may be accompanied by cough,
tachypnea, attacks of apnea and cyanosis. X
ray of the chest confirms. The treatment is
the same as for septicemia given above.
Pyogenic meningitis: The baby may
have no signs. Suspicion is aroused from
persistent irritability, crying or the baby may
present with seizures. LP should be done in
suspected cases. Unfortunately infection is
already established by the diagnosis is made.
The outcome is therefore serious unless
diagnosis is picked up early. The treatment is
I.V and a combination of Amikacin and
Ceftazidime is considered most effective.
Treatment is continued until 5-7 days after
clinical recovery is complete,, CSF is sterile
on culture and CSF Sugar is normal. Total
duration of treatment may be upto 3 weeks.
Urinary
tract
infection
(pyelonephritis): When a baby fails to
gain expected weight or has any general
symptoms like fever or is off feeds, urine
must be examined. Possibility of a
congenital anomaly of the urinary tract
should be entertained particularly if the
infection recurs. Since E coli are the most
common cause, treatment must include
appropriate antibiotics effective against
Gram negative bacilli.
Osteomyelitis: Pain in a limb, crying
during change of diapers or at bath and
inability to move a limb should arouse
suspicion of bone involvement among other
C. Transplacental infections.
Prominent among these infections is
the 'TORCH' group, each letter indicating
148
the infecting organism as under:
T:
O:
R:
C:
H:
epilepsy, poor vision or intracranial
calcification.
Treatment
is
with
Pyramethamine
and
sulphadiazine
alternating with spiramycin.
Toxoplasma
'Others' including Gonococcal
eye
infection;
Syphilis;
Tuberculosis,
Hepatitis
B,
Coxakie B, Varicella, Malaria,
Echo, Parvovirus B 19, HIV
Rubella
Cytomegalovirus
Herpes simplex
Rubella: (Also see p 83) This virus has
a devastating effect on the growing fetus if
the mother has been infected in the first
trimester of pregnancy. The baby may be
born with cataracts, deafness, congenital
heart disease, mental retardation and
damage of the central nervous system. A
mother exposed to rubella in the first
trimester of pregnancy should have her
pregnancy terminated unless she has had
rubella previously. For prevention, all girls
should have rubella vaccination routinely.
Clinical features of these infections
may present in various combinations of the
following:
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Eye:
Chorioretinitis,
retinal
pigmentation,
keratoconjunctivitis,
cataracts,
glaucoma
and
visual
impairment.
Cytomegalovirus (CMV): (Also see
p 94) Most babies are asymptomatic at birth
but some may develop neurological defects
later. Occasional baby may present
jaundice,
hepato-splenomegaly
and
purpuric spots. These babies may develop
microcephaly. To prevent the risk of
transmission to the baby if the mother has
developed CMV in the last trimester of
pregnancy, CMV specific immunoglobulin is
injected to the infant slowly during delivery.
Indications for specific treatment are illdefined but Ganciclovir is given in CMV
pneumonia and in some specific situations.
CNS:
Encephalitis,
microcephaly,
hydrocephalus,
intracranial
calcification, psychomotor retardation
and hearing loss.
CVS: Myocarditis, congenital heart
disease.
Reticuloendothelial
Hepatosplenomegaly,
calcification,
jaundice,
anemia, petechiae.
system:
liver
hemolytic
Lungs: Pneumonitis
Bone lesions
Vesicular (skin) lesions
Gestational:
retardation.
Intrauterine
Herpes simplex (HSV): Genital herpes
in the mother is transmitted to the baby
during labor and hence delivery is carried
out by an elective caesarian section.
Transmission
is
transplacental
also.
Treatment is with Acyclovir. (Also see p 93)
growth
Salient clinical features of the 'TORCH'
group of infections and others that are
transmitted placentally are as under:
Tuberculosis: A baby is infected from
maternal bacillemia from a tuberculous
mother and transmission occurs through
umbilical vein or by aspiration of amniotic
fluid during birth. Placenta is affected. Baby
may be asymptomatic for varying periods of
time upto eight weeks and presents with
liver enlargement, involvement of lymph
Toxoplasmosis: (Also see p 98) Occurs
in the baby if mother infected between
second and sixth months of pregnancy.
Infants may be premature; may have early
jaundice appearing on the first or second
day; hepatosplenomegaly; purpuric spots;
choreoretinitis. Surviving infant may have
149
VI. Pallor/anemia in the newborn
nodes in the porta hepatis and miliary
tuberculosis of the lungs. Congenital
tuberculosis is uncommon. The treatment is
as usual, with antitubercular drugs-INH,
rifampicin and pyrazinamide.Infection with
HIV at the same time is a real threat and
should be looked for and managed.
In the term baby, cord blood
hemoglobin is 14-18 gm/dl and hematocrit
50 to 55% at birth. Hemoglobin values rise
by 1 to 2 gm/dl in the first 48 hours.
Thereafter slow reduction occurs till 8 weeks
of life. A fall below 12 gm/dl in the first two
weeks or below 10 gm/dl between 2 weeks
and 2 months is sinister and the cause
should be looked for. The hemoglobin level
at birth is unrelated to maternal hemoglobin
content or her nutritional status. However if
maternal iron stores are low, the baby too
may have poor iron stores leading to later
('physiologic') anemia in the newborn.
Anemia during the first few weeks after birth
results mostly from hemolytic causes.
Hemorrhage and infection are less frequent
causes. Hypoplastic anemias, when they do
occur are late to appear, usually not before
the first month.
HIV: (Also see p 96) The risk of
transmission of HIV infection from mother to
the baby is 25 percent. It can occur in utero,
during labor and from breast milk. Baby may
be asymptomatic at birth and symptoms may
appear after four months to two years. When
symptoms are present they include a large
and varying spectrum involving several
systems affecting lymph nodes, liver,
gastrointestinal
tract,
lungs,
growth
retardation- both neuromotor and physical.
Congenital syphilis: Mothers may have
been infected within five years before birth
of the baby. Severity of symptoms varies
greatly from death in a few days to late
appearance of symptoms. Early symptoms
include a mucopurulent nasal discharge
(snuffles), a 'saddle nose' as a result of
destruction of the nasal symptom, a copper
colored facial and body skin rash, swelling
of hands and feet. Mucocutaneous lesions
may appear over any mucocutaneous
junction such as lips, anus etc.; moist, flat
plaques over anus and vulva leave behind
radiating scars. Lesions at the end of the
long bones cause severe pain with
movement and therefore inability to move a
limb. Upper central incisors and lower
permanent molars are widely spaced and
narrow.
Hepatosplenomegaly
may
accompany jaundice or anemia. Late
symptoms include interstitial keratitis, after
five years, with photophobia, painful and
watery eyes.Gummata appear anywhere.
Knee joints may have painless effusion.
Diagnosis is made clinically and by serum
studies and X rays of bones. Treatment is
with a single dose of Benzathine Penicillin.
The table on p 151 gives the causes of
anemia and the conditions responsible at
different ages of onset after birth.
Diagnosis is made from:
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150
Accurate maternal history of blood
group, sepsis, malaria, TORCH
infection, hereditary disease, damage to
placenta e.g. inadvertent incision during
cesarean delivery, premature delivery.
Clinical examination for severity of
anemia, visible source of bleeding,
sepsis if any, examination of the cord
stump hepatomegaly or splenomegaly,
petechial hemorrhages, jaundice, any
hematoma.
Evidence of anemia, its severity,
nature (hemolytic or other), source of
bleeding, study of peripheral blood,
reticulocyte count, serum bilirubin,
occult blood in stool, coomb's test,
G6PD
Deficiency,
urine
for
pyelonephritis.
Table showing causes of anemia at birth
Age
Causes
Within hours
Hemorrhage
Within a few days
Infection:
Hemolysis
Hemorrhage
At birth
After 3 weeks
Hemolysis
Hemorrhage
Infection
Hemorrhage
Hemolysis
1-3 months
Hypoplastic
anemia
Anemia of
prematurity
Clinical conditions
ABO or Rh hemolytic disease in newborn
Acute: Placenta previa, velamentous insertion of cord, incision into
placenta (during cesarean section) Chronic: fetomaternal bleeding
From cord stump
Hemorrhagic disease of the newborn
Sepsis, malaria. TORCH complex
G6PD Deficiency
Into the liver, brain, kidney or adrenals
Pyelonephritis,congenital toxoplasmosis, neonatal hepatitis
Bleed from Meckel's diverticulum, duplication of bowel
(occult blood in stool)
Slow (late) onset Rh hemolytic disease, Hereditary
spherocytosis
This is rare.Reticulocytes are missing or low, red cells are
normochromic , normocytic
Appears after 4-8 weeks and is due to poor iron stores from
mother due to shorter gestation.
Treatment:
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through feto-maternal bleeding, bleeding
from the fetal side of the placenta, feto-fetal
in twins and treatment with anticoagulants
to the mother. Bleeding after birth can be
external (at site visible on inspection) or
internal, i.e. invisible, into viscera, such as
brain, liver, kidney, gut etc.
If bleeding is recent and acute:
Replace estimated volume of blood
lost
If chronic and slow and hemoglobin <
7 gm/dl, top up to 10 gm/dl
In the event of feto-maternal loss, i.e.,
if bleeding occurs into maternal
circulation and the loss is severe or
chronic, threatening failure of the fetal
heart, an exchange blood transfusion
is required. Iron from the age of 6
weeks.
Whether bleeding is external or
internal, the causes are mainly coagulation
defects and/or platelet defects, either
acquired or hereditary. A brief list of some
of the prominent disorders is given here. For
details readers are referred to larger
textbooks of Pediatrics.
Treatment with appropriate antibiotic
for
infection;
Sulphonamide/
pyrimethamine for toxoplasmosis.
Coagulation defects
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For drug induced hemolysis in G6PD
deficiency, stop the offending drug,
blood transfusion as required.
Vitamin K for hemorrhagic disease of
the newborn.
VII. Bleeding in the newborn:
Bleeding
can
occur
before
birth
l
151
Acquired at birth (non hereditary):
Hemorrhagic disease of the new born,
liver damage as in hepatitis, severe Rh
incompatibility, maternal medication
with anticoagulants and other drugs
that induce vitamin K deficiency in the
baby (coumarin, barbiturates, INH and
rifampicin)
Hereditary:
Hemophilia,
Christmas
disease, von Willebrand's
Afibrinogenemia
disease,
(rifampicin, INH) severe hemorrhages can
occur internally and externally. The diagnosis
of HDN is made by a combination of normal
platelet count, increased Prothrombin time
and PTT. By way of prevention some centers
recommend injection vitamin K 0.5 -1.0 mg
IM in all normal, healthy newborns. Others
do not recommend this routinely but in
specific situations only. Blood swallowed by
the newborn during birth can cause change
in stool color and suspicion of hemorrhage,
but his can be confirmed by a simple bedside
test-(Apt and Downey) performed on the
stool distinguishing maternal from baby's
blood.
Platelet defects:
Acquired at birth (non hereditary):
Transfer of platelet antibodies to the fetus
through placenta that destroy fetal platelets;
bone marrow depression of megakaryocytes
as a result of infection, sepsis etc platelet
incompatibility between mother and baby
(platelet isoimmunization)
Hereditary disorders: Wiskott Aldrich
syndrome.
Combined and other defects:
Disseminated
coagulation (DIC Syndrome)
intravascular
VIII. Edema/swelling
Swelling in a newborn can be
generalized or local. The swelling may result
from fluid retention in the tissues and
appear as pitting edema or it can appear as
lymphatic edema which is nonpitting.
Conditions are only listed below. For details
readers can refer to larger textbooks.
Local bleeding from cord, presenting
part during delivery, cephalhematoma,
subconjunctival, retinal etc.
Hemorrhagic Disease of the Newborn
(HDN)
A specific condition in the newborn that
needs to be described here briefly. Vitamin K
is needed for synthesis of Prothrombin
(Factor II), and other coagulation factors (VII,
IX and X) so that its deficiency is often
responsible for severe bleeding. Vitamin K is
stored in the liver but is in comparatively
lower concentration than in the adult. The
deficiency is therefore partly physiologic.
Besides, the gut is not adequately colonized
during the first few days by organisms
responsible for synthesis of vitamin K in the
gut. Additionally, vitamin content of breast
milk is inadequate. All these three factors can
result in inadequate supply and storage of
vitamin K resulting in coagulation factor
deficiency and consequent hemorrhages.
Vitamin K administration can promptly
remedy this deficiency in the usual classical
form of the disease. However, in severe
Vitamin K deficiency in utero resulting from
maternal medication with anticoagulants,
some antiepileptic and antitubercular drugs
Generalized pitting edema is due to
l
l
l
l
Hydrops
fetalis
from
incompatibility and other causes
Rh
Edema of prematurity as a result of the
vulnerability of these infants from low
plasma albumin, increased capillary
permeability,
sluggish
lymphatic
drainage, susceptibility to damage
from hypoxia, hypothermia, acidosis,
hypoglycemia.
Renal and cardiac causes (congenital
nephrotic syndrome, congestive heart
failure from congenital heart disease)
Severe anemia as in alpha thalassemia,
feto maternal, fetofetal bleeding.
Generalized non pitting edema may
appear in:
l
152
Hypothyroidism (cretinism) presents as
early 'myxedema'
Localized
pitting):
l
l
edema
(pitting
and
non
l
Acquired: Cellulitis, abscess, venous
thrombosis, edema of presenting part
(from obliteration of venous return
and
compression
around
the
presenting part).
l
l
Congenital:
Turner's
syndrome,
Noonan' syndrome, Milroy's disease
Apart from these conditions, sclerema
or scleredema appears as a hard swelling
over face and feet that can spread to the
other parts. This is of serious import and
often present in premature babies, in
septicemia and can be fatal if not vigorously
treated.
l
l
IX. Vomiting in the neonate
l
l
normal possetting after a feed
sucking and swallowing difficulties
l
If it is persistent
If however the vomiting has one of the
following features, it indicates organic
disease:
l
l
l
l
l
l
Mass
palpable
on
abdominal
palpation,
indicating
possible
enlargement of the kidney from
hydronephrosis, palpable bladder, etc.
Evidence of disease or infection
elsewhere in the body such as bulging
fontanel
suggesting
intracranial
infection or hemorrhage
Hydramnios in the mother is often
associated with obstructive anomalies
in the infant
In the GI tract:
swallowed amniotic fluid or blood
l
Right to left peristalsis visible over the
abdomen indicating gut obstruction.
Some
important
and
common
conditions that cause vomiting in the
newborn are briefly described:
In the newborn, vomiting can occur as
a result of some common benign condition
or from diseases that range very widely and
call for serious attention. Among the benign
ones are:
l
If the baby does not pass meconium in
the first 24 hours, it might suggest
meconium
ileus,
Hirschsprung's
disease, intestinal obstruction
Contains bile (green). This suggests
obstruction beyond the ampula of
Vater
Is associated with drowsiness, failure
to suck properly, or baby refuses feeds
Abdominal distension indicating lower
gut obstruction
l
Failure to gain weight
Fever
Dehydration
153
Esophageal atresia: Also see Fig. 37
p 181 There is usually a history of
hydramnios in the mother. The infant's
mouth overflows with saliva and baby
chokes and vomits on being fed.
Diagnosis is suspected with the above
symptoms and is confirmed by passing a
catheter which fails to go beyond 10 cm
and coils at the upper end of the
esophagus. A straight X ray can diagnose
the condition and lipiodol is not
required.
Immediate
surgical
intervention is called for to save the baby
and greater the delay less is the chance
for survival. Referral to the surgeon must
occur latest by the second day.
Hirschsprung's
disease:
where
congenital absence of ganglia in a
segment of the intestinal wall causes
paralysis of that segment of the gut
and therefore severe constipation and
often obstruction.
l
l
l
l
l
l
Chalasia cardia is laxity of the
cardioesophageal sphincter. Symptoms
resemble those of atresia of the
esophagus.
l
Metabolic diseases like galactosemia,
phenylketonuria (PKU) adrenocortical
hyperplasia etc.
X. Abdominal distension or masses
Vascular ring: When there is stridor
associated it could point to a vascular
ring around the esophagus and
trachea.
