From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
Acanthrocytosis,
and
Ataxic
Syndrome
By
Pigmentary
Degeneration
Neuropathy
: A Genetically
with
Associated
Metabolic
MANUEL
MIER,
0.
STEVEN
A distumrbed
SCHWARrZ
function
can
often
be
of
the
Disorder
AND
BENJAMIN
more
revealing
BOSHES
than
J.
T
HE
INVOLVEMENT
termined
hereditary
hepatic
features.
finding.5”2’
Rarely,
In
to certain
some
however,
lies
in the
are
that
The
first
observations
all
uncommon.
their
in
childhood
early
central
on
the
findings
in
an
who
nervous
18
year
system,
of
erythrocytic
cause
of the
patient
an
atypical
Except
for
abnormalities
the
retinitis
of
the
with
approximately
six years
retinal
appearance
of the
after
changes.22
same
clinical
a history
and
of celiac
disease
of
a hitherto
the
tin-
1952,
Singer,
Fisher
and
hematologic
in Greek)
Examination
beof the
thorn
cells.46
investigation
Bassen,
hematologic
of th
Kornzweig
the previously
described
authors
designated
the
blood
initial
of
of the
alteration
and
(akantha,
the
and
degeneration
Bassen
and
pigmentosa
red
for
elucidation
malformation
erythrocytes.4
In
similar
neurologic
Kornzweig
the
a diffuse
retinitis
pigmentosa,
was
observed.
These
clinimpor-
pathogenesis
to
with
confined
as specific
theoretical
a peculiar
girl
a characteristic
a common
developed
malformation,
acanthrocvtosis
“thorny”
appearance
of the
of the
case
old
subsequently
described
abnormal
appearance
and
Peristein
reported
a patient
manifestations.
association
of
skeletal,
to the
consistently
have
contributed
disturbances.
association
de-
of ocular,
in addition
Their
in suggesting
LO’ERN#{176}
in the
recognized
a neurologic
disorder
and a pigmentary
in the literature
in 1950.
At this time,
reported
first
become
one.
apparent
become
are
a normnal
of genetically
signs
seen
abnormalities
unrelated
anomalies,
they
with
underlying
biochemical
red blood
cells,
retina,
appeared
in which
frequently
thus
A.
is rather
manifestations
and
fact
course
tendency
system
are
the
associations
in the
This
hematologic
structtmres
These
apparently
syndromes
ence
systems
unusual.
instances,
anatomical
entities.
tance,
is not
affections
of the nervous
cardiovascular
involvement
or
neurologic
ical
of multiple
anomalies
Retina
Determined
showed
in
1957,
features
on
the
pres-
described
the
a sibling
of the
observed.25
All
affected
From
the
Northwestern
individuals
Departnment
of
University
offsprings
were
Neurology
Me(!ical
and
Sc/moo!
of
consanguineous
Psychiatry
and
and
Chicago
Wesley
the
marriages
of
Department
Memorial
and
Medicine,
Hospital,
Chicago,
ill.
Submitted
#{176}In
The
Biochemical
?‘.Iar.
31,
Chemistry
Simbjects.
1.960;
of
accepted
Lipids
London:
for
of
Methuen
publication
Biochemical
&
Co.,
1955,
1586
July
3,
1960.
Significance.
Ltd.;
New
Methimen’s
York:
John
Monographs
Wiley
& Sons,
on
Inc.,
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHTtOCYTOSIS,
RETINA
PIGMENT
this has been
regarded
Singer
et a!. considered
ologic
view
the
as a prerequisite
for
unlikely
a cause-effect
alterations
and
of the exceedingly
entire
fat.22
1960,
could
Friedman
hypocholesterolemia
pcrted
presence
with
The
relationship
could
living
or
clincal
these
diseases
involved.
new
has
In certain
of these
Therefore,
bolic
with
the
drome
diseased
with
the
has
group
than
of
was
here
and
of diseases
past
several
methods
for
some
the
prevention
been
of
decades
study
mechanisms
and
treatment
possible.