A term, healthy infant appears to have
a biggish 'belly' unlike an older school going
child, because the visceral content of the
abdomen is larger. For example the liver size
is larger proportionately and abdominal
muscle tone is less giving this 'pot belly'
appearance. Distension of abdomen in
abnormal conditions is either due to
pathological
enlargement
of
organs,
commonly kidneys, or due to lower
intestinal obstruction from congenital causes
like atresias or Hirschsprung's disease (See
above). Generalized edema or hydrops may
erroneously give the impression of enlarged
abdomen and the associated ascites may
distend the abdomen. Tumors or cysts
within the abdomen are also responsible for
abdominal masses. Peritonitis as a
complication of perforation of the gut
causes distension. The causes of abdominal
distension are listed below. For details,
interested readers can refer to standard
reference textbooks of Pediatrics and
Neonatology
Duodenal stenosis causes vomiting
without abdominal distension. If
bilious vomiting occurs, it is suggestive
of obstruction beyond the ampula.
Intestinal atresia clinically presents with
persistent vomiting, which may be
bilious,
abdominal
distension,
constipation and visible peristalsis.
Lower the obstruction greater is the
abdominal distension, higher the
obstruction greater the vomiting.
Atresia is often associated with other
obstructive anomalies like esophageal
atresia and imperforate anus.
Meconium ileus and meconium plug;
when meconium is not passed in the
first 24 hours, meconium ileus should
be suspected. Meconium plug consists
of brown inspissated material that is
passed before normal meconium
Common kidney masses:
Causes elsewhere in the body:
l
Infection from UTI, umbilical sepsis
and meningitis can cause vomiting
l
Brain damage. Vomiting occurs in
intracranial hemorrhage, edema of the
brain and in meningitis. Subdural
hematoma if missed could result in
hydrocephalus. Brain damage from
Kernicterus as a result of marked
hyperbilirubinemia
may
cause
vomiting among other symptoms like
arching of back, spasticity and
convulsions.
l
l
l
l
l
Hydronephrosis
Multi- and poly- cystic kidneys
Adrenal masses are close to the kidney
and appear to be renal
Wilm's tumor
Neuroblastoma
Renal vein thrombosis
Liver masses
l
154
Tumors :Hemangioma,
Hepatoblastoma
l
l
l
Choledochal cyst
Sub capsular hematoma
Hepatomegaly of congestive
failure
l
heart
l
l
Masses in the Pelvic cavity
l
l
l
Masses in the peritoneum
l
l
l
l
l
Teratoma
Neuroblastoma
Hemato- or hydro-calpos
Meconium ileus
peritonitis
Ovarian cyst
Mesenteric cyst
Gut duplication
and
XII. Seizures (convulsions) in the
newborn
Typical convulsions can be recognized
easily but in the new born atypical or
unusual forms of seizures are more often
seen. They may appear as facial grimaces,
chewing or swallowing movements, blinking
eyes, nystagmus, arching of back or brief
limpness. Unless careful observation is
made, these can be missed.
meconium
XI. Drowsiness or lethargy
Jitteriness often seen in babies in
hypoglycemia, hypocalcaemia, cerebral
hyper excitability, maternal drugs etc must
be distinguished from seizures. The
tremulous limbs of a jittery baby can be
stopped by holding the limb while a seizure
cannot be stopped like this.
An abnormal condition must be ruled
out in an excessively drowsy baby. Some of
the reasons for drowsiness may be:
l
l
l
l
Hypernatremia from too concentrated
feeds (hyper electrolytemia)
Meningitis
Metabolic conditions, hypoglycemia,
uremia, acidosis
Hypothyroidism
In an otherwise normal baby lack of
sleep causes drowsiness.
Cold injury
Sedative drugs
Excessive heating with dehydration
and hypernatremia.
The causes of neonatal seizures are:
(Table below)
Day of birth
Common causes
Uncommon causes
First Day
Cerebral anoxia
Hypocalcaemia
Intraventricular hemorrhage
Hypo or hypernatremia
Hypomagnesaemia
Congenital structural CNS abnormalities
Second Day
Cerebral injury
Sepsis & TORCH infections can occur any time
hereafter.
Third Day
Hypoglycemia
Sepsis
Drug withdrawal syndromes (drug taken by mother)
e.g. PyridoxineSepsis & TORCH infections
Fourth to
seventh Day
Sepsis
Meningitis
Tetanus
Tetany
Kernicterus
Sepsis
& TORCH infections
155
To investigate the cause, investigations
are needed: Serum calcium, sodium,
magnesium,
phosphorus,
pH,
blood
glucose, CSF examination on LP, Subdural
tap, scan or MRI as the case may be.
l
Individual seizure is treated as under:
l
l
l
l
l
l
l
l
Cerebral edema resulting from anoxic
brain injury: Dexamethasone 1 mg 12
hourly for 3 or 4 days.
Administer Phenobarbitone at 10-15
mg/kg stat
l
Estimate blood sugar. If below 40 mg,
give glucose 25 to 50 % IV (2 ml/kg)
slowly. If fits continue after a wait of
about 5 minutes:
XIII. Inability to move a limb
Paralysis, pseudo paralysis
Set up an IV line for fluid by drip
Meningitis: IM or IV antibiotics for at
least 3 weeks, based on nature of
suspected infection. Majority are Gram
-ve organisms.
Weakness or inability to move a limb
can be due to:
Give 10% calcium gluconate IV slowly
at 2 mg/kg taking exactly five minutes
taking care to stop the injection if
heart rate slows down. If there is no
response in 2 minutes:
A)
True paralysis.
l
Repeat Phenobarbitone as above or if
seizures do not seize:
B)
Give 0.1 mg IV Diazepam 0.1 mg IV
every 2 minutes slowly (upto a
maximum dose of 1 mg. if you have
access to ventilatory care.
Tetany: If serum calcium is below
7 mg/dl give calcium gluconate 10% IV
(at 100-200 mg/kg) till the spasms
stop, followed by oral calcium
gluconate 50 mg three to four times a
day for a month
Neural damage in the brain or
the spinal cord
l
Hereditary muscle disorder
l
Trauma to soft tissue of a limb.
Pseudo paralysis occurs in the
following conditions and is due to
pain:
l
Management of specific conditions
l
mg IM four hourly till seizures stop.
Oral Magnesium sulphate at 30 mg /
day can also be given.
Bone,
joint
involvement
or
periosteal
A common cause of peripheral nerve
damage is Erb's paralysis. The posture is
that of flexion of the elbow, wrist drop and
the 'chauffeur's tip' or 'police man's tip'
position. The limb is hypotonic and the
biceps jerk is reduced (unlike cerebral palsy
where it is exaggerated).The cause is injury
to the Brachial plexus during difficult labor
as a result of traction on after coming fetal
head damaging the C5 and C6 nerve roots .
Cerebral palsy occurs from anoxic brain
damage and results in spastic limbs which
do not move freely. Spinal cord may be
injured due to traction of a difficult breech
during labor. Marked hypotonia involving
muscles of the limbs, thorax and neck
occurs in a condition called Werdnig
Pyridoxine dependency seizures are
suspected if mother was on Pyridoxine
during pregnancy the withdrawal of
which causes seizures. In such an
event give upto 50 mg Pyridoxine,
slow IV.
Hypomagnesemia is suspected if
hypocalcemic Tetany of day one does
not respond to calcium and the serum
phosphate level is normal. Magnesium
sulphate solution 50% is given at 0.2
156
Hoffman disease, also referred to as 'floppy
baby syndrome'. It is a hereditary disease in
which neurons of the anterior horn cells of
the spinal cord are affected. It is a
progressive condition and death can result
from
thoracic
muscle
involvement
interfering with breathing. Bone and joint
disease resulting in pain and therefore
restricted painful movements causes 'pseudo
paralyses'. Fractures, congenital syphilis,
osteomyelitis, periostitis and similar other
diseases fall in this category.
The treatment
individual condition.
depends
on
Hydranencephaly can be demonstrated by
transillumination
in
a
dark
room.
Confirmation of the cause of the large head
can be diagnosed by skull radiography, CT
scan or MRI.
A small head or microcephaly, to be
confirmed from growth chart of the skull
circumference, is a result of either a small,
underdeveloped brain or premature closure
of the skull sutures. Normal growth of the
brain provides a stimulus to the growth of
the skull bones. Thus a small brain results in
a small skull. If on the other hand, brain is
normal but is not allowed to grow by the
prematurity closed skull sutures forming a
tight box around it, the overall skull size will
remain small. This condition is called
craniosynostosis. Depending upon which
sutures are closed, the skull gets a
characteristic shape labeled brachycephaly,
oxycephaly, dolichocephaly, turricephaly
and so on. Normal brain growth can occur if
the skull sutures concerned are surgically
opened early by an operation called
craniectomy, preventing mental retardation.
A small baby could appear to have a small
skull, or it could be a family feature.
Comparison with growth charts will answer
this question.
the
XIV. Skull
Large or small:
A large head noticed at birth or soon
after birth-macrocephaly, can occur from
several causes. Firstly, it must be confirmed
from normal growth charts whether the skull
is really large or merely appears so. A large
sized child will have an apparently large
looking head. A small, premature baby with a
normal skull can appear to have a large head
because it appears out of proportion to the
size of the child. Sometimes it is a familial
feature. Hydrocephalus is the most important
and common cause of abnormally large
head. Such babies have a bulging fontanel
and widely separated sutures. Hydrocephalus
occurs as a result of obstruction in the flow of
CSF in the ventricular system (obstructive
hydrocephalus) or can also result from
increased production in the arachnoid villi
with or without diminished absorption of CSF
along
the
surface
of
the
brain
(communicating
hydrocephalus).
Obstruction can result from congenital
conditions or from meningitis. The level of
obstruction can be anywhere along the
outflow of CSF. Other causes of enlarged
head are cerebral gigantism, achondroplasia
and hydranencephaly. In the latter the skull is
full of fluid with very little brain tissue.
XV. Common skin conditions In
the newborn
Please see page 118 & Skin Disorders
Chapter 34 & p 131. Skin infections p. 146.
XVI. Common bone and Joint
disorders seen at bir th:
Skull:
Craniostenosis
or
craniosynostosis- premature closure of
sutures gives rise to misshapen skull
depending upon which suture is closed
prematurely (synostosed). See above under
'small skull' Skull may be misshapen in
'molding' resulting from a difficult delivery
during passage of head. In cleft palate there
157
is a gap in the palate inside the mouth
resulting in nasal regurgitation of feeds. The
jaw is small and receded in hypognathia.
L-5 or S-1), (spina bifida) the meninges may
protrude and be seen as a mass in the
midine (meningocele) in that region
(Fig. 36). It may be covered well with skin
and is asymptomatic. If covered with thin
skin there may be leaking of CSF with a risk
of developing meningitis, Such a condition
necessitates an urgent surgical intervention
after thoroughly ruling out associated
defects. If skin is normally thick and covers
the mass well, urgent surgery may not be
required. Other defects that need to be ruled
out are diastometamyelia, urinary bladder
function (neurogenic bladder), meningitis,
hydrocephalus, tethered spinal cord, lipoma
and other masses. In meningomyelocele
however, not only the meninges but also
spinal neural tissue herniates resulting in
neurological signs including lower limb
paralysis, defective neurogenic bladder
control and so on. The mass is not covered
with skin but with a thin membrane
distinguishing
it
from
meningocele
(Fig. 36B). Meningitis is a great risk so also
hydrocephalus. Other defects of the cord
and brain may be associated. If present in
the lower sacral region, meningomyelocele
may be covered with skin unlike in lumbar
region and is less likely to be associated
with neurological complications.
Spine: Deformity apart from kyphosis
(forward bending of spine) and scoliosis
(side bending of spine), can be defects in
the posterior vertebral arch giving rise to
'spina bifida" and resulting protrusion of the
spinal cord and or its covering out of this
gap in the bone. Meningocele is only the
protrusion
of
the
meninges
and
Meningomyelocele is additional protrusion
of the segment of the spinal cord in the
region. Both give rise to a midline mass in
the back. When the mass is covered with
skin it is a meningocele, and if there is no
skin over it but only a thin sheath covering
the mass it is a Meningomyelocele
(Fig. 36A), Surgery may be possible without
damage in the case of meningocele because
spinal cord may be intact but in the case of
myelomeningocele, some spinal cord matter
will also need to be sacrificed resulting in
limb paralysis, urinary retention or
incontinence etc. In spinal rachichisis the
whole spinal cord is exposed as result of
defect in the posterior vertebral arches of
vertebrae.
Midline mass at the back: As a
result of a defect in a vertebral arch (usually
(A) Myelomeningocele
Spinal cord elements
in the mass
(B) Meningoele
Fig. 36
158
(C) Meningocele
Other midline masses are lipomas,
sacrococcygeal teratomas.
commonly termed as 'club foot' deformity is
plantar flexion and inversion of the foot as a
result of the intrauterine posture. Treatment is
by applying corrective casts immediately after
birth which if delayed permanently deforms
the foot. Congenital dislocation of the hip
(CDH): a special maneuver called the
'Ortoloni maneuver' in which a click is heard
on moving the femoral head into the
acetabulum confirms the dislocation. The
treatment is to maintain the legs in the
position of abduction and external rotation
with the help of a special splint. Genu
recurvatum is a deformity in which there is
hyperextension of the knees as a result of
laxity of the ligaments. Calcaneovalgus
deformity comprises pronation, abduction
and eversion of the foot (opposite of CTEV).
There are many more and cannot all be
covered here.
Chest: Hemi vertebrae or wedge
vertebrae is a condition where the vertebral
bodies are incomplete/ wedge shaped so
that the ribs arising from these vertebrae are
not parallel resulting in chest deformity.
Limbs: The upper and lower limbs
may be deformed in a host of conditions as a
result of inherited or antenatal causes. They
may
be
small,
absent
in
part,
disproportionate or deformed. Upper and
lower segment ratio (crown to rump versus
total length) may be altered. The baby may
have a short stature as a result of bone
disease such as achondroplasia (circus
dwarfs) or other causes. There may be
polydactyly (more than 5 fingers), syndactyly
(fused fingers) or other deformities.
Congenital talipes equinovarus (CTEV),
159
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24
25.
26.
27.
28.
29.
30.
31.
32.
33.
34.
SECTION 4
CLINICAL PEDIATRICS
COMMON SYMPTOMS AND SIGNS
CRYING
FEVER
FAILURE TO THRIVE
OBESITY
SHORT STATURE
DELAYED PUBERTY
PRECOCIOUS PUBERTY
CONSTIPATION
VOMITING
DIARRHEA
ABDOMINAL PAIN
ABDOMINAL DISTENSION
URINARY SYMPTOMS
JAUNDICE
EDEMA
PALLOR
BLEEDING AND BRUISING
NASAL DISCHARGE 'COLD'
COUGH
WHEEZING
STRIDOR
CYANOSIS
CARDIAC MURMUR
HEADACHE
SEIZURES
COMA
INVOLUNTARY MOVEMENTS
MENTAL RETARDATION
INABILITY TO MOVE A LIMB
THE SPASTIC CHILD
THE HYPOTNIC CHILD
SWOLLEN JOINTS
LYMPH NODE ENLARGEMENT
COMMON SKIN DISORDERS
161
163
167
169
172
175
176
178
180
188
196
199
210
213
217
219
226
232
234
245
248
252
256
267
269
273
277
280
282
286
290
293
295
301
1
Crying in Children
Crying is the only means of
communication in a helpless, dependant
infant with those around him serving to draw
their attention when need arises. The nature
of the cry often gives a clue to the
experienced mother as to the probable cause
of crying and to alert the nurse and physician
to the diagnosis of the underlying clinical
disorder if the cry is abnormal. A nurse must
be alert in recognising the nature of crying.
Some of the common causes of crying
in normal and abnormal states are listed
below:
A. Neonatal period and early infancy
Hunger
Flatulence
Excess heat/cold.
Over clothing/
tight clothing
Soiled napkin
Loneliness
B. Late infancy
Hunger
Fatigue
Fear
Loneliness
Itching
Unpleasant
smell/taste
Sudden noise
Strong light on
face
Sudden change
in position
Colic/Earache
Boredom
Stopping of
pleasurable
sensation
Jealousy
Disturbances in
development of
ego and of
personality
C. Children over one year
Attention
seeking
Hurt, fall,
punishment
Dispute with
playmates
Conflicts during
ego
development
In the newborn the average duration
of crying is about two hours a day. Variation
in duration is dependant upon nursing care.
Crying in later months compared to early
months differs in quality and intensity in
that it is more expressive and meaningful
and is more dependant on external
situations. Hunger may result in varying
intensity of crying dependant on individual
differences in personality. Some placid
infants may delay crying while others may
scream immediately and vigorously to draw
the mother's attention. The response
however depends also on the intensity of
hunger, the feeding schedule and the
amount of feed offered each time. Demand
fed infants appear to be more contented
than those fed on a strict time schedule.
Abdominal colic most commonly a result of
flatulence (secondary to air swallowing not
uncommon in premature infants) is
suggested by a sharp cry occurring in
paroxysmal bursts during which the infant
becomes flushed, tenses his muscles and
alternately flexes and extends his legs
sometimes with wriggling movements of the
trunk. Earache is usually heralded by shrill
bouts of crying with shaking of head from
side to side and pulling and tugging at ears.
Loneliness, not to be ignored or treated with
contempt, is indicated by immediate
stopping of the infant's wail on being picked
up, rocked in his cradle or spoken to by the
mother. Continued neglect of such an infant
may lead to severe emotional disturbances
sometimes ending up in extreme forms of
anorexia and malnutrition. Other causes of
crying listed above are equally common and
not difficult to detect if looked for.
In late infancy and childhood crying is
qualitatively more deliberate and in
diminishing frequency. More subtle stimuli
like frustration and fears are often voiced at
this age period with crying. Fear may be
shown by crying on seeing a stranger or
spoken to by a stranger or by finding
himself in a strange environment or even by
seeing an older sib crying. Jealousy may
lead to crying if the mother holds, speaks to
or shows affection to another child.
Loneliness in this age group, elicits varying
degrees of crying response, with differing
personalities. Some remain content alone
and play with toys for a while, while others
cannot stand a moment's loneliness.
Diagnosis of different types of cry and
differentiating it from other sounds
Given below are some conditions in
which a characteristic cry or sound gives a
clue to the diagnosis: (E G Weinberg, 'sound
diagnosis' Groote Schuur Hospital, Cape
Town, presented as a tape recording by
Pfizer Lab Division Pfizer Inc New York, NY
10017)
Condition
l
Development of ego and personality in
an older child brings about changed
responses in crying. He expects his likes and
dislikes to be respected as his basic needs
for comfort, love and security. Failure to
provide such opportunities now result in
crying which is more deliberate, meaningful
and clearly distinguishable from earlier
simpler patterns. Thus factors responsible
for crying take more subtle forms. Lack of
opportunity for playing, boredom or
restricting a pleasurable experience, for
example removing him from a bath he was
enjoying result in crying.
Weaker
Laryngotracheo
bronchitis
Croupy cry, stridor
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Pneumonia
l
"Cri du chat"
(Chromosome 15)
Grunting, near
mechanical cough
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l
l
l
162
Lusty, full throated
cry
Premature baby
l
As the child grows, crying may arise
from situations where his pride is hurt or
where he faces a frustrating experience. As
an attention seeking device, crying may be
produced by trivial knocks or falls. Disputes
with his peers and inability to have his own
way may result in crying. With increasing
age crying is confined to more serious
difficulties and therefore becomes less
frequent. To a considerable extent now,
individual personality increasingly comes
into play and determines the causes, nature
and severity of crying.
Normal full term
baby
Nature of cry or
sound
Hyaline membrane Grunting
disease
respiration with cry
Bronchial asthma
Brain damage,
severe mental
Retardation
Mongolism
Hypothyroidism
Psychogenic
cough
Bronchiolitis
Wheezy,
bronchospastic
sound
Cat like, plaintive
cry
High pitched
laughing cry
Weak cry due to
hypotonia
Hoarse cry
Forced, artificial
cough ('Honkers')
Persistent,
spasmodic, almost
like Whooping
cough without the
whoop
2
Fever in Children
Fever is a common presentation in
children, subject to most irrational attitudes
by parents of children. Parents complain of
fever when the child's palms and soles
appear 'warm' and without measuring the
temperature. Believing this and often
without verifying, antibiotic is prescribed.
Even educated parents' children who
complain of 'mild' fever or 'feverishness' do
not have it on actual measurement. The
alert nurse must clear this whenever a
situation arises, to prevent unnecessary
treatment. Some common myths and beliefs
are associated with fever, particularly among
the rural folk. For instance food is restricted,
the child is over clothed for fear of imagined
'exposure', 'hot food' is avoided, talismans
and amulets are tied and so on. Although
these beliefs may not be harmful in
themselves they indeed delay treatment.
As a first step, a fever chart should be
maintained, daily, recording four hourly
temperatures which indicates
l
l
l
l
Whether fever is present at all
If present, its range, diurnal variation,
spikes,
whether
intermittent,
continuous, remittent, periodic etc. The
pattern fever is following often
provides a pointer to the cause of fever
This will
treatment
determine
the
line
of
The response to treatment can be
followed up and duration of treatment
determined
Measurement of fever in children
Fever can be taken from the mouth
only in older children and is risky in the
younger ones since if it breaks in the mouth,
the swallowed mercury is likely to cause
symptoms including kidney damage. In
infants and young children it can be
measured in the armpit or groin and the
thermometer kept there for five minutes and
not less. Rectal temperature is most reliable
and is taken with a short bulb thermometer
meant for this purpose. Several devices are
available such as digital thermometers,
measuring ear temperature etc. but these are
expensive. Skin strips are unreliable.
Fever most often results from infection
somewhere in the body. However, rarely
though, fever may be present in conditions
other than infections and sometimes an
infection may not be accompanied with
fever, such as in premature infants, under
immuno-suppressive conditions, severe
malnutrition etc.
Fever with and without symptoms
Fever
can
be
present
with
accompanying symptoms which enable the
clinician to localize the site of infection. For
example fever with sore throat indicates
throat infection as a possible cause of fever
and a skin abscess or a toothache as
infection in the skin or root of the tooth.
Earache may be a pointer to otitis- media or
externa. However, fever may sometimes
occur without any localizing signs or
symptoms. Such cases need to be
investigated for a possible cause before
appropriate treatment can be given. If fever
persists for a week and no cause is found
after intensive investigations, it is labelled as
Fever or Pyrexia of unknown origin.
Fever presents in different patterns and
temperature recording determines this
pattern and helps in determining the cause
of fever:
tract infection may not present
immediate signs. If all these infections
are ruled out, one must consider
rheumatism, rheumatoid arthritis or
lymphoma. A careful examination
should include signs like rashes,
splenomegaly, mild joint (synovial)
swellings and examination of the urine
for pus cells. Appropriate lab tests
should be carried out as required.
Patterns of fever:
Continuous: Temperature does not
drop to normal for the duration of the fever
Intermittent: Temperature returns to
normal between bouts of fever
Remittent: Temperatures during the
day fluctuate by more than 3°F.
Periodic: When the fever follows a
periodic pattern like alternate day, every
third day or evening rise.
Hyperpyrexia i.e. fevers above 104°F
or 40 °C often poses a problem. It is more
common in younger children and infants
than in older children and in those below
the age of five years may cause convulsions
(febrile seizures) Hyperpyrexia is made
worse by over clothing, closed inadequately
ventilated room and in summers.
Focus of infection
A thorough examination should be
carried out to look for a 'focus' of infection
including the scalp (for scalp infection), ears
(for otitis), mouth (for dental abscess), skin
(for boils, furuncles, abscesses, impetigo
etc), glands any where (for lymphadenitis of
any cause such as Tuberculosis, local
infection), orifices including the mouth,
ears, nose and anus, armpits, groins,
interdigital spaces and the genitals etc, for
any infective lesions.
Antipyretics, preferably paracetamol,
in a dose of 15 mg per kg body weight can
be given for symptomatic relief. Besides,
'tepid sponging', i.e. wiping with a moist
cloth/ towel brings the fever down. Ice and
ice packs to the forehead should be
avoided. Nimesulide is not recommended
ordinarily.
Age factor:
l
l
l
During the first two years, fever alone
is not common and is often
accompanied by other signs or
symptoms.
Cause of fever
(common infections)
In those over the age of two years, it is
more likely to be an isolated symptom.
Most frequent causes are respiratory
infection (ear, throat), urinary tract
infection
(usually
asymptomatic).
Others that should be looked for are
malaria and tuberculosis particularly if
fever is recurrent or prolonged.
Bacterial Infections:
Focal:
Closed
abscesses:
subdiaphragmatic etc including dental, lung,
brain, and appendix.
Systemic Urinary tract (pyelitis,
cystitis, urethritis, respiratory tract (sinusitis,
otitis, tonsillitis, pneumonia), bones and
joints (osteomyelitis, arthritis), GI tract,
brain and meninges etc.
By the primary school age and
beyond, children may have had one of
the eruptive or infectious fevers,
particularly in unvaccinated children.
Respiratory
infections
are
still
important. Generalized infections like
typhoid, malaria, tuberculosis, urinary
Generalized, Salmonella, tuberculosis,
endocarditis,
brucellosis,
tularaemia,
tetanus, coccal infections, Diphtheria,
Pertussis, E Coli, Cholera, spirochetal
infections etc.
164
Coccal/Bacillary
Acute Rheumatic fever
(Post Streptococcal
sequel)
Viral Infections
Parasitic
Infections
Hepatitis (A to E)
Infectious mononucleosis
Cytomegalovirus
Measles
Rubella
Dengue
Mumps
Herpes
HIV
Rabies
Others
Malaria
Toxoplasmosis
Amebiasis
Leishmanisis
Giardiasis
Juv. Rheumatoid Arth.
Histoplasmosis
Systemic lupus
Polyarteritis nodosa
Dermatomyositis
Sarcoidosis
Amyloidosis
Kawasaki's disease
Behcet's disease
Fungal
Rickettsial
Spirochetal
Protozoal
Collagen Disorders
Neoplasias
Hodgkin and non
Hodgkin lymphoma
Leukemia
Wilm's tumor
Neuroblastoma
2.
Other
infections
Miscellaneous
conditions
Thermo genetic
instability
Drug fever
Dehydration
fever
Malingering
3.
A practical day by day approach to the
diagnosis of fever is as under:
1.
4.
On the first day of fever, carry out a
thorough clinical examination from
165
head to foot for any focus of infection
and for any positive physical signs. If a
focus is found, like an abscess, otitis
media, dental abscess, painful joint or
bone (acute arthritis or periostitis) or
physical sign like tenderness, pain and
other signs, treat with an appropriate
antibiotic together with symptomatic
treatment. If there is no evidence of
infection and fever is the only
symptom, give antipyretics and wait
for a day. Ask parents to maintain a 4
hourly fever chart.
Sometimes fever is transient and
disappears without treatment or after a
dose of an antipyretic. If fever persists,
ask for any further development of
complaints and carry out another
clinical examination, looking for signs
or any focus of infection. If nothing is
found, it is desirable to give empirical
treatment for malaria. It acts as a
therapeutic test and often rules out
malaria. Examination of the urine
should be carried out for infection) pus
cells and organisms on Gram's stain).
If suspicious, ask for urine culture and
antibiotic sensitivity test. This is done
because urinary tract infection (UTI) is
often asymptomatic or has vague
symptoms in children. It evades
diagnosis if urinalysis is not carried
out.
If in spite of antimalarial therapy fever
still persists, carry out another clinical
examination for any physical signs.
Meanwhile, look up results of
urinalysis and culture for evidence of
UTI. If confirmed treat the infection
according to the antibiotic sensitivity
test.
If fever persists on the fourth or fifth
day, examine again for any skin rash
or eruption like measles. Chicken pox
5.
6.
is ruled out since its rash would have
appeared on the first or second day of
fever.
l
If fever persists beyond the sixth day
and no signs or symptoms are
obvious, suspicion should be directed
to the possibility of typhoid (enteric)
infection and tests should be carried
out for tuberculosis, rheumatoid
arthritis, other collagen disorders,
hepatitis, neoplasias like lymphoma,
Hodgkin's disease etc in due course of
time.
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l
Fever that remains undiagnosed by
now is called PUO or pyrexia of
unknown origin and calls for careful
study and investigations by experts.
Most fevers, however are diagnosed
and treated appropriately and recover.
Even in the case of PUO, usually
atypical presentation of a common
illness rather than atypical and
uncommon infection is responsible for
the fever. Drug resistant infection
should be kept in mind.
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l
Until the cause is known and treated,
fever can be symptomatically treated thus:
l
If fever is high and uncontrollable,
injectable or rectal paracetamol can be
given.
Aspirin is known to cause Reye's
syndrome in children, hence avoided.
Ibuprofen 5-8 mg/kg is also effective
and can be given 4 to 6 hourly as
required. Prolonged use should be
avoided. Ibuprofen and paracetamol
can be alternated or combined in
hyperpyrexia of over 41°C.
For description of some common
febrile conditions see:
Control of fever.
l
doctor's advice as home remedy with
dengerous consequences.
Vaccine preventable diseases:
Measles, Pertussis, Diphtheria, Mumps,
Rubella, Chicken pox, Poliomyelitis,
Typhoid,
Tetanus,
Rabies,
Tuberculosis:(Section 2, chapter 2)
Other common febrile diseases:
(See section 2, chapter 2)
Infections in the newborn: (See
section 3B)
Systemic infections as cause of
fever: (See related symptom in section 4)
For gastroenteritis, appendicitis, liver
abscess, pancreatitis, cholecystitis etc.:
Chapters 11 (Abdominal pain) and 12
(Abdominal distension)
"Tepid sponging". This is done with
plain tap water or just lukewarm water
in winters. A towel should be soaked
wet and then squeezed to drain out
excess water and then gently rubbed
all over after clothes are removed.
Chilling should be avoided. Ordinarily,
ice is avoided as it could result in
rebound fever.
For urinary tract infections:
13 (Urinary Symptoms)
Chapter
For hepatitis: Chapter 14 (Jaundice)
For respiratory infections: Chapters 19
(Cough), Chapter 20 (Wheezing), and
Chapter 21 (Stridor)
Paracetamol in a dose of 15 mg/kg
body weight can be given by mouth.
Nimesulide should be avoided because
of its hepato- and nephro- toxicity.
Since oral Nimesulide is effective,
mother's learn to use it without
For osteitis, periostitis: Chapter 29
(Inability to move a limb)
For arthritides: Chapter 32 (Swollen
joints)
166
3
Health workers are often confronted
with the question of 'poor growth', 'child not
thriving' and so on. In such a situation we
must first ascertain if this is really so or is it
merely parental anxiety. There are variations
in normal physical growth and the range acceptable minimal and maximal - can be
seen from growth charts. Besides, growth
should be assessed in the context of factors
that influence growth and these are parental
weight and height, duration of gestation,
birth weight, congenital anomalies if any,
history
of
feeding
during
infancy,
psychosocial factors, chronic infection,
particularly of the gut and other illnesses.
One or more factors named above may be
responsible for poor growth. (See normal
growth and development and factors
influencing growth in section I.)
Failure to Thrive
6.
Chronic infection
1.
Inadequate intake:
7.
l
l
l
l
l
All children are different- some small,
some big, some thin or fat. The important
thing is that a child should be full of energy,
free from lascitude and happy rather than
average in height or weight. Food forcing by
parents, particularly mothers, in order to
ensure 'good growth' is the most common
cause for loss of appetite. It sets up a vicious
circle thus:
Small child > Anxiety of parents >
food forcing against will > Refusal
(unpleasant meal time) > Aversion to food
> poor growth > further food forcing.
Causes of failure to thrive (FTT)
1.
Inadequate intake
3.
Loss of fluid / nutrients
2.
4.
5.
Defective absorption
Disease of organs
Metabolic errors
Others.
l
l
2.
Inadequate
breast
lactation failure.
feeds,
In artificially fed babies- poorly
informed or uneducated mother.
Unsuitable formula, over diluted,
infrequent feeds
Lack of appreciation of increased
needs of a premature baby and
therefore formula calculated as
for normal baby.
Food fads, ignorance, harmful
traditional
practices
like
classification of foods into 'hot'
and 'cold', starvation in illness
etc. See section 1 on traditional
practices.