from
which
the
the
could
be
relationship
by aberrant
OF
prorecently,
in the
the
the
evaluated
further
characterized
IF:PoRT
the
Until
effects
of
knowledge
to clarify
re-
revealed
degenerative
formerly
has
finding
previously
various
the
of
profound
all
recognized.
deleterious
permitted
reported
hope
individual
that
this
of
blood
resembled
During
understanding
metabolism
a case
biochemical
success
to be
in
autopsy.
disorder.
the neur-
and
Falls,
in
suggested
that
of the
peripheral
and
an
greater
case
standpoint
the
to
instances
diserders
which
and
Jampel
patient,
error
has long been
observe
their
at
of the
between
described
of the
physical
led
inborn
disturbances
system
to
result
of
to an
features
metabolic
their
development
However,
in their
co-workers
examination
of
be
patient
help
his
the nervous
done
except
involving
little
of
related
cases.’4
Subsequent
of acanthrocytosis.’
cesses
the
be
and
1587
NEUROPAThY
the appearance
relationship
the celiac
syndrome.46
low cholesterol
found
syndrome
In
ATAXIC
DEGENERATION,
metaused
to
of this
syn-
metabolism.
CASE
Tlistory
A.
C.,
17
a
year
cephalopelvic
old
Jewish
disproportion.
boy,
The
pounds
2 ounces.
In the first few
semisolid,
light
colored
stools.
The
improved
somewhat
on a restriced
and
irritable
was
transfumsions.
reported
as
increase
discharged
with
lymphoid
tissue.”
episodes
acterized
became
so
this
reason,
showed
At
not
the
the
age
that
the
oliarrhea
the
patient
of
determined.
to lack
time,
the
10, he
At
immune
of space
incidence
was
abnormal
the
to
age
again
of
dental
caries
be
normal
other
14,
the
he
had
examined
his
quite
teeth
high.
never
char-
distumrbances
school.
contained
physical
for
the
and
age
blood.
medicaof which
cause
of
a dental
teeth
the
examination
constipating
correction
maxilla
At
gross
stools, the
treated
frequient
was
behavioral
a sumrgical
of
have
was
of the
behavior
The
in both
patient
disease
his
with
and
with
but
hospitai.
Areas
The
to
was
cells
watery,
a “special”
bloody
blood
even
immiproved
grossly
patient
was
all
was
patient
with
cells.
occasionally
to) the
The
and
and
which
u’ndiagnosed
These
in
received
forming
althcugh
child
and
lie
continumeol
children.
the
which
sometimes
6
loose,
disease
sumspect
he became
pale
lymphoid
and
of
weighed
examination
patient
and
place
hospitalized
later,
the
admimitted
to accommodate
of
and
becaumse
and
frequent
erythrocytic
anemia
profuse
findings.
was
months
had
became
for
of
soft
to
towarol
parents
1)irth
developed
marrow
miulmber
years,
large,
being
appeared
again
the
bone
lymphocytes
following
aggressiveness
right eye. A few
due
the
section
at
he
present,
WaS
of “hypoplastic
stools
cesarean
however,
a
in
of
by
normiial
was
regarded
as a celiac
At the age of 28 months,
amiemia
number
development
no significant
tion.
of
the
the
term
life,
included
diagnosis
the
a marked
severe
patient
fat diet.
reduction
Dtmring
His
by
of 6 years,
was
final
of diarrhea,
or foamy.
For
in
the
at
apparently
of
A sewre
a marked
born
was
months
procedures
showing
a concomitant
oily
hospitalized.
Diagnostic
was
child
a strabismus
malocclusion
mandible.
which
At this
are
usumahly
showed
extensive
lesions.
Soft tissime health
was poor.
Response
to orthodontic
therapy
was uneventful.
However,
there
was
an increase
in areas
of chronic
inflammation
and hypertrophy
of peridental
tissues
and dental
caries
continumed
to appear
at a rapid
pace.