Emotional deprivation such as
from separation or death of
mother,
prolonged
hospitalization,
child
abuse,
orphan children.
Anorexia from infection or other
disease.
Defective absorption:
Defective fat
absorption
(steatorrhea)
Defective
carbohydrate
absorption
Defective
protein
absorption
Biliary atresia
Alactasia
Cirrhosis of
liver
Amylase
deficiency
Ulcerative
colitis
Fibrocystic
disease
Lactose
intolerance
Exudative
enteropathy
Trypsinogen
deficiency
Others:
Crohn's
disease
Galactosemia
Celiac disease
Giardiasis
Milk allergy
Severe iron deficiency
Protein losing enteropathy
Tuberculosis
Ulcerative colitis
Drugs- Neomycin, kanamycin
3.
l
l
l
Loss of nutrients and fluids
Chronic vomiting
Chronic diarrhea
l
Renal tubular acidosis
l
Exudative enteropathy
l
Idiopathic hypercalcemia
l
Nephrogenic diabetes insipidus
l
Adrenal hyperplasia
l
Hypophosphatasia
Organ disease:
l
l
l
4.
l
l
l
l
l
l
5.
l
l
Brain disease
Mental retardation.
Cerebral palsy
Tumors
Subdural hematoma
Heart disease
Congenital heart disease
Lungs
Asthma
Tuberculosis
Bronchiectasis
Kidney disease
Polycystic disease
Renal fibrosis
Hydronephrosis
Chronic pyelonephritis
Liver disease
Cirrhosis Liver
Pancreatic disease
Diabetes mellitus
6.
7.
Chronic Infections
Tuberculosis
Malaria
HIV
TORCH
Drugs
Neomycin
Kanamycin
Methotrexate
Mercaptopurine
PAS
Note: There is an overlap of causes as
these could fall into more than one
category.
Diagnosis:
Where cause is not obvious, initial
hospital observation of about two weeks is
often necessary to get at the cause. A
calculated regular diet is given and the daily
intake and weight are carefully plotted. The
following results enable a categorization:
Metabolic errors
l
Hypophosphatemic rickets
Hypophosphatasia
Infantile hypercalcemia
Pseudohypoparathyroidism
Storage disorders
Mucopolysaccharidosis
Lipidosis
Minerals
Wilson's disease
Amino acid metabolism
Aminoacidurias
Aminoacidemia
Organic acid metabolism.
Organic acidemias
Organic acidurias
Cystic fibrosis
Metabolic anemias
Hemoglobinopathies
(Thalassemia, sickle)
Others
Renal tubular acidosis
Calcium & Phosphorus
168
(a)
If intake is adequate and weight gain
satisfactory it may indicate improper
feeding technique at home or
disturbed relationship with the mother.
The child can be discharged with
advice and followed up as an
outpatient
(b) Adequate intake, poor or no weight
gain
despite
increased
calories
indicates malabsorption which should
be investigated
(c) If intake is inadequate, the causes can
be sucking / swallowing difficulties
(neuromuscular disease, esophageal
and oropharyngeal malformations);
inability to take full feed (cardiac,
respiratory disease etc); chronic
vomiting
from
upper
intestinal
obstruction, chronic metabolic errors,
increased intracranial pressure or
psychosocial causes)
(d) Observations can also be made of
mother infant behavior while in hospital.
Careful and economic selection of
diagnostic lab tests will depend on possible
cause from history, physical findings and the
two week hospital observation as proposed
above.
l
l
l
Tandem mass spectrophotometry for
metabolic anomalies (amino acids)
Brain imaging (CT scan, MRI), barium
meal for upper and enema for lower
gut visualization as required. IVP for
anomalies. Cardiac Echo Doppler if
required for congenital heart disease
Any other tests required.
Management:
This is essentially based on the cause.
Thus find and treat the cause.
l
In the event of inadequate diet the
daily requirements have to be assessed
and provided orally or, in case oral
feeding is not possible, gastric tube
feeding may be required. Daily weight
monitoring must assure that there is
the required gain in weight.
l
If neither of the above is possible TPN
i.e total parenteral nutrition through a
central vein may be required with or
without oral or tube feeding.
l
Daily fluid and electrolyte losses may
need to be assessed and covered
intravenously as required, in those fed
by mouth or tube.
l
Lactose intolerance, milk allergy or
gluten enteropathy (celiac disease),
need dietetic management.
l
Infections and infestations need to be
treated with appropriate antibiotics,
antiprotozoal agents as required.
l
Chronic
infections
(tuberculosis,
malaria, TORCH, HIV) demand
appropriate therapy.
l
For organ diseases, a combination of
supportive/nursing care, drugs, surgery
and rehabilitation (as in congenital
heart disease, mental retardation,
brain disease, congenital gut disorders)
will be required appropriate to the
cause.
l
Metabolic illnesses and endocrine
disorders
are
managed
with
appropriate metabolic and hormonal
corrections, diets and medical therapy.
Investigations:
l
Blood- CBC, ESR, malarial parasite,
antigliadin antibodies, electrolytes,
BUN, renal function, blood glucose,
serum osmolality, thyroid function,
hormonal studies as required. PCR or
gamma interferon for mycobacterium
tuberculosis
l
Urine-Routine, for UTI including
culture, albumin, pH, osmolality,
reducing substances.
l
Stool- Reducing substances for lactose
intolerance, pH, occult blood, fat.
Appearance: large, pale, bulky, frothy
in celiac disease. Microscopy for ova,
cysts.
l
Endoscopy
(esophagoscopy,
sigmoidoscopy as required)
l
Liver, gland or other biopsy.
169
4
Obesity
This is becoming now an increasing
problem in developing countries like India
where both malnutrition as well as obesity
occur side by side. This is because we, as an
emerging nation, have both poor as well as
rich populations, with the middle class
getting
progressively
prosperous.
Urbanization, sedentary life styles, 'junk' and
calorie dense foods are becoming easily
available. Added to this are genetic factors,
family perceptions, and psychogenic factors.
l
l
l
Obesity is assessed from:
Growth charts for 'weight for height':
95th percentile and above
Body mass index (BMI) Less useful for
children. (See p. 18 chapter on 'growth
and development')
Skin fold thickness.(Skin fold calipers)
(See p. 20 chapter on growth and
development).
Diagnostic criteria:
(Look up BMI percentile charts for age
Condition/Syndrome
Cushing's:
Laurence Moon-Biedl:
Prader Willi
Turner
Frohlich
Alstrom
Pseudohypoparathyroidism
Conditions where activity
is reduced
(not given here), with reference to weight
status.)
Overweight:
percentile for age
risk'.
Over
95th
of
BMI
85th to 94th BMI percentile for age: 'At
Or, Obesity= BMI more than 25 kg/m2
Causes:
l
l
l
l
l
Genetic factors are responsible for
obesity in certain families.
Dietary factors: Carbohydrate and fat
rich, high density foods
Birth weight, parental weight, maternal
diabetes and lazy life style
Endocrine factors: Hypothyroidism,
deficiency of growth hormone Insulin
resistance, particularly in children of
diabetes type II parents, Cushing's
syndrome, Hypogonadism.
Hypothalamic
factors:
craniopharyngiomas, infections etc. as
Manifestations
Moon facies, hypertension, short stature, hyperglycemia. Adrenal
hyperplasia, Pituitary tumor.
Syndactyly, polydactyly, retinal degeneration,
Hypogonadism, mental retardation
Mental retardation, small hands and feet, hypotonia at birth, short
stature, hypogonadism, some have partial deletion of chromosome 15.
Web neck, lymph edema, ovarian dysgenesis, XO
Karyotype. (Also see chapter on Genetics)
Hypothalamic tumor
Deafness, diabetes mellitus, degeneration of retina, Hypogonadism.
Hypocalcemia, tetany, skin calcification, skeletal Abnormalities,
especially hands.
Muscular dystrophies, prolonged illness confining
patient to bed but with normal appetite.
l
l
a result of the destruction of satiety
center
resulting
in
overeating,
Laurence-Moon-Biedl
syndrome,
Prader Willi syndrome.
l
l
Medication: Some antiepileptic drugs
(Sodium Valproate), Corticosteroids.
Others: Emotional
overeating.
factors
l
causing
l
l
l
l
l
l
l
Anthropometric evaluation,
Growth and feeding pattern,
Maternal and family history
diabetes and obesity, diet;
l
of
l
Dysmorphism,
Sexual maturity staging,
Clinical features of any endocrine
disease,
hirsutism,
menstrual
irregularities,
CT scan and MRI as required.
Diet control, under supervision of a
dietician.
Life style adjustment, (especially
televiewing, changing food habits and
exercise).
Drugs (anorexic agents) and surgery
like gastric etc are not recommended
except in extremely rare circumstances.
l
Psychotherapy as required.
l
Through education of parents and
children, particularly in vulnerable
families.
Prevention is necessary
Thirst and polyuria, hypertension.
Psychologic evaluation, food habits,
TV watching etc.
l
From lab investigations:
l
Karyotyping.
This is essentially done with:
From history and physical examination:
l
X-rays for bone age, and for any
abnormality of sella,
Management:
Diagnosis:
l
profile,
Blood sugar, lipid profile, thyroid
171
Help of a dietician, counseling and
anticipatory guidance are essential
aspects of long term preventive
management.
5
Short Stature
Children below the third centile in
height are included in this category. A fifth
of these (20%), have a pathological cause.
Of the remaining, half (40%) may be
categorized as Familial Short Stature (FSS)
and the other half (40%) as Constitutional
Growth Delay (CGD).
Familial
Constitutional Delay
height percentile line to its end in the height
chart (to around 18 years)
Diagnosis:
Clinical evaluation:
The first thing to decide is whether it is
normal variant short stature from the
following features
l
The child is short all Normal at birth and fist
along, < 5th centile few months. Slows down
by end of infancy to below
5th centile. Height and
puberty delayed.
l
Bone age normal.
l
Final adult height
is short
Normal as adult.
Parents and
relatives short
Normal but have history
of delayed puberty.
Nearly equal to height age
Definition:
l
l
l
Height less than third centile
Height less than midparent height plus
12 cms. in boys and minus 12 cms. in
girls
Height velocity less than 6 cm per year
from age 3 years to onset of puberty.
Mid parent height is half of the sum of
mother and father's height. The predicted
adult height of boys is 12 cms added to this
midparent height and of girls 12 cm
subtracted from this. As an example, if father
is 170 cm and mother 160 cms, the mid
parent height will be 170+160= 330 cm
divided by two which equals 165 cm. The
predicted adult height for the son is likely to
be 12 added to this mid parent height i.e.
165+ 12= 177 cm and for a daughter 16512= 153 cm. Another way of predicting
adult height for a child is following his or her
l
l
Gestation, birth length, serial height
records.
Absence of dysmorphic features and
chromosomal disorder.
Family history of short stature or
delayed puberty.
Normal body proportions.
Normal physical examination.
If normal variant short stature is ruled
out, decide if short stature is proportionate
or disproportionate from the following
measurements:
The proportion between the upper and
lower segments of the body (i.e. crown
rump and rump heel) is normally: (see Fig.
1 & 2)
1.7: 1 at birth
1.3: 1 at 3 years
1.0: 1 at 7 years
The relation between span length (arm
length from middle finger tip to opposite
finger tip in fully outstretched arms) and
total standing height measures as under
(Fig. 2)
Span minus height:
Below age 7 years:
Age 8 to 12 years:
After age 14 years:
Boys:
Girls:
-3 cm
(Equal): 0 cm
+ 4 cm.
+ 1 cm.
SHORT
STATURE
NORMAL VARIANT
(80%)
Familial
(40%)
PATHOLOGICAL
20%
Constitutional
Growth Delay
(40%)
Proportionate
Disproportionate
Prenatal Onset:
Postnatal Onset:
IUGR
Chromosomal
•
Infections. (TORCH)
•
Drugs (Alcohol, Tobacco)
•
Dysmorphic Syndromes
Chromosomal disorders
(Down’s, Turner’s)
Endocrine causes
Psychosomatic
Malnutrition
GI disease (celiac Krohn’s)
Cardiorespiratory (CHD Asthma)
Chr. Anemia
Chr. Renal disease
Rickets
Skeletal
Limb
short
dys plasias
Trunk
short
Diagram showing etiology of shor t stature
From these norms, whether short
stature is proportionate, as indicated above,
or disproportionate can be ascertained.
l
Postnatal:
If it is proportionate the causes are
likely to be:
Prenatal:
(Down's, Turner's)
1. Endocrine causes
Hypopituitarism
D. Mellitus
IUGR
Cushing's
Drugs (Alcohol, Tobacco)
Hypogonadism
Hypothyroidism
Infections. (TORCH)
2. Other causes:
Dysmorphic Syndromes
Psychosomatic
Chromosomal disorders
173
Malnutrition
G.I disorders: Celiac,
Krohn's
l
Cardio respiratory:
CHD, Asthma
l
Chr. Anemia: Sickle cell,
thalassemia
Chr. Renal disease
l
l
If the short stature is disproportionate
the causes are:
v
v
Rickets, nutritional,
metabolic.
renal
or
Skeletal dysplasias.
Thus, after excluding normal variant
short stature which accounts for 80% of the
causes, pathological short stature needs to
be looked for under proportionate or
disproportionate causes by measuring
proportions. See chart above. Disproportion
is further classified into short limb and short
trunk dwarfism. There are distinct conditions
with special features to each including
dysmorphism, skeletal abnormalities, facial
features and karyotypes. Examples: are:
triangular face of Russell-Silver and
Noonan's syndrpome, mongoloid facies of
Down's syndrome, skeletal features of
mucopolysaccharidosis, the short limbs of
achondroplasics (circus dwarfs) etc.
Short limbs: Achondroplasia,
multiple epiphyseal dysplasias
Laboratory Evaluation:
To come to a logical conclusion a set
of investigations is selected based on clinical
evaluation. These include
l
Routine lab tests, including blood
counts, and urine
Chemical
calcium,
Radiologic including bone age, skull xrays and other imagiologic tests as
required.
Karyotyping
for
chromosomal
abnormalities
Endocrine essays including Thyroid
profile, somatomedin, special growth
hormone essays, FSH in girls.
Management entirely depends on the
nature of abnormality.
Short-trunk :
Mucopolysaccharidosis, spondyloepiphyseal
dysplasia.
l
phosphatase, serum albumin, liver
enzymes, sweat chloride, serum
gliadin.
tests
including
serum
phosphorus,
alkaline
174
6
Delay is considered if onset of puberty
does not set in by 13 years in girls and 14
years in boys. This onset means
enlargement of the breast bud in girls and
increase in the size of testes. This
corresponds to sexual maturity rating
(Tanner) of stage 2. (See Fig. 13)
Normal variant, commonly seen is
'constitutional delay', where children mature
late. They are otherwise normal and do not
have any systemic or endocrine pathology.
History of delayed puberty is often present
in parents or sibs.
Causes
l
Pathological causes are:
Endocrine disorders gonadal and non
gonadal.
Among
gonadal
is
hypogonadism (see below) and among
others,
hypothyroidism,
growth
hormone
deficiency,
adrenal
dysfunction, poorly controlled juvenile
(insulin dependant) diabetes mellitus,
adrenal dysfunction.
Prolonged or poorly controlled chronic
illnesses
like
protein
energy
malnutrition, asthma, bronchiectasis,
cardiomyopathy, chronic renal failure,
hemoglobinopathies(Thalassemia
and Sickle cell disease.)
Hypogonadism: This can be primary
due directly to gonadal pathology, and other
from
pathology
of
pituitary
and
hypothalamo-hypophysial axis
l
Primary:
In
boys:
Klinefelter's
syndrome
(Chromosome abnormality with karyotype
XXY), clinically presents with eunuchoid
proportions of the body, gynecomastia and
small testes. Secondary sex characters may
appear but there is infertility.
Delayed Puberty
In girls: Turner's syndrome clinically
recognized by certain dysmorphic features
including web neck, broad chest, wide
spaced nipples, high arched palate, cubitus
valgus, short fourth metacarpal and
metatarsal and amenorrhea.