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1588
SCHWAPIrZ
MIER,
Early
in
stricted
fat
life,
in
oliet.
This
amiol starchy
imletely.
dietary
foods
daily
was
to
correct
followed
became
Frequmently,
analysis
of
and
age
attempt
dfl
the
by
miiain
activity.
Proteins,
time
of
nt
his
of
intake,
iron,
was
dietary
and
of
vitamins
breaol
caloric
on
habits.
fats
A
partly
were
re-
coin-
gelatin.
low
for
below
corrected
a
Proteins
almost
and
flavored
intake
was
vitamin
BOSHES
placed
avoided
he
of
his
thiamine
administration
patient
imecumhiar
and
enormnotms
aniounts
menu
revealed
that
calcium,
Frequent
diarrhea,
developnu
ouirce
he would
eat
a typical
day’s
requirements.
time
the
AND
A
his
mnininiumni
sonic
of
these
deficiencies.
At time age of
clummsiness
of his
and
during
weeks
fast
later
when
the
or
which
vision,
tended
umicrease
ft
urther
time
Extemmsive
weig425
or
exclumsively
any
with
of
the
to
amnomig
of
mimontlms
The
for
19,
the
patients
ch’Iinite
two)
in
thu’
of
paternal
diarrhea
diagnosis
the
b’
a pen
his
sense
of
basketball
unsteadiness.
head,
A
more
or pencil
hecamiie
particularly
of the
a
few
prominent
object.
using
homework.
o’xamined
so
The
patient
head.
under
Time
or
performing
pronounced
also
that
he
complained
those
visual
ophthalmolo)gist
At
recent
These
with
o)f
circumstances
defect
did
amiol
not
referred
for
the
age
febrile
instance
is
these
manifestations
of 27,
he
by
two
became
a 6
year
of
vision.
laboratory
the
childhood
complete
never
Kornz-
and
a sister
increasing
impairment
that
he
and
heolridden
(lid
child
was
who
has
accompanied
on
of
recovery
boy
this
our
a
child
head
grandchild
are
Patients
without
several
not
been
by
is
not
mother
specific
‘trs1
Fig.
1.-Genealogic
chart.
of diorolioS
tremnor,
of
treatment.
Ivsi.t.
Q
ij#{149}o4
olone.
afflicted
the
available.
and
her
established.
‘r,rmt.
of
afflicted
was
expired
necropsy
This
data
anol
known
instances
of neuroa maternal
uncle
who, at
informed
distumrhances
was
of
slowly
family
oOnsangu!ineOuIs
l’he parents
).
Unfortunately.
of
loss
by
I
that
a
the
episode.
that
only
was
and
and
psychiatric
progressive
followed
were
of
Bassen
eviolemice
ol)served
al.’#{176}(fig.
One
neumropathy
aumnt. Clinical
and
occumrred
dumring
were
of
There
occasions
severe
and
et
family.
a
dumring
gait
ataxic
many
no
patients
Singer
health.
this
revealed
the
l)v
of
an
family
with
excellent
on
years
of
sister.
one
with
he played
time
of
at
“blurred”,
movemnents
gait
when
increased
impairment
his
patients
mnenuhers
1940,
more
oldest
Episodes
OI(l(’st
in
past
do
described
developed
and
impairment
to
was
the
sclerosis.
later,
other
be
examined
was
diseminated
with
dark
looking
This
relationship
patient
olisorders
He
the
to “dislike”
skill.
tmnsteady
movement
and
seen
patient
kmmown
considered
age
in
of
pronounced
stmI(hieS.
logic
vision.
more
sitting
described
as
tue abnormal
The
appearance
to-and-fro
was
almost
were
the
or
manumal
dark.
the
were
\Valking
a
standing,
investigation
or
walk.
noticed
required
diagnostic
marriages
his
which
lie
to produmce
in
noted
symptoms
time patient
typewriter
a
in
was
which
imsed
patient
These
mother
childhood,
work
the
tumrns
his
patient
Fromn
any
17,
legs.
#{234}rto
SUSd.
A
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHIIOCYTOSIS,
Physical
RETINA
examination
well
intermittently
position.
dark,
with
a
age.
( pes
The
neck was
The patient
and
Recent
).
and
long,
was
his
heart
soft,
of
the
of
of
normal
no
and
and
size
organs
surfaces
the
with
were
except
the
specific
I)atiemit
his
for
syniptomns.
certain
‘Ilmere
tests
of
objects.
famnihiar
hi.lmI(lV(l.
woumld
Althoimgim
behavior.
namn(’
with
of
lymiiph
lungs
His
the
Speech
handwriting
was
the
miormal
and
to
percimssiomi
was
and
incisors.
145
external
There
enlarged.
The
atmscimitatiomi.
‘liii’
not
011(1
tIme
predominating
cemitrai
‘as
pressure
examination
caries
lower
thyroid
Blood
Rectal
dental
The
clear
sounds.
palpated.
upper
revealed
cx;imi:iation
extensive
nodes.
were
Oral
follows.
us
gimigiva
the
of
negativistic
left
was
were
thinking
the
about
place
information
deserih)ing
necessary
patiemit
area.
calculations.
ut
:tn(l
umnusumahly
( fig. 2).
in time,
cooperative,
concermi
reeogmiize
were
the
labial
of
were
3).
time findings
aI)normalities
and
was
was
to
The
( fig.
hyperemnia
in time midline
was
able
intelligible.
lack
instructions
for
slightly
mid-dorsal
abstract
or
or
hirsute
abdomen
general
of
on
somewhat
complicated
on
similarities,
euphoric
the
was
questions
a
pinnas
antehelix
fossae
oriented
even
generally
a striking
distorted
omie-third
for
Althommgh
was
do
in
The
was
the
amid
was
The
arches
on
well
smoahl
umnusumaily
foot
disturbances
testing
low.
time
sumpraclavicular
He was well
and
consistent
was
was
The
to
patient
skin
and
prominence
ability
the
Tile
patient
stubby.
the
was
to time head.
narrow
more
inappropriate,
he
hut
and
51)Paremit
trachea
an(i
examiiination,
gingival
in
there
grossly
of edema
ho
of
un(lerstan(ling
slurred
an(l
systenmic
the
fingers,
with
proverbs.
of
illness,
in
the
trapezii
and deep
and cooperative.
responses
simple
examnimiation,
(liflicumlt
were
the
rounded
ciisttmrhances
outbursts
of
soniewhat
in
md
and
shoulders
no
neurologic
On
face,
the
umnimpaired,
(hifficulty
presence
developed.
were
aware
was
applied
relativu’ly
head
hairline
poorly
were
of
the
tightly
There
umnimsimal
and
The
when
was
the
oth(rvise
but
particumlarly
pointed
memory
show
no
slow,
1589
NEUIUWATHY
male.
helix
was
no
adult
tragums
over
flat
)
#{189}inches
of the
prominent
attentive
were
nieaning
(flute
were
remote
occasionally
was
ATAX1C
young
tremnor,
slender,
back
with
alert,
)
oscillating
bones
were
( 65
short
answered.
occasional
syml)oiic
132
lesions
The
There
accumrately
an
were
hands
cavus
person.
for
acneic
The
high
pounds
frontal
extremities
prominent.
a
(
the umpper aspect
prominent.
The
few
All
to
The
smiiaii with
sides
was
revealed
nourished
subjected
standing
his
DEGENERATION,
Exaniiiuition
The physical
(leVeloped
and
were
1)0th
PIGMENT
80.
The
ai)(lomlien
genitalia
were
not
remarkable.