Hypothalamo-hypophysial (pituitary)gonadal'HPG' axis:
Hereditary
disorderKallman's
syndrome comprises anosmia with family
history of the syndrome. There is isolated
deficiency of gonadotrophins.
Damage to the HPG axis occurring in
head injury, tumor (craniopharyngiomas
involves this region), infection (tuberculous
meningitis) and cranial irradiation can result
in hypogonadism.
Diagnosis
This is made from a) History; b) the
characteristic clinical features of the
individual syndromes as indicated above
and c) lab investigations.
l
l
l
l
l
l
l
Lab investigations include
X-ray skull-both PA and lateral views
and CT scan to visualize the pituitary
region.
Appropriate X-rays for determining
delay in bone age
USG (or scan/MRI) of abdomen as
required for ovaries, testes and lower
abdomen
Hormonal assays: LH, FSH, LHRH
stimulation
test
to
distinguish
hypogonadotrophic-hypogonadism
from constitutional growth delay
Thyroid profile
Growth hormone studies.
Karyotyping for Turner, Klinefelter's
and other chromosomal disorders.
7
Appearance of secondary sexual
characters before the age of 8 years in girls
and 9 years in boys is considered
precocious. It is commoner in girls.
Isosexual precocity refers to the appearance
of secondary sex characters of the same sex
and heterosexual to those of the opposite
sex. Here only isosexual precocity is
discussed.
Clinical features in girls are: rapid gain
in height, and of development of breasts,
axillary and pubic hair and early
appearance of menarche. In boys: Acne,
voice change, rapid enlargement of penis,
scrotum and testes and erections with
ejaculation. Early growth in both sexes is
rapid so that they are larger for their ages
but, due to early closure of epiphyses, turn
out ultimately shorter than their peers.
Causes:
l
l
The basic cause is premature
activation of the hypothalamicpituitary-gonadal axis (HPG axis). In
true or primary precocity it is due to
'removal
of
normal
inhibitory
influences' which allow a faster pace of
development of puberty. Mostly
considered idiopathic, now it is
believed that careful evaluation may
reveal a cause. The causes of true
precocity could be idiopathic/familial,
congenital anomalies of the brain,
CNS tumors, post inflammatory
(meningitis/encephalitis) or following
trauma
The other group is peripheral or
pseudo precocity. This is the result of
over activity of adrenals or gonads
resulting in precocious puberty,
Precocious Puberty
l
including tumors in adrenals, ovaries
or testes. Some causes are gonadal
tumors, adrenal disorders (congenital
adrenal
hyperplasia,
CAG),
administration
of
sex
steroids,
McCune-Albright syndrome.
In addition to the central and
peripheral causes some variants, of
incomplete or partial forms of
precocious puberty, also occur. For
instance premature thelarche i.e.
premature development of breasts
only;
premature
adrenarche
or
pubarche; and premature menarche.
These
variants
are
otherwise
associated with normal growth.
Diagnosis:
As for delayed puberty, diagnosis is
made from history, clinical examination and
lab investigations. These include imaging
studies as for delayed puberty and
hormonal assays (head scans, pelvic
ultrasound etc for intracranial or gonadal
pathology). Important tests are serum
estradiol estimation in girls and testosterone
in boys, progesterone in menstruating girls;
thyroid profile (for hypothyroidism), plasma
dehydroepiandrosterone
(DHEA)
to
determine if adrenarche has started.
Management:
This aims at stopping pubertal
development to ensure near adult height
(with the help of appropriate hormonal
medicines). The indications of medical
management are evidence of not reaching
adult height, early menarche (< age 6
years) or severe psychological distress of
parents or children and for social reasons
Medical
management
includes
antigonadotrophic and antiandrogenic drugs
(medoxyprogesterone cyproterone acetate).
This is accompanied by sex education and
counseling
parents
regarding
the
psychosocial
issues
associated
with
precocious puberty. Underlying cause of
pseudo precocity (peripheral) should be
identified and treated. Several medications
are available. Such treatment needs expert
management by a pediatric endocrinologist.
Surgical treatment may be required to
remove tumors of the ovary, testes or
adrenals.
177
8
Constipation
Constipation can be defined as
passage of small, infrequent, too hard or dry
stools. However, one must appreciate
normal variation in frequency and
consistency before starting treatment.
Absolute constipation indicates absence of
evacuation of feces and flatus and is due to
intestinal obstruction from congenital or
acquired conditions. Since this is a surgical
emergency, it needs urgent attention. Most
common symptom of absolute constipation
is vomiting with abdominal distension. (see
under 'vomiting' on page 180)
The
causes
constipation are:
l
l
l
of
non
l
l
surgical
Dietetic: Insufficient intake of water,
food and fluids and diet rich in
proteins causes constipation and is the
result of non residual cellulose low
diet. Babies whose diet is exclusively
milk and whose weaning on semisolid
feeds are delayed, have constipation.
Training: Neglect of bowel training,
postponing or neglecting bowel
evacuation, may lead to chronic
constipation. In school going children,
hurry to school in the morning or for
play may lead to habitual failure to
attend to toilet, passing off of the call
and consequent constipation. Poor
housing conditions with dark toilets
may result in hesitation to use them
and consequent constipation.
Fissure in ano or any painful condition
of the anorectal region may cause
constipation from fear of pain during
defecation and postponement of the
event causing further accumulation in
the rectum. This leads to further
absorption of water by the gut from
l
the stool further hardening it thus
causing a vicious circle. An anal fissure
can therefore be both cause and result
of constipation.
Abdominal and intestinal muscle tone
can be poor in malnutrition, prolonged
illness. Perhaps hypothyroidism causes
constipation for the same reason.
Comatose patients, with meningitis,
encephalitis or any cause suffer from
constipation from lack of voluntary
effort to evacuate bowel. For the same
reason mentally retarded children may
have constipation- from lack of effort
or toilet training.
Mechanical causes of constipation can
occur from congenital or acquired
conditions. Among congenital causes
are stenoses at any site, long sigmoid,
congenital megacolon (Hirschsprung's
disease). Among acquired conditions
are spasm of anal sphincter from
hemorrhoids and fissure ('habit
megacolon')
Megacolon: This condition can be
congenital or acquired.
(a)
In the congenital type, (Hirschsprung's
disease) a segment of the intestine,
usually the terminal colon lacks
parasympathetic ganglion cells from
the intramural plexus, from birth.
Absence of these cells results in
absence of peristalsis in the affected
part of the intestinal segment so that
fecal matter stops short just proximal
to this aganglionic area in the normal
portion of the gut. Non propulsion of
fecal
matter
further
causes
constipation and consequent dilatation
(b)
(c)
of this (normal) segment. The
unopposed sympathetic action in the
affected segment causes contraction of
this section. The diagnosis is made
from the history of constipation from
early infancy. Rectal examination
shows a narrow empty segment of the
intestine felt by the finger since the
fecal matter is collected in the normal
colon above the narrow affected
section felt by the finger. Confirmation
is made from barium enema in head
low position, by passing only the tip of
a catheter into the rectum and slowly
letting barium enter the colon. It shows
a narrow segment for a small distance
and a distended colon above giving
the 'rat tail' appearance. Rectal biopsy
showing absent ganglion cells in the
affected segment further confirms the
diagnosis. Treatment is surgical
resection of the narrow segment
completely. To make sure that the
aganglionic
section
is
removed
completely, a small portion of the
normal
intestine
next
to
the
aganglionic cells is also resected thus
ensuring that constipation does not
recur.
Treatment
Constipation should not be presumed
from parents' complaint but ascertained
from careful interrogation. In many parts of
India parents are traditionally very bowel
conscious and believe that many illnesses
are due to incomplete evacuation of the
bowels. Therefore laxatives and purgatives
are used to 'clear the system'.
Enquiries should be made regarding
the actual diet consumed by the child and
appropriate corrections made, for example,
increased amount of fluids, sugar, fruit juice,
vegetables and other solids. A child on
exclusively milk diet may have constipation
and a mere introduction of solids may
correct the constipation.
Anal fissures are treated by using a
safe laxative like lactulose daily at bedtime,
together with application of an anesthetic
ointment or gel like xylocaine, to the anal
margin to relieve pain during defecation. In
a few weeks the fissure heals and relieves
the symptoms. In anal stenosis gentle daily
dilatation may be required over a period of
time.
Habitual constipation is treated by
toilet training together with psychological
management.
In
some
cases
toilet
arrangements, like site of the toilet, type of
seat and other arrangements may have to
be altered to suit the child.
Acquired megacolon results from faulty
or
absence
of
toilet
training.
Accumulation of fecal matter in the
rectum considerably dilates it in the
distal region in course of time resulting
in what is called the 'terminal
reservoir'. In this condition, the rectal
examination reveals a loaded colon in
contrast to the empty colon in the
congenital type.
In emergencies and as a temporary
measure, a suppository or a glycerin enema
may be required to give immediate relief but
these measures should not used habitually.
Strong laxatives and purgatives should be
avoided. Drugs are reserved for difficult
cases and those recommended are Milk of
magnesia or liquid paraffin at bedtime.
Constipation of hypothyroidism is corrected
as thyroid hormone is started.
A third type of megacolon, also
acquired, results from a mechanical
cause such as anorectal stenosis or
stricture following surgical correction
of an imperforate anus.
179
9
Vomiting is forceful expulsion of gastric
contents through the mouth and is usually
accompanied by vigorous contractions of
the abdominal muscles.
'Regurgitation'
is
non-forceful
expulsion of food and secretions from the
oesophagus or stomach through the mouth
not accompanied by nausea or forceful
contractions
of
abdominal
muscles.
Regurgitated milk is usually unaltered.
Nausea is a feeling of inclination to
vomit.
Retching is the effort to vomit, short of
expulsion of gastric contents and may be
considered an abortive attempt to vomit.
Rumination (or merycism) is the term
used to describe a habit of bringing up semidigested food and chewing it again. This is
usually done by cattle and is referred to as
'chewing the cud.' Some infants who
develop this habit are able to regurgitate the
feed at will and then chew it again. It can in
some situations be a serious psychological
disorder resulting in failure to thrive.
The control of vomiting
It rests in the vomiting centre present
in the reticular formation in the medulla.
Afferent impulses may arise from the G.I.T.,
biliary
tract
vestibular
apparatus,
genitourinary tract, heart etc. Apart from the
vomiting centre there is a "chemo receptor
trigger zone" (CTZ) on the surface of the
medulla through which certain drugs like
emetics and some metabolites act on the
vomiting centre.
Etiology
Causes of vomiting in infants and
children are diverse and numerous and can
vary from faulty techniques of feeding and
parental anxiety to serious organic disorder.
A carefully carried out interrogation of
Vomiting
mother, clinical examination of the infant and
a period of observation will frequently point
to the cause of vomiting but investigations
may be necessary in some cases.
Interrogation and examination in a
case of vomiting should include symptoms
and signs relating to almost all the systems
in the body including surgical conditions, in
view of its multiple causes. The nature of
vomits should be carefully observed and
may be a pointer to etiology of vomiting.
Pure mucous may indicate obstructive lesion
proximal to the stomach such as in
esophageal stenosis, atresia or cardio
spasm. Unaltered milk also indicates same
level or lesion for e.g. Chalasia cardia (i.e.
persistent relaxation of the cardia).
Coagulated milk not stained with bile
suggests obstruction proximal to ampula of
water; if bile stained, it is distal to the
ampula; fecal vomiting occurs when
obstruction is in the lower gut. Blood mixed
vomits, apart from indicating bleeding from
the mucosa, may result from swallowed
blood of epistaxis or in the case of a new
born - swallowed maternal blood; in gastric
ulcer vomits may be coffee colored.
Etiologically,
vomiting
may
be
classified into three main groups:
1.
Mechanical: Obstructive lesions of the
alimentary tract, usually congenital
during neonatal period and early
infancy and acquired in later life.
2.
Reflex
vomiting:
resulting
from
irritating afferent stimuli (inflammatory
or other) from the viscera, urinary and
gastrointestinal tracts, labyrinth etc;
from allergy to milk or certain foods
and drugs; metabolic disorders like
uremia,
diabetic
acidosis,
hypoglycemia
and
endocrine
disturbances like hypocorticalism.
3.
Central vomiting: through irritation on
stimulation of the vomiting centre as in
raised
intracranial
tension,
inflammatory lesions of CNS for e.g.
meningitis, encephalitis, epilepsy, and
epileptic equivalents like migraine and
cyclic vomiting, drugs and poisons and
psychogenic causes.
l
The same etiologic factor may produce
vomiting for more than one reason for
example. a drug may act locally by irritating
the stomach and the vomiting centre.
In the following pages, conditions
associated with vomiting have been
discussed in relation to age, beginning with
the newborn, and going on to infancy and
childhood. This approach is useful as far as
it helps the physician to visualize the
possible cause in relation to age. Age factor
also helps to limit the etiologic possibilities
to fewer, more probable conditions.
Vomiting in the newborn: (see also
section on newborn)
1.
l
Surgical causes in the newborn:
Esophageal atresia (with or without
tracheoesophageal fistula). When the
middle portion of the esophagus is
missing because of a developmental
defect, the upper segment is blind. The
lower segment may also be blind.
Usually, however, esophageal atresias
a
b
are
associated
with
a
tracheoesophageal fistula. The defects
are shown in the figures below in order
of frequency with which they are seen.
The commonest type is shown in
(Fig. 37a): The upper esophageal
pouch
is
blind;
the
lower
communicates with the trachea. The
clinical picture has the following
characteristics: baby brings out large
amounts of saliva that collects in the
upper segment of oesophagus. It may
collect and then overflow into trachea
causing
choking.
Diagnosis
is
confirmed by (i) A rubber catheter
passed through the nose stops at the
blind upper sac. (ii) This catheter can
be visualized during fluoroscopy. A
radio opaque substance introduced
through the catheter will reveal the
blind sac. Iodized oil (not barium) is
used, in a small quantity not exceeding
½ ml. to avoid danger of aspiration.
The
second
commonest
type
(incidence about 8%) is one with both
upper and lower segments blind
(Fig. 37b). There is no fistulous tract
between oesophagus and trachea.
Clinical picture is same as in the first
type described above and diagnosis is
confirmed in the same manner.
However, the distinguishing features
c
Fig. 37 : Types of esophageal atresia and tracheo-esophageal fistula
181
d
l
l
to avoid gastric reflux into trachea and lungs
in the event of a possible communication of
lower segment with trachea. The transit time
should however be minimized since
otherwise dehydration may result.
are absence of air shadow in the
stomach and intestines in X-ray of the
abdomen. This is because no air can
enter the stomach and intestines.
In a third, variety (Fig. 37c) there is no
atresia of the oesophagus but there is a
fistula communicating between it and
the trachea. Vomiting occurs because
of collection of secretions in the
oropharynx. Diagnosis can only be
made radiologically, using contrast
media and by endoscope.
Surgical
treatment
consists
of
establishing continuity of lumen from mouth
to stomach. Often, however, the length of
the esophageal segment is too short to be
brought
into
continuity.
Frequently,
therefore, surgeons carry out a gastrostomy
after ligating the cardiac end of esophagus
and exteriorize the upper blind segment as a
first step followed subsequently by a second
step in which a colonic or jejunal transplant
is used to bring about continuity of lumen.
In the forth, rarest variety, (Fig. 37d),
the lower segment is blind and the
upper communicates with trachea.
This is a serious anomaly because the
child drowns in the very first feed and
saliva enters directly into the trachea.
X-ray abdomen shows absence of air
shadows as in the second type
described above, since the lower
esophageal segment is blind and no air
can enter the gut.
2.
Treatment
3.
Most fatalities from these anomalies in
underdeveloped regions result from delay in
seeking treatment. The babies can only be
saved if diagnosis is made on the first day
and surgical treatment carried out promptly.
Thus, prompt diagnosis and appropriate
facilities for immediate thoraco abdominal
surgery are necessary for preventing
fatalities. For prompt diagnosis, it is
necessary for medical and paramedical
personnel to be aware of the condition so
that immediate recognition is possible. Any
baby, drooling excessively at birth and
choking on being fed must be subjected to
the catheter test. If positive, he should be
promptly referred to a hospital where
appropriate surgical facilities are available.
During transit, no oral feeds should be
given, the upper pouch of oesophagus
should be constantly drained through an in
dwelling catheter, and the baby kept upright
Esophageal stenosis: this consists of a
narrowing, usually of the distal third of
oesophagus. Often there is no
difficulty with liquids feeds, so that
vomiting and difficulty in swallowing is
observed with first solid feeds. If
severe, stenosis may cause vomiting
even with liquids.
Achalasia and Chalasia cardia: The
term 'Chalasia' refers to relaxation.
Chalasia is therefore, persistent
relaxation of the cardioesophageal
region. Achalasia, in contrast refers to
absence of relaxation or cardio spasm.
Both are abnormal since relaxation
should neither be persistent nor absent.
Achalasia is characterized clinically by
effortless vomiting particularly in lying
position, starting during the first week
of life. Diagnosis is confirmed by the
barium swallow study under screening.
Abdominal pressure shows reflux of
barium from stomach into oesophagus.
Treatment consists of feeding the baby
in upright position and maintaining in
that position for a few hours. To
prevent vomiting thickened milk feeds
are preferred.
Achalasia : This consists of spasm of
182
the lower esophagus or cardia. Clinically,
the infant has difficulty in swallowing
regurgitation of unaltered milk and cough, if
there is overflow into larynx. Barium
swallow under screening shows barium
shadow terminating into a narrow point.
Treatment consists of dilatation of the cardia
by bougies. In severe cases, surgical
treatment (esophago-cardial myotomy etc.)
may be required.
4.
5.
Hiatus Hernia: (Fig. 38) A short
esophagus results in part of the
displacement
of
the
esophagus
upwards into the thoracic cavity.
Symptoms are due to the stenotic
cardia of the stomach, the stenosis
resulting
from
cardio-esophageal
reflux.
Dysphagia,
vomiting,
or
regurgitation, followed by malnutrition
and attacks of esophageal obstruction
characterize the clinical picture.
Barium meal shows a structure in the
mid thoracic region. Treatment consists
of feeding the child in an upright
position and maintaining this position
after feeds. Stenosis is treated by
dilatation.
6.
Diaphragmatic hernias: These result
from congenital defects in the
diaphragm so that the stomach,
intestine and in severe cases even
spleen, liver and kidneys may displace
and compress the lung. The defects are
usually left sided. Associated with the
defect may be incomplete rotation of
the gut and constricting bands, which
may cause symptoms of intestinal
obstruction. Diagnosis is made from
auscultation of intestinal sounds over
the left chest due to peristaltic waves
in the thorax and absent breath
sounds. The abdomen is scaphoid
because of displacement of some of its
contents into thorax. Recurrent
respiratory symptoms may occur.
Confirmation is made from a plain Xray of the chest showing loops of
intestine in the thoracic cavity
confirmed by barium meal studies
done in Trendelenburg (head low)
position. Treatment of diaphragmatic
hernia is surgical.
Congenital upper intestinal obstruction :
Obstructive legions of the upper gut, are
due to duodenal or upper intestinal
atresia or to obstructions from
congenital bands, superior mesenteric
artery etc. in a group of symptoms
consisting of (a) vomiting starting soon
after birth, often projectile, bile stained.
Aspirated contents of stomach exceed
15 ml. in quantity. (b) peristaltic waves
appearing soon after a feed or before a
bout of vomiting and observed in left to
right direction (as in hypertrophic
pyloric stenosis) in the epigastric region,
(c) frequent epigastric distention
relieved by vomiting. Like esophageal
atresias, high intestinal obstructions are
usually associated with history of
polyhydramnios in the mother.
Treatment is surgical. Incomplete
upper
gut
obstructions
e.g.
pylorospasm,
duodenal
stenosis,
constricting bands etc. may result in
vomiting, constipation (not absolute)
and distention soon after birth or these
symptoms may sometimes be delayed.
Fig. 38 : Hiatus hernia
183
7.
8.
more frequently occurs in the first
born, male child.
Congenital lower gut obstruction :
Vomiting is an essential clinical feature
of all obstructive intestinal lesions.
However, unlike upper gut obstruction,
vomiting sets in later (in a day or two
rather than in hours), is bile stained or
fecal, is accompanied by more
generalized
abdominal
distention
(including that of the flanks) and
absolute constipation - even though
some meconium may be passed from
the
lower
segments.
Ano-rectal
anomalies are commonest causes of
obstruction. Other less common are
atresia, stenosis, meconium ileus, and
midgut volvulus, constricting bands,
internal herniation and duplication. It
is not possible to diagnose anatomic
nature of an obstructive lesion
clinically and in any case, this is not of
primary
importance
since
the
abdomen has to be opened urgently.
Nevertheless it is desirable, as far as
possible to locate the lesion before
operation and plan an appropriate
surgical approach.
The clinical picture is characterized by
vomiting beginning in the 2nd or 3rd weeks
of life and becoming projectile. It follows a
feed and the vomitus consists of gastric
contents, which are not bile stained but
occasionally blood stained. Absence of bile
distinguishes the condition from duodenal
obstruction.
Constipation
is
present,
Peristaltic waves from left to right are usually
seen in the epigastric region, soon after a
feed or just before vomiting. Weight loss
and even dehydration may occur from
repeated vomiting. The hypertrophied
pylorus is palpated as a 'tumor', 1cm. in
diameter just lateral to the rectus
abdominals muscle, midway between the
umbilicus and the costal margin, with the
infant lying in the right lateral position. In
premature infants, symptoms are often not
characteristic. Some infant are known to
develop jaundice for reasons that are not
clear.
Diagnosis needs to be confirmed radio
logically only in doubtful cases through a
barium meal study. There is delayed gastric
emptying time and "string sign" or "rat tail"
appearance of barium resulting from the
blunt barium shadow with a thin streak
emerging from it towards the pylorus.
Congenital
hypertrophic
pyloric
stenosis : (Fig. 39) In this condition,
the
circular
fibers
of
pyloric
musculature
are
hypertrophied,
resulting in constriction of the lumen of
the pyloric canal and therefore,
impediment to gastric emptying. The
cause is unknown and the condition
Hypertrophic Pyloric Muscle
Congenital
hypertrophic
pyloric
stenosis can readily be distinguished from
other causes of vomiting in the neonatal
period by its characteristic clinical pattern
particularly the age of onset of vomiting, its
projectile nature, the palpable "tumor",
constipation, and gastric peristaltic waves.
Treatment of pyloric stenosis is surgical
but in view of close similarity with
pylorospasm, an initial trial with medical
treatment is indicated. This consists of
offering thickened feeds or breast feeds,
fluid and electrolyte therapy and anti-
Stomach
Fig. 39 : Hypertrophic pyloric stenosis
184
spasmodic. However, such treatment should
not be continued longer than a few days,
particularly if results are poor or if the baby
is rapidly losing weight or is dehydrated.
3.
Surgical treatment consists of splitting
the circular muscles fibers of the pylorus so
that pyloric mucous membranes, which was
thrown into multiple folds, now herniates
and relieves the obstruction (Ramstedt's
Operation)
Vomiting during infancy
and early childhood
(b)
2.
While some of the conditions listed
have been dealt with elsewhere other
common causes of vomiting met with in
practice during infancy and childhood are
discussed here:
Mechanical
(a)
Central : Lesions of the vomiting
centre or its vicinity. These lesions may
be
inflammatory
(meningitis,
encephalitis),
neoplastic,
vascular
(hemorrhage, thrombosis), traumatic,
raised intracranial tension, emotional
disturbances, fear hysteria, epilepsies
and epileptic equivalents like migraine
and cyclic vomiting, drugs, poisons
and metabolites acting on the centre.
A certain degree of overlap in the
etiologic conditions enumerated above may
occur in the neonatal period and some
neonatal conditions causing vomiting may
continue into infancy.
As age advances, possibilities of
vomiting as a symptom of congenital
obstructive
anomalies
diminish.
The
etiologic spectrum now widens and shifts to
acquired conditions, which may be grouped
as under:
1.
drugs and poisons, allergy to drugs
and milk allergy.
Obstructive: Ascariasis, paralytic
ileus intussusceptions, bands,
cysts and tumors.
1.
Non-obstructive: - Overfeeding,
aerophagy, hurried or forced
feeding.
(For obstructive lesions see under
'acute abdominal pain and
constipation).
Reflex
vomiting
and
metabolic
conditions : Because of afferent stimuli
acting on the vomiting centre. These
stimuli
may
arise
from
the
gastrointestinal tract (inflammatory
lesions of the gut, liver, biliary
passages for e.g. gastritis, enteritis,
hepatitis, peritonitis, appendicitis);
urinary tract (nephritis, pyelitis,
cystitis, renal calculi etc); respiratory
tract (URI, otitis, tonsillitis, adenoiditis,
bronchitis, laryngitis); labyrynthitis;
motion sickness, sea sickness, altitude
(air) sickness; metabolic conditions
(hypoglycemia, uremia, acidosis);
2.
185
Aerophagy: Swallowing of air occurs
normally during feeds, breast or bottlefeeds. If too much is swallowed, it may
be eructated along with some milk the
child has taken, if the child is put to
bed soon after a feed. To prevent this,
the mother should be taught to "burp
the baby". This is done by holding the
baby upright in the lap against the
shoulder and his back gently patted or
rubbed for about five minutes. The
swallowed air is belched out without
bringing up milk. Swallowed air often
enters the small intestines if it is not
eructated and causes abdominal
distention and colic.
Hurried forced or over feeding :
Feeding during excitement and fearful
situations, often results in vomiting.
This is often due to reflex contraction
of the stomach and to swallowing of
air during hurried feeding or over
feeding.
3.
4.
Meningitis and encephalitis result in
vomiting particularly in the early stages and
the symptoms is often accompanied by
headache, drowsiness, convulsions, and
signs of meningeal irritation.
Reflex vomiting and vomiting due to
metabolic or visceral conditions:
Common causes observed in practice
are (a) sore throat, tonsillitis,
whooping cough, posterior nasal drip
irritating the pharyngeal mucous
membrane and producing a 'gag
reflex'.(b) infective hepatitis and
amoebic hepatitis, acute gastritis and
gastroenteritis.
(c)
urinary
tract
infection.
(d)
appendicitis
and
peritonitis (e) sickness from altitude
(airsickness),
motion
(car,
sea,
swinging sickness) (f) metabolic
conditions, commonly encountered
being hypoglycemia, uremia and
acidosis (also referred to as "toxic"
vomiting). (g) accidental poisoning by
ingesting poisonous material.
5.
Vomiting resulting from intracranial
space occupying lesions is projectile
and is not preceded by nausea. It is
associated usually with headache.
Papilledema may be present and the
patient may have a squint, before
unequivocal localizing neurological
signs appear. Between the bouts of
vomiting, the patient is free from
nausea and appears apparently
normal. If the fontanels are open, it
would feel tense.
A condition, which may closely
simulate an intracranial space occupying
lesions,
is
"benign
intracranial
hypertension". Raised intracranial tension
occurs in the absence of an intracranial
space-occupying lesion and is transient.
Etiology is vague. Some cases are
associated with otitis media or venous sinus
thrombosis.
Transient
intracranial
hypertension also develops during therapy
with tetracycline, nalidixic acid, and high
doses of vitamin A and during withdrawal of
steroid therapy. A prominent feature of all
conditions enumerated above is vomiting,
usually projectile.
6.
186
Cyclic vomiting: This is not a disease
entity but a symptom complex whose
etiology is not always clear. It is
characterized by attacks of vomiting
lasting a few days with tendency to
recurrence ('cyclic'). An attack is often
triggered off by an infection, emotional
factor of fatigue etc. and is either
preceded by general symptoms of
malaise before vomiting begins or in
some
instances
vomiting
starts
suddenly without any prodromal
warning signs. During the attack,
vomiting is almost incessant, the
vomitus initially consisting of food,
followed in succession by mucous, bile
and bloodstains. Vomiting is almost
projectile and is associated with
headache, abdominal pain and a
coated tongue. Ketosis develops from
starvation and depletion of glycogen.
Frequency of attacks diminishes with
age and in later life is sometimes
replaced by attacks of migraine.
Etiology has variously been related to
emotional or psychological factors.
Some authorities believe this to be
equivalent of epilepsy or of migraine.
Treatment of attacks consists of
correction of ketosis, I.V. glucose and
saline, restricted oral intake confined
to sips of iced drinks antiemetics and
sedation. During the attack-free
interval, psychiatric treatment is
instituted.
Vomiting can occur as a manifestation
of hysteria or of behavior disorder.
The
management
is
essentially
psychiatric. Diagnosis is suspected if
episodes of vomiting are associated
with an emotional factor and if all
organic disorder are excluded.
Diagnosis can often be made by
eliciting a careful history, carrying out a
careful
physical
examination,
and
confirming by appropriate investigations.
The combination of signs and symptoms
often gives a clue to diagnosis. For example
vomiting associated with loss of appetite,
jaundice, pale stools, and upper abdominal
pain due to the tender enlarged liver would
commonly indicate infective hepatitis.
Vomiting in an ill looking child with some
fever and acute abdominal pain and
tenderness with leucocytosis suggests acute
appendicitis. This is often diagnosed late in
infancy and early childhood, often by the
time a lump is already formed in the right
iliac region. If severe diarrhea with or
without blood and mucous accompany
vomiting, this is most likely to be due to
gastroenteritis. In a diabetic child or insulin
therapy vomiting with convulsions could
indicate hypoglycemia. Vomiting with
fainting in a school-going child, particularly
after physical exercise or at the fag end of
school
hours
could
result
from
hypoglycemia from long hours of starvation
after the last meal. In newborn infants,
convulsions may occur for the same reason
if feeding is not initiated soon after birth.
Individual
conditions
are
discussed
elsewhere under other signs and symptoms.
Treatment of vomiting
The
essential
management include:
1.
principles
2
upper respiratory or urinary tract
infection or of meningitis and so on. It
is essential therefore, that the cause be
found and treated.
Drugs: Vomiting can be controlled
either by depressants of the central
nervous system (sedatives), by drugs
which
act
by
depressing
the
chemoreceptor trigger zone in the
vicinity of the vomiting centre
(phenothiazine), or by sedatives of the
gastric mucous membrane acting
locally
(chloral
hydrate
and
derivatives). Antihistaminics such as
promethazine can prevent vomiting
resulting from disorders of the
vestibular or labyrinth apparatus such
as in motion sickness etc.
l
l
l
3.
of
Treating the cause of vomiting : This
may, for example, involve surgical
intervention in intestinal obstruction,
psychiatric
treatment
in
cyclic
vomiting, correction of faulty feeding
techniques in infants, treatment of an
187
Domperidone does not cross the
blood-brain barrier and is
therefore most often used.
Phenothiazines
have
extra
pyramidal side effects like
dystonia, including abnormalities,
mask facies, salivation, and
oculogyric crises in children.
Serotonin
antagonists
like
Ondansetron, are also used
frequently for nausea and
vomiting particularly in vomiting/
nausea of post radiation therapy.
Stomach wash: Although it may sound
old-fashioned, experience has shown
this to be sometimes useful particularly
in infants. No specific conditions that
benefit from this procedure can be
enumerated,
generally
however,
vomiting
with
diarrhea,
gastric
irritation, accidental poisoning, and
often an indeterminate cause of
vomiting respond to a stomach wash.
10
Diarrhea has been defined as "an
abnormal frequency and liquidity of fecal
discharge". It must be considered as the
reaction of the bowel to a large number of
etiologic conditions. It is therefore, not a
disease entity but a symptom of a number
of disorders. For the same reason the term
'gastroenteritis' is not used since it only
represents a group of inflammatory
conditions. Terms such as lienteric diarrhea,
green diarrhea, summer diarrhea, teething
diarrhea etc. should as far as possible be
avoided since some of them are obsolete,
others are confusing or vaguely used and
some misused. Teething, for instance does
not cause diarrhea by itself.
Diarrhea, anywhere in the world, is
the largest cause of morbidity among
children and together with its complications
viz. fluid and electrolyte disturbance, one of
the biggest causes of mortality.
Diarrhea
2.
3.
Diarrhea in developing regions:
Diarrhea is particularly dangerous in
developing regions of the world for a
number of reasons:
1.