Neumrologic
ing
in
with
examinatli)n
tafl(iemfl
a wide
walking
base
with
withoumt
base
lowed
by
anims
than
maintained
the
occumrred.
reasonably
the
patient
a few
jerky
closed.
accentuated
falling,
stretched
mnore
decomposed
eyes
falling, and
narrow
for
and
both
that
reveale(i
position
was
seconds.
movements
He
was
the
head
cephalic
time
legs.
do
fast
turns
time
right
to
tilted
to
when
\Vhen
examined
sumpine,
steady
although
on
to
mmiaintain
gait was
of
unable
tremor;
umnable
The
both
the
This
to
patient
the
able
hold
to
passive
arm
the
adiadochokinesia.
any
of
stretch
minimal
the
decreased
symmetrical.
was
extremities.
reflexes
stimulation,
decomposition
phenomenon
The
were
absent.
there were
on the right
On
sensory
to
perceive
passive
movement.
muscle
Except
no pathologic
and present
examination,
and traced-figumre
discrimination
lower
limbs
below
the
knee,
tested,
approaching
a normal
unable
of
inconstantly
were
which
response
movememits
There
was
There
were
present.
tone
for
was
an
or great
the
left.
touch,
light
all
well
gradually
at the
of
no
significantly
gross
associated
move-
left,
and
the
heel-to-knee
on
motor
decreased.
outdown
defects
All
of
muscle-
inconsistent
hand
on
not
bilateral
a
fol-
fell
test,
a
on
swaying,
the
only
speed
Standing
slowly
while
the other
described
a broken
arc,
with
the
fingers
showing
ments.
There
was ataxia
on index
finger-to-nose
test, more
obvioums on
movements
of both
hands
were
decomposed.
There
was no trite ataxia
Time rebound
by
his
closed,
s’as
past-pointing,
exaggerated
change
walking.
were
stand-
incoordinated
was
or
while
eyes
himself
markedly
time
extensor
response
on right
plantar
toe signs.
The aixiominal
reflexes
were
The cremasteric
reflexes
were brisk
and
superficial
pain,
temperature,
two-point
perceived.
There
improved
level of the
toes
as
was
more
costal
of time left
apallesthesia
proximal
The
margins.
foot
or
in
portiomis
to
patient
describe
both
were
was
their
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
4
;
C,,-
CCI)
q
-
to
1590
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHROCYTOSIS,
position.
tendons,
RETINA
Joint sense
and double
PIGMENT
was otherwise
simultaneous
1)EGENERATION,
intact.
ATAXIC
Stereognosis,
pain
1591
NEUROPATHY
perception
from
nmumscles
sensory
stimumlations
were unaltered.
The
patient
readily
identified
different
substances
through
the
sense
of
ophthalmologic
examination
revealed
the general
aspect
of
the fundims
to be
the optic discs were also somewhat
pale and had sharp,
well delineated
margins.
fundums on both
sides was covered
by multiple
round
dumil white
dots of varying
numerous
toward
profuse
the
periphery
and
in
the
vicinity
of
the
blood
vessels.
and
smell.
Time
quite
pale;
The entire
size, more
They
were
not
at
the macular
regions.
In some
peripheral
areas
they
occasionally
assumed
a
dummbbell shape,
indicating
the conflumence
of miiore than one
lesion.
Irregumlar,
dark
areas
also were
present
at the periphery
( fig. 4 ) . The pimpils were
roumnd,
regular
and
eqimal;
they reacted
well to light
and accommodation.
On performing
the
latter
test,
only
the
left eye converged
while
the right remained
in time miiidiine.
Examination
of visumal acuity
showed
the right
eye
to
be
( uncorrected
) 20/50
and
the
left
( uncorrected
) 2025.
Grossly,
visual
fields
were
within
normal
limits
( oumtline
perimetry
) . The
central
and
peripheral
explorations
of the visumal fields were repeatedly
performed
with the I mm. and
3 mm.
targets.
Unfortunately,
the patient
was consistently
umncooperative;
therefore,
time
results were considered
unreliable.