Infants and young children who are
malnourished
are
particularly
susceptible to recurrent attacks of
diarrhea. This has been shown to be
statistically significant in several
studies. When the child graduates from
breast feeding to top feeding, the
diarrhea that occurs soon after this
period carries higher mortality than
that preceding it when the child is
thriving well on the breast or later
when the infant is on adequate adult
diet. The increased susceptibility to
diarrhea in malnourished children has
been attributed to the effect of under-
4.
nutrition on thymus (resulting in
diminished cellular immunity) and on
intestinal epithelial changes consisting
of reduced growth of epithelial cells
and diminutions of the enzymes
secreted, particularly lactase, causing
lactose intolerance and diarrhea.
Water supply, particularly in rural
areas is insufficient and contaminated.
The source of water, mode of transport
and of storage are all conducive to
infection and diarrhea. However,
providing a clean source and plentiful
supply of water alone may not be
sufficient
to
prevent
diarrhea.
Transport to, and storage at home is
also important.
The traditional practice of starving an
ill child, particularly one suffering from
diarrhea,
makes
this
condition
potentially serious. Insufficient fluid
and
milk
intake
precipitate
dehydration and complicate electrolyte
and acid base disturbances.
Delay in seeking treatment or delayed
hospitalization result from lack of
appreciation of seriousness of diarrhea
and dehydration by poor and
uneducated rural mothers. Diarrhea is
often attributed to 'teething' or some
such reason so that treatment is sought
when it is too late and dehydration has
become irreversible. At this stage,
when the child looks serious,
hospitalization is avoided for fear of
death occurring on the way or in the
hospital. In India, most uneducated
parents especially in rural areas, would
like the child to die 'peacefully' at
home among friends and relatives.
milk intake promptly changes the
color frequency and appearance
of the stools. Starvation and
antibiotics worsen with resultant
marasmic malnutrition.
Etiology:
An etiologic classification that has
been generally described in the textbooks is
somewhat like this:
1.
Causes within the gut
l
l
l
l
l
2.
Infection.
(Viruses,
protozoa, fungi.)
Looking for an organism as the
causative agent in every child suffering from
diarrhea is expensive and a fruitless exercise
for the following reasons:
bacteria,
Local disorders like ulcerative
colitis,
acute
appendicitis,
regional enteritis etc.
l
Malabsorption as in celiac
disease, fibrosis, malnutrition,
disaccharides,
lactose
intolerance.
Misuse
of
laxatives
purgatives, poisons, drugs.
Dietetic diarrheas:
food, allergy.
l
and
l
unsuitable
Causes outside the gut
l
l
l
l
Infection elsewhere in the body.
This is not believed to be
causally related to diarrhea but in
fact part of the illness, having the
same cause. The term 'parenteral
diarrhea' should therefore be
avoided as it appears to indicate
that an otitis media or an
infection elsewhere is responsible
for the diarrhea.
There is poor correlation between
severity of diarrhea and the frequency
with which a pathogen is discovered in
the stool.
As many a 12 percent children with
normal stools may show a bacterial
pathogen.
With the most sophisticated equipment
not routinely available, not more than
40 percent diarrheal stools will yield
an etiologic agent.
Diarrhea often makes apparent a
pathogen that had already been
present before the episode.
The commonly encountered infections
in developing regions are:
l
l
Metabolic
and
endocrine
diseases viz. hyperthyroidism,
Addison's disease.
l
Emotional disturbances: A kind
of 'diarrhea' is often seen among
infants: greenish, slimy stool,
small in quantity, passed several
times (10 to 20 or more) during
the day, usually after a feed. The
cause can be under feeding from
failure of lactation or from small
and/or
diluted
milk
feeds.
Correction of diet and improving
189
Bacilli: Shigella (Flexner group),
pathogenic E coli and less frequently
Salmonellae, Proteus and cholera.
Amebiasis is more frequent cause of
diarrhea in older children as also
Giardiasis which frequently, occurs in
younger children also.
Although virus infections, such as
measles
and
poliomyelitis
are
associated with diarrhea, others,
particularly Rota virus, are causally
related. HIV should always be kept in
mind if diarrhea is chronic, recurrent
and associated with severe wasting.
The diarrhea in measles, for instances,
is due to the enanthem (the mucous
membrane
lesion
in
the
gut
epithelium).
Complications of Diarrhea
By itself diarrhea is not serious, but
the loss of fluid and electrolytes, in the loose
watery stool and vomitus is life threatening.
In addition, other complications may set in,
which too need urgent attention. The young
child
is
particularly
susceptible
to
dehydration since water makes up greater
proportion of his body composition than
solids compared to adult (60 to 80 per cent
body weight is water in children and 50
percent in adults). The poor concentrating
capacity of the kidney further complicates
the picture in view of its inefficient
adjustment to fluid and electrolyte
imbalance. The complications if diarrhea
with or without vomiting are:
3.
4.
(d)
and
Lactic acid accumulation due to
tissue anoxia
Replacement
of
intracellular
potassium by sodium with
consequent loss of potassium
Starvation ketosis occurs due to
insufficient intake and loss of blood
from the gut. As glycogen stores are
exhausted, fats are broken down to
provide alternate source of calories.
Such breakdown of fats causes ketosis
since ketoacids are products of fat
metabolism.
l
Fever, if diarrhea is infective and
excessive loss from sweating.
l
As a result, of above derangements the
following ensue:
2.
Inability of kidneys to excrete
acid
metabolites
due
to
diminished renal blood flow
Lowered plasma bi-carbonate (normal
= 27 mEq kg/ liter): This results from
Pathophysiology of dehydration:
1.
Insufficient intake
Ketosis from tissue breakdown
Metabolic Acidosis
Insufficient intake of fluids and food.
water
(c)
(f)
Excessive loss of fluid and electrolyte
in the diarrheal stools and vomitus.
Continuous loss of
electrolytes in urine.
Loss of bicarbonate in the stools
(e)
Causes:
(c)
(a)
(d)
The term denotes not only deficiency
of fluid but also electrolytes. The proportion
of one over the other may predominate.
(b)
Acidosis due to:
(b)
Dehydration:
(a)
toxins.
l
Decreased blood volume and intestinal
fluid: Anhydremia and circulatory
insufficiency leading to tissue anoxia
and diminished renal function.
Reduction in bicarbonate from its
loss in diarrhea stools.
Accumulation of ketoacids from
starvation and lactic acid from
tissue breakdown and hypoxia
Retention of acid metabolites by
kidney
Clinically, the infant develops hyperventilation (Kussmaul breathing) i.e. deep
sighing breathing. This is a compensatory
mechanism to get rid of carbon dioxide
through the lungs (H2CO 3 = H2O + CO2) so
that ultimately carbonic acid excess causes
metabolic acidosis. Acidosis is corrected by
the use of alkali such as sodium lactate or
bicarbonate. (See under management).
Shock: Inability to maintain normal BP
may be due to cardiac insufficiency
resulting from potassium deficiency,
decreased coronary blood flow,
acidosis, and myocardial damage from
190
loss through skin (insensible perspiration)
without proportionate loss of electrolytes.
Clinically,
hypertonic
dehydration
is
associated with marked thirst, oliguria,
asthenia and high fever. Infants are usually
susceptible to this type of dehydration in
view of poor concentrating capacity of the
kidney so that passage of dilute urine results
in diminished excretion of electrolytes.
Disturbances of Potassium
(Normal range 3.8 - 6 mEq/liter)
Gastrointestinal secretions normally
contain considerable amounts of potassium,
almost same concentrations as that in
plasma. Ordinarily, this ion is reabsorbed
from the gut into the plasma but in diarrhea,
considerable amounts may be lost in the
stool. Other causes of hypo-potassaemia are
acidosis and administration of potassiumfree solutions such as those containing
glucose, sodium, and chloride only.
Although hypo-potassaemia is more frequent
in diarrhea, excess potassium can sometimes
occur in diarrhea with dehydration when
release of potassium from cells (because of
its replacement in the cell by sodium) is more
rapid than its excretion in urine due to
oliguria, peripheral vascular collapse or
diminished extra cellular fluid volume.
Disturbances of calcium
(Normal range 8.5 to 11.5 mg/100ml
or 5.1 to 5.4 mEq/ liter).
In diarrhea calcium, depletion occurs
because of:
l
l
l
decreased
ingestion
and
absorption
loss in diarrhea stool
Increased excretion in urine
persistent hyper electrolytemia.
To replenish the depleted calcium of
extra cellular space, calcium from bones
moves into this space. Therefore during the
acidosis phase, initially symptoms of
hypocalcaemia do not develop. It is during
the 'post acidosis' phase, when restoration
of fluids and electrolytes has been done,
that symptoms of hypocalcaemia (tetany)
develop. Infants are particularly susceptible
to disturbances of calcium because of its
active metabolism at this age and its poor
absorption during diarrheal disorders.
Disturbances of sodium and chloride
(Normal sodium: 134 - 141 mEq/L;
Chloride 105 - 109 mEq/L):
Losses of these electrolytes in
diarrheal stools are considerable and their
replacement in dehydration a matter of
urgency. Sodium and chloride are essential
electrolytes of extra cellular fluid and
maintain osmotic relationships between the
body fluids. Kidneys are mainly concerned
with their re-absorption.
Decreased concentrations of sodium
and chloride (hypoelectrolytaemia) result in
hypotonic
dehydration,
clinically
characterized by the absence of thirst
despite dehydration, anorexia and in an
older child headache or dizziness. Apathy,
muscular weakness and lethargy are present
and chloride is absent from urine.
Clinical recognition of dehydration
and assessment of its severity:
Dehydration can more readily be
recognized in a thin than in a plump baby,
although the latter is likely to be dehydrated
more quickly. Clinically, dehydration can be
recognized by:
If concentrations of sodium and
chloride are above normal- 'hypertonic'
dehydration occurs. This can result either
from high fever so that there is excess fluid
l
191
Loss of weight: The mother, if
intelligent would say that her baby has
lost weight even if record prior to
diarrhea is not available.
l
l
l
Skin: is loose, inelastic and wrinkled so
that when pinched and then released,
it slowly returns to its normal position.
Normal skin when released springs
back
to
its
normal
position
instantaneously.
l
l
Eyeball tension: As assessed in
ophthalmic practice for glaucoma, is
poor in dehydration, so that the
eyeball appears depressed and soft to
the palpating index fingers. A
tonometer (Schiotz) shows a low
reading. Visibly too, the eyes appear
sunken and mothers often complain
that the eyes do not close properly
when the child sleeps.
l
l
Thirst: is so characteristic that the baby,
who has not learnt to talk, so avidly
grasps the spoonful of water offered to
him and sucks at it that it hardly leaves
any doubt as to the presence of thirst.
Mother often narrates this when
Mild
complaining of thirst.
Mucous membrane: of mouth, lips and
conjunctivae are dry and in severe
dehydration dull and lusterless.
Oliguria or anuria: Depending upon
severity of dehydration the amount of
urine excreted diminishes or even
stops completely. This latter state, if
persistent, is indicative of irreversible
dehydration and is often fatal.
Depressed anterior fontanel is not a
reliable sign of dehydration.
History: In addition to the above
findings, a history of profuse and
frequent watery stools accompanied
by vomiting and reduced intake of
feeds and fluids would also indicate
the likely severity of dehydration.
The table below gives clinical signs
and symptoms of mild, moderate, and
severe dehydration:
Moderate
1.
General
Appearance
Fretful, sleeps well
Restless, quiet or high
pitched cry, pale
and anxious
Present
2.
Thirst
Present
3.
Mouth
4.
Skin
Dry lips, tongue
furred
Dry
Pale, dry lips often
cyanosed
Cold extremities,
diminished elasticity
5.
Eyes
Bright, may or may
not be sunken
Sunken, tension
markedly low
6.
7.
Fontanels
Muscle tone
Normal or depressed
Normal
8.
Body temperature
Normal or raised
9.
10.
11.
12.
Heart rate
Acidosis
Urine output
Weight loss
130 - 140/minute
Absent
Decreased
2.5 - 5%
Depressed
Often twitching or
convulsions
Usually raised,
extremities cold
160 - 180/minute
Present
Markedly decreased
6 - 10%
192
Severe
Limp, quiet or
unconscious unable to cry
Not apparent due to
serious general condition
Lips cyanosed
Cold ashen pallor,
peripheral cyanosis signs
of collapse
Deeply sunken, rolled up
showing conjunctiva,
cornea dry
Markedly depressed
Completely flaccid
Raised but falls with
impending collapse
Very rapid and irregular
Markedly present
Anuria
10 - 15%
The
assessment
of
degree
of
dehydration is useful in deciding the line of
treatment
Management of diarrhea and its
complications
(A) Diet: Although solid feeds may
have to be withheld only during acute
dehydration or vomiting the child must be
encouraged to eat as soon after correction
of dehydration as possible. Even though this
may initially increase the number and
frequency of stools, ultimate recovery is
expected to be more rapid both in terms of
diarrhea as well as in nutrition. Starving the
child to give "rest to the bowel" is dangerous
and comes from the belief that the child is
unable to absorb various nutrients in
diarrhea. Experience and studies show that
this is not true. While the child may be
offered the food he likes it is customary to
advise nicely mashed banana and 'dahi',
mashed white of a half boiled egg (if non
vegetarian) and pulp of a steamed apple. In
fact, any solid that is soft bland and does
not contain roughage can be given. It may
take considerable time and efforts to
convince parents that such feeding is
harmless but it is worthwhile. The only
circumstances under which milk may have
to be substituted by other protein rich food
is temporary deficiency of disaccharides
(lactase) in malnourished children which
may cause lactose intolerance and
consequent diarrhea. Thus, if the milk sugar
i.e. lactose, is present in an acidic stool (1 %
or more) milk has to be omitted from the
diet. Lactose in stool can be tested by
subjecting the watery part of the stool to
Benedict's test as with urine or a commercial
strip available for the purpose.
ii)
iii)
Vomiting associated with diarrhea,
which can be treated with one of the
antiemetics
Associated infection outside the gut.
Experience has shown that a large
majority of acute diarrheas recovers
spontaneously without the use of antibiotics
provided fluid and electrolyte balance and
nutrition are maintained.
(C) Fluids: Treatment of diarrhea
should include:
i)
(B) Drugs: A host of drugs has been
employed with little tangible result.
i.
toxemia is clearly apparent as in a
diarrhea, which is associated with
blood in stools, fever, and toxemia
Antibiotics have little role in the
treatment of diarrhea because: a) Most
infections are viral and do not respond
to these; b) most diarrheas are self
limiting; c) indeed antibiotics can
worsen diarrhea.
Appropriate anti infective agent: Only
in a situation where evidence of
infection Giardiasis or Amebiasis or
193
Oral fluids.
Prevention of dehydration with oral
fluids: As a general principle, daily
requirement of fluid under normal
conditions is 120 ml. per kg per day.
To this is added the amount lost in the
diarrhea stool and the vomitus. As for
replacement of electrolytes, a solution
of sugar and salt can be advised by
asking the mother to administer a
solution containing a 'three finger
pinch' of salt twice (quantity of each
pinch is 1.5 gm) and a three finger
scoop of sugar, later raised to a four
finger scoop (quantity 30gms) in a pint
mug of clear water. In severe diarrhea,
a three-finger scoop would be
sufficient and once the child can take
this amount, it may be raised to a
four-finger scoop as suggested. (Such
home
made
solutions
are
recommended only where ORS
packets are not available as in remote
villages.)
ii)
Parenteral fluids:
(b)
Three points need to be considered:
(a)
Subsequent rates (per hour):
(i)
Child's weight
under 5 kg.
= 25ml/hour
(iii) Child's weight
10 - 14 kg.
= 75ml/hour
(ii)
Child's weight
5 - 9 kg.
= 50 ml/ hour
(iv) Child's weight
over 15 kg.
= 100ml/hour
Contents and
composition per liter
1
Glucose solution 2.5%
and 5% solution
25 and 50 gram of glucose
in a liter of distilled water.
2
Saline (NaCl) solution
9 gm of NaCl in a liter
of water
3
Darrow's solution
4
Ringer's solution
4 gram of NaCl, 2.7 gram of
KCl and 52 ml of molar
sodium lactate per liter.
5
Lactated Ringer's
6
Sodium lactate
solution 1/6 molar
7
Sodium bi-carbonate
of
First Four hours (fast rate): Weight of
child in kg x 20 = ml of fluid required.
However, depending upon other
complications,
viz.
acidosis
ketosis,
shock
or
hypopotassaemia,
appropriate
fluids may be used according to
individual needs as under:
Name of Fluid
rate
This would depend upon severity
of dehydration but ordinarily the
following rates are recommended
intravenously.
Choice of fluid: As a practical
approach, the fluid that has been
found most useful in developing
tropical regions is 2.5% glucose
in half-strength Darrow's solution
whose composition is as under:
Na - 61mEq,
K - 17mEq/L
Chloride - 52 mEq/L.
Lactate - 26mEq/L
Sl.
No.
Quantity
and
administration:
Triple chloride, NaCl 8.5 gm,
KCl 0.3 gm and
CaCl 2 0.3 gms/liter
Indications in
dehydration
Most effective means of
supplying water in dehydration,
spares proteins, Na and K,
abolishes ketosis.
In medical shock restores
electrolytes balance. Seldom
given alone
Electrolyte replacement and
acidosis (contraindicated in renal
and adrenocorticoid)
Electrolyte replacement
NaCl 6 grams, KCl 0.3 gms
CaCl 2 0.2 gm and
Na lactate 3.1 gm/liter
Electrolyte replacement
(contraindication in metabolic
alkalosis)
3.75% amount 3.75 gram
in 50 ml. diluted to 100 ml
to make a 3.75 % solution
Severe acidosis. Danger of overcorrection and alkalosis.
18.7 gram in a liter or 187 ml
of molar lactate in a liter
Acidosis
Note: Solutions containing good amounts of potassium, particularly K.lactate (Darrow's) should not be
given unless urine flow is ensured or else serious and even fatal K intoxication may occur
194
The fluid administered initially at
(i) above may be repeated every
few hours if the child continues
to appear dehydrated clinically.
(c)
are subcutaneous and intraperitoneal. The
former is unsuitable for administering
glucose as it causes tissue reaction and this
route is most painful. Intraperitoneal route
although convenient particularly for remote
villages, has the disadvantage of lack of
control of its rate of absorption once the
fluid is injected. Besides there is the danger
of peritonitis in the hands of inexperienced
personnel. Scalp vein transfusion needles
can be inserted through a vein in the
dorsum of the hand, ankle, or scalp vein.
(See p 308, Fig. 53)
As soon as the child is able to
accept and retain oral fluids
without vomiting and stools are
no longer watery, intravenous
fluids may stop. Over hydration
is indicated by puffiness of
eyelids and is uncommon. If this
occurs, IV fluids are stopped.
ORS (Oral Rehydration Solution)
can be administered orally to
maintain fluid balance and
prevent
further
dehydration
(see under "treatment of diarrhea
(c) oral fluids").
Prevention
In economically and educationally
deprived
areas
diarrhea
is
largely
preventable with education, hygienic
measures, and inculcation of clean habits
like hand washing with soap, provision of
safe water supply and food. Endemic
diarrheas including dysentery, typhoid and
jaundice from hepatitis A virus, occur from
fecal contamination of public water supply.
Route of administration:
For prevention of dehydration in
diarrhea and in mild dehydration,
oral fluids are usually sufficient.
In all other situations IV fluids are
indicated together with oral fluids
if vomiting is not present. (See
procedue for IV administration
p 308-309, section 5)
In developed communities, diarrhea
from Rota virus is common. Prevention is
possible from oral Rotavirus Vaccine, given
routinely to all infants before age of 6
months.
Other routes that have been employed
195
11
Abdominal Pain
This symptom is one of the most
challenging diagnostic problems in children,
particularly the young who can barely
describe their feeling. The abdomen has
been aptly called the 'Pandora's box' in view
of the large number of its contents and
therefore many surprises it springs in
diagnosis. A careful history is therefore all
the more important, followed by a good
clinical
examination
and
required
investigations.
Pain in abdomen can be acute,
recurrent or persistent. Enquiries should be
directed as under.
l
l
l
l
Duration: Since when has the pain
been complained, beginning with the
first day of onset?
Recurrence: Has it been recurring? If
so how frequently? How long does
each episode last? Duration of painfree intervals? Are recurrences worse
than before? Recurrences occur in
worm infestations, UTI, ulcers, infant
colics, sickle cell disease, renal calculi,
fecal impaction, abdominal epilepsy
and from psychogenic cause.
Continuous: If it lasts longer than three
hours it is likely to be due to an
organic cause, such as appendicitis.
Sudden relief in such a case could
mean rupture of the appendix.
Site of pain. Is it acute and
generalized?
(Peritonitis;
'acute
abdomen' from surgical causes) or
vague and generalized/ dull? Is it
localized? If so, where? Does it occur
at the same site repeatedly? If the
answer is yes, it is organic such as
appendicitis or amebiasis in right iliac
fossa; if left iliac, it could be dysentery
l
l
l
l
or Meckel's diverticulitis. Referred pain
in the right shoulder tip is from gall
bladder disease; left shoulder tip can
be from splenic rupture; referred pain
in lower chest is from peritonitis; pain
in umbilical area is referred from
appendicitis; middle of the back from
pancreatitis. Referred pain is however
much less frequently observed in
children than in adults. Farther away
the pain from the umbilicus more likely
is it due to an organic cause.
Functional pain is usually ascribed to
the umbilical region.
Severity: Severe pain is not necessarily
related to the severity of the cause.
Hysteric pain for example, can be
quite severe but is not organic
Nature of pain: Stabbing pain is usually
felt in pleurisy or peritonitis. In
appendicitis a patient is still while in bed
and does not move since movement is
extremely painful. As against this, in
renal colic the child is restless, rolls and
doubles up as he cannot find relief in
several positions he tries.
Relief or worsening of pain: Pain can
be
relieved
by
defecation
or
micturition. A meal may relieve
(gastric ulcer/ acidity) or worsen pain
(intestinal obstruction). Passage of
flatus relieves pain from intestinal
cause (colic, distension)
Distractibility: Pain from functional/
psychologic cause can be relieved by
distraction. For example if pain does
not occur during sleep, during
watching television, playing or such
pleasurable activity it is less likely to
be organic.
l
Behavioral history: The child at home,
school,
playground;
interpersonal
behavior; parental attitudes; any
tensions in any of these situations may
be important in understanding the
personality of the child in determining
psychologic causes of pain.
Clinical diagnosis is largely made by
the
accompanying
symptomatology
associated with the abdominal pain followed
by confirmation from laboratory and
investigative techniques.
Condition
Nature of pain
Significant associated findings
Infant colics
Colicky
Vomiting and
severe cough
(Whooping).
Generalized mostly upper
abdomen.
Invariably occur towards the evening and at night,
in first three months or so after birth
Common non-gastrointestinal causes
Due to strain on abdominal muscles.
History.
Lobar pneumonia,
Pleurisy
Upper abdominal pain with
respiration
Clinical examination of chest and X-ray
Gastroenteritis
Colicky; fullness; cramps
Fever, nausea, vomiting, diarrhea
Hepatitis: viral.
Acute abdominal pain
Rt. upper quadrant pain
and tenderness
Fever, jaundice in viral hepatitis or Amebic
Past H/O dysentery in amebic hepatitis.
No jaundice in amebic.
Liver abscess
Pain referred to
Right shoulder tip
Cholecystitis
Pain in right upper
quadrant
Vomiting, fever, and abdominal distension.
Acute
Peritonitis
Diffuse tenderness and
pain
Intussusception.
Rhythmic colics, lasting 2-3
Minutes, recurring every
15-20 minutes, with pallor,
Drowsiness.
Fever, vomiting, prostration, rigid abdomen,
rebound pain and tenderness, sluggish/ absent
bowel sounds, raised white cell count with
polymorph increase. May be secondary to
perforation of appendix, peptic ulcer, in neonates
meconium ileus, necrotizing enterocolitis etc.
Mesenteric
Adenitis acute
(virus, E coli
Yersinia, Shigella,
Salmonella)
Pain in RIF, periumbilical,
intermittent, no pain during
intermissions.
Appendicitis
Pain in umbilical region
in right iliac fossa,
Fever, toxic look, enlarged, tender liver.
X-ray/ultrasonography shows raised tender
diaphragm. Liver tap: 'chocolate colored'
(anchovy sauce) pus
Severe pain continuous, child does not
move for fear of pain, fever, vomiting
Polymorphonuclear leucocytosis.
Age below 2 years; sudden onset; pain, vomiting,
pallor, may go into shock and collapse; if pain lasts
more than 2 hours, suspicion strong. Mass in right
hypo-chondriac region or along colon. PR: rectum
empty, blood on finger. Sometimes no pain, only
shock and pallor. X-ray abdomen suspicious,
careful barium enema examination confirmatory.
Recent history of respiratory Infection, child below
2-3 yrs. Fever, umbilical tenderness, less localized
than in appendicitis, tenderness shifts if child
turned to the side.
197
Condition
Nature of pain
Significant associated findings
Acute Pancreatitis
(Uncommon)
Acute pain and tenderness
Renal causes:
Calculi;
Pyelonephritis;
Ac. Glomerulonephritis.
Hanoch Schonlein
synd.
(Anaphylactoid
Purpura)
Pain in flanks, moving
forward or towards the
groin; colicky, intermittent.
Pain; fever; vomiting; if paralytic ileus, absent
abdominal sounds; Advanced cases shock,
Disseminated Intravascular Coagulation (DIC);
common etiology is complication of mumps. X-ray
and barium meal show ileus and duodenal
displacement; raised serum amylase confirms.
Diagnosis made from history and clinical findings
and confirmed by examination of urine, X-ray
(for stone),
Psychological
Worm
infestations
Constipation
Diffuse abdominal pain
Petechiae, urticaria, largely over the gluteal region
and extensor surface of limbs; intestinal
hemorrhages.
Recurrent abdominal pain
Usually vague, varying pain. No organic cause found. The diagnosis is from
Around the umbilicus
exclusion of organic disease; usual associated
Farther the pain from
features are reluctance to school, attention
the umbilicus more likely
seeking, imitation of close family member, anxiety.
is the cause to be organic
Gastro
Esophageal
Reflux disease
Inflammatory
Bowel disease
Varying, usually mild,
diffuse
Pain during passage of
hard Stools
Retrosternal pain, burning;
Sometimes relieved with
food ; sour eructations
Uncommon; cramps worse
with food
Abdominal
Epilepsy
Sudden attacks of pain;
brief; followed by sleep.
Cow's/ other
Milk allergy
Celiac disease
Lactose
intolerance
Recurrent pain following
challenge with the offending
food
Ulcerative colitis
Sickle cell
Disease
H/O of worms, stool examination
Dietary history- poor roughage in diet; exclusive
milk diet. Look for cause of constipation (fissure?)
Characteristic history; barium swallow shows
gastro-esophageal reflux.
Diarrhea, often with blood and mucous.
Uncommon; same as above
Severe pain during crises
often with generalized aches
and Pains especially joints.
Chronic recurrent diarrhea with mucous and
blood, nutritional deficiencies
Possible confirmation from EEG and response
to antiepileptic (AED) therapy.
Confirmed from hematological examination
(Hb electrophoresis)
Confirmed by relief from eliminating the known
food. Specific tests
There are many more causes of
recurrent abdominal pain all of which
cannot be enumerated here. The reader is
referred to reference textbooks.
198
12
Abdominal Distension
Distention of abdomen is a common
presenting symptom in infants and young
children. It must however, be distinguished
from' Pot belly- full and rounded abdomen
of a normal, healthy preschool child. This
fact needs to be appreciated so as to assure
an anxious mother who may occasionally
bring an otherwise healthy & normal child
to the doctor with the complaint of
distended abdomen. In poor regions of the
world, it is not an uncommon site to see
young children with a protuberant
abdomen," a pot-belly", whose abdomen
stands out prominently, who may in
addition have heavy roundworm infestation
exaggerating the "pot belly". The abdomen
is otherwise soft on palpation and no lumps
or viscera may be felt.
premature infant, CNS disorders
associated
with
generalized
hypotonia.
(iii) As
a
sign
of
syndromes
associated with obesity-simple
obesity, Cushing's syndrome,
corticosteroid
therapy,
hypothyroidism etc.
(3)
(iv) Result from edema of abdominal
wall as part of a generalized
edema - kwashiorkor, nephrotic
syndrome.
Abdominal
distension
of
duration (weeks or months):
i.
Pathological states causing abdominal
distension may be grouped clinically under
two heads:
(a)
(b)
Distension of some duration, running
into weeks or months when the child is
not acutely ill. Medical causes usual
Sudden, acute distension of short
duration which is an emergency and
which may be associated with
vomiting and/or absolute constipation.
Cause usually surgical.
The following clinical classification of
some common causes of abdominal
distension may be helpful at the bedside:
(1)
(2)
ii.
Ascites: Accumulation of free
fluid in peritoneal cavity as part
of a generalized anasarca as in
kwashiorkor, congestive cardiac
failure, nephrotic syndrome,
cirrhosis of liver or as a result of
local pathology as in chronic
peritonitis- usually tubercular.
Hepatomegaly resulting from:
a)
b)
Normal, protuberant abdomen of a
normal healthy preschool child.
"Pot-belly":
(i)
(ii)
In heavy roundworm infestation.
As a result of diminished tone of
abdominal
muscles
-rickets,
some
c)
Downward displacement of
liver resulting from thoracic
deformities
of
rickets,
pressure from emphysema
pneumothorax, subphrenic
abscess.
Infectious of the liver Infective
&
amebic
hepatitis. liver abscess. Viral
hepatitis does not not
usually cause abdominal
distension unless prlonged
and with liver enlargement.
Systemic infectious
infestation
such
and
as,
d)
e)
f)
g)
h)
i)
j)
k)
iii.
tuberculosis,
whooping
septicemia.
typhoid,
cough,
(f)
Congestive cardiac failure.
iv.
Cirrhosis of liver.
Fatty infiltration of liver in
malnutrition (kwashiorkor)
Congenital
hemolytic
anemia's
(Thalassemia,
sicklecell
disease,
spherocytosis).
v.
Leukemia, Hodgkin's group
of diseases
vi)
Miscellaneous:
Steroid
therapy, very rapid large
infusions given I.V.
Splenomegaly:
(a)
(b)
(c)
(d)
(e)
Systemic
infestations:
Septicemia, military TB,
malaria,
enteric
fever,
subacute
bacterial
endocarditic, Leishmaniasis
(Kalazar)
infectious
mononucleosis etc.
(4)
Portal obstruction: Cirrhosis
of liver, splenic, and portal
venous thrombosis.
Blood: Congenital hemolytic
anemia,
leukemia,
idiopathic
thrombo
cytopenic purpura.
Hodgkin's
diseases.
Congestive
(Banti's)
group
Celiac
diseases
(Gluten
enteropathy),
mucoviscidosis
(fibrocystic diseases of pancreas
etc.)
Abdominal masses:
a)
c)
commonly
from neuro
of
splenomegaly
200
Storage disorders
Malabsorption syndromes:
b)
Storage
disorders
Guncher's disease, glycogen
storage disease etc.
Neoplasms,
secondaries
blastoma.
(g)
Rheumatoid
arthritis,
collagen disorders.
Mass of matted glands in
TB.
Hydronephrosis
Neoplasias:
Commonly
Neuroblastoma,
Wilm's
tumor
and
lympho
sarcoma,
others
being
much less frequent.
Megacolon:
Congenital
aganglionic (Hirschsprung's) and
habit megacolon. Distension in
these conditions is chronic unless
acute distension sets in as a
result of fecal impaction and
obstruction.
Acute abdominal distension:
i)
Congenital Intestinal Obstruction:
It manifests soon after birth.
Higher the obstruction earlier the
appearance
of
symptoms
consisting
of
vomiting,
abdominal
distension
and
absolute constipation of varying
intensity.
Congenital
lesions
comprise
atresias,
stenosis,
absence of ganglion cells in the
intestinal
wall
(leading
to
absence
of
peristaltic
movements), Constricting bands,
internal
hernias,
volvulus,
duplication of the intestines and
meconium ileus (a condition in
which mucous secretions from
the intestinal glands are thick and