The
that, in the horizontal
plane, the eyeball
delayed
fashion,
as compared
with
the
movements,
with the rapid
component
observation
except
neurologic
(If
rotating
the
extraocular
medially
movemmients
described
its
arc
showed
in
a
jerky
smooth
motion
of the other.
A few
nystagmimoid
in the direction
of gaze,
crowned
the
extreme
lateral
position
of the smooth-moving
eyeball.
On sumstained
lateral
gaze,
there
was
horizontal nystagmus,
with the fast component
in the direction
of gaze.
No vertical
nystagmums
was observed.
All other
eye movements
were
umnimnpaired.
The modified
caloric
( Barany)
test elicited
a decreased
response
bilaterally.
The muscumlar
strength
and
bumlk of the temuporal, masseter,
pterygoid,
sternocleidomastoid
and trapeziums muscles
of both sides were normal.
All modalities
of superficial
sensation
over
time face
were
unimpaired.
The
corneal
reflexes
were
brisk
and
symmetrical.
Time right
palpebral
fissumre
was
narrower.
On
showing
the
teeth,
the right
angle of the mouth
pulled
away
better.
However,
on vohmntary
motion
no
other
significant
disturbances
of the facial
mimumseimlature were
observed.
Taste
was
intact.
There
were no gross hearing
defects.
The
Rinne
test
was
normal
and
the
Weber
did
not
lateralize. The
uvula
remained
in tue midline
during
phonation
and the pharyngeal
reflex
was brisk
on both
sides. The tongue
protruded
in the midline
and no atrophy,
tremor
or
fasciculations
were observed.
The patient
was
able
to mnove
the
tongue
laterally
and
downward
but was unable
to curl the tongue
upward.
When
instructed
to lick
his
upper
lip,
he had to bring it down in order to do so.
Clinical
examination
was repeated
10 months
later
and
was
essentially
unchanged,
for
previously
slight
progression
described
a
changes
Laboratory
The
and
laboratory
Radiologie
The
pineal
the
the
periphery
Complementary
findings
examination:
gland
of
at
could
are
the
fumndi
and
a
(fig.
5).
further
increase
of
the
Examinations
summarized
in table
Examination
not
findings
of
be
of
identified.
the
1.
skull
Films
showed
of
both
the
hands
sehla
and
turcica
to
wrists
be
for
normal.
bony
age
showed
that all epiphyses
had fused.
Small bowel
studies,
on the first hospital
admnission,
showed
an exaggerated
prominence
of the dumodenal
folds and proximal
parts of the jejumnum.
Also present
wer3 segmentation
of the loops
of the small bowel
with isolated
areas of abnormal
dilatation
along
with other
areas of mild dilatation.
Some segments
showed
an exaggerated
prominence
of the mucosai
relief
and
relative ironing
of the contoumr in some of the dilated
segments.
There
was a
delayed
motor function
of the small intestine
and at the end of four houmrs the colummn
of barium
was seen at the mid-part
of the ileum.
At the
end of six hours
the bariummn
head was seen at the cecumm. The bony stnictnmre
about
the abdomen
and pelvis were not
remarkable
(fig.
9,a).
The gastrointestinal
duodenal
loop
was
sttmdies
of normal
were
course
repeated
and
nine
caliber.
months
There
later.
was
On
a good
this
deal
examination
of
clummping
the
and
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
0
0
0
I-
0
04
.
a
0
.0
1592
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACAN’I’HRO(:YToSlS,
BETINA
-
PIGMENT
DEGENEBATIOX,
#{149}TX1C
1593
NEUIIOPAJIIY
-
.
I
Fig.
dull
4.-Retinal
white
segmnemitatiomi
mumcosal
there
gional
hoimr
of
of
folds,
was
manifestations.
dots
the
varying
opaque
material
particularly
a narrow
enteritis
filmu bumt the
ioop
( fig.
9,c
5-houmr
Note
the
pigmentary
within
the
small
changes
and
the
numerous
sizes.
in
of
the
bowel
) . There
film
did
proximal
which
was
miot
small
strongly
a suggestion
reveal
this
bowel
bowel
resembled
with
( fig.
the
of a similar
fimiding.
an
exagggeratiomi
9,b ) - On
string
the
4-houmr
sigmn” u-cnn
pimomammmmemiomi oh
tine
of tine
film)),
iii
re-
third-
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1594
MIEE,
Fig.
SCHWABT’Z
AND
BOSHES
6.-Acanthrocytosis.
200
050
100
TV
so
30
I,
1
1
Fig. 7.-Glucose
tolerance
levels
were
determined
every
11
tests.
five
I
I
hyperglycemia
minutes.
I
I
was
I
J
observed
Il
only
I
I
when
blood
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHROCYTOSIS,
RETINA
PIGMENT
DEGENERATION,
ATAXIC
1595
NEURGPATHY
10
9
8
7
6
.
in
2
0
I
I
Fig. 8.-Absorption
of radioactive
tagged
fats.
Blood
2, 4, 5 and 6 hours after the administration
of the man labeled
line represents
the expected
normal
values.
Electroencephalogrann:
The
Wechsler-Bellevue
Bellevue,
Intelligence
the
patient
the
performance
verbal
scales
perceptual
was
components
the
in the
Examination
rather
than
a
was
70.
due
field,
for
Scale
obtained
scale
to
miiotor
tests
for
a
cortical
The
a
specific
speech
was
administered
the
scale
This
shown
with
evidences
fl()
the
the
of
84.
Rorschach
factors,
time
verbal
scale
patient
the
parts
On
between
primnmarily,
Test,
Battery,
Test.
his
determined
interrupted
bitemporal
slowing
ocof sei-iumre discharges.
Cortical
discrepancy
l)y
levels
were
lipids.
The
l)raw-A-Person
IQ
wide
of
difhculty
speech:
were
and
full
abnormal
There
involvement,
combination
of
mildly
was
record
casionally
involving
the biparietal
areas.
Psychological
examination:
‘l’iie
patient
cept
Formnation
Tests
for gemieralized
I
the
IQ
Conof
1(X)
was
time performnance
the
and
the
part
of
strephosymbolia
appearance
the
W’echslerand
and
in
of
time
organic
involvememit.
patient
was
distumrbance.
examined
In
as
the
examination
a
complete
of
oral
evalunation
strumctumre
and
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1596
SCHWARTZ
MIER,
Table
1.-Summary
of
Laboratory
AND
BOSHES
Findings
Krythrocytes:
Blood:
Cell
*Total
count:
Ht.
Wbc
4oO/
N
6,500
Band.
60’/(
l’/
Marked
acanthrocytosis
Reticulocytes:
3%
Saline
fragility
test:
Sickle
Direct
*Apparent
tact.
cells.
erately
Fasting
sugar:
*Total
lipids:
Phospholipids:
Cholesterol
Chlorides
mg.
75
mg./100
42
intact.
2 :0.
about
Cata!ase
P.,
venoims:
total:
der
Van
optical
plasma
Mod-
Alkali
time
ml.
Proteins,
total:
ti.53
4.38
Gm./100
Globulin:
2.15
Gni./100
Electropharesis
mEq./L.
speech
was
F-6-P/n:in.
normnal
1.8%
4.02
AA
gm./l00
ml.
ml.
ml.
proteins:
Gm.%
alphai:
0.22
*alpha.:
0.30
beta:
0.91
gamms:
values
are
1.09
per
tPhosphohexoseisomerase:
tAldolase:
jlsocitric
ml.
mg./100
2.49
Class
ml.
units/100
0 (normal).
1cm
vs
ml.
ml.
of
platelet-poor
68
mM
F-6-P/min.
=
506
t6-Phosphogluconic
0.700
1,6-P/mm.
11 mjoM
dehydrogennnse:
5.4
H20
9 mjnM
F
dehydrogenasc:
tMalic
mM
muM
TPN.H/min.
DPN/min.
dehydrogenase:
mjsM
TPN.H/min.
(;lucose.6-phosphate
0
time
test,
at
mg.%
dehydrogem’ase:
TPN.H/min.
dehydrogemmase:
253
npnM
DPN.H/min.
tests
were
for:
(1)
time lips
at a rate
of 5 second,
with
a
no breakdown;
(2)
tongue
tip at a rate
of 4.5/second
and
regular
(3) back of the tonumge at 4 second
with
breakdown
after
7 seconds
(4) vocal
folds showed
occasional
3/second
bunt most of the time
mandible
started
at 5/second,
then slowed
to 3/second
and became
diadochokinetic
was
intensity
of
Albumin:
mEq./L.
mg./100
0.40
end.
normal.
evalimation
normal
mp M
test:
hemoglobin:
Albumin:
ml.
toward
hoarseness
stability
e:ectrophoresis:
Globulins:
2.55
rhythm
and
with no breakdown;
followed
by recovery;
umnaccomphished;
(5)
erratic
31
F-l-6-P/mmn.
9.7
plasma:
regumlar
appeared
In the
method):
H(;B:
mg.
(;m.
resistant
tLactic
fumnction,
(;SH
Hemoglobin
Following
density:
jog./100
by anthrone
are
per
16
mEq./L.
29.3
2.69
Bergh:
and
Hemoglobin:
in-
ml.
ml.
66.6%
100.0
mg.%
hexose
4.3 rnpM
TPN.H
mm.
(;loicose-6
phosphate
dehydrogena.se:
6.3 muM
TPN.H/min.
ml.
146 mEq./L.
146 mEq./L.
5.3 mEq./L.
inorganic:
6.6
days
ml.
Alkaline
phosphatase:
Ceruloplasmin
assay:
PBI:
/100
lipd
Lactic
dehydrogcnnse:
$5 mM
DPN.H/min.
Isocitric
dehydrogenase:
0.82 moM TPN.}jmin.
Malic
dehydroreriasc:
247 moM
DPN/min.
6-Phosphogluconic
dehydrogena.se:
lymphocytes
and
in
eosinophiles.
of iron.
mg./100
esters:
(as
Cl):
C.
(as
galactose
Following
values
Granulopoiesis
250 mg./100
2.5 mg./100
#{149}Cholasterol:
Potassium:
Sodium:
Calcium:
Phosphorus,
1%
sec.
Megakaryocytes
WBC
ratio
11
529
Total
serum:
nitrogen:
lipids:
Baso
Phosphohexoseisornerase:
Aldolase:
1.3 mjoM
14
normoblastic.
or
0%
18
time:
Some
increase
in
Marked
increase
heavy
deposits
Plasma
time:
Prot.
hypercellular.
RBC
to
Erythropoiesis
Actual
4%
complete
24%
F
6)
0.26%
cell
prep.:
neg.
Coomb’s
test:
neg.
T’
Cr#{176} survival
test:
Biliruhin,
Direct
31(/,
(fig.
beginning
Bone
marrow:
Somewhat
Nucleated
C02
M
0.46%
Schilling
Urea
L
Time
lmpper
5 db
above
movements
intensity
quality,
vocal
limit
this.
could
intensity
was
Pitch
89
in
db.
range
and
running
Our
was
not
pitch
speech
be
elicited.
the
of
was
normative
data
somewhat
reduiced,
Palatal
voice,
normal.
places
movements
intermnittent
On
the
althotmgh
mild
the
voluntary
lower
limit
pitch
of
during
flexible.
168 words
per minute,
slightly
low bumt within
normal
limits.
There
were
10 paumses
made
during
34.5 seconds
of oral
reading.
This
was
within
normal
limits.
Vowel
sustaining
ability
was greatly
reduiced:
the mean
of three
trials
was 12 seconds,
where
at least 18 is our minimal
normal
value.
Articulation
of single
words
was normal.
During
finning
speech,
there
were
omissions
of many
final consonants
and slurring
of many
medial
consonants.
Poor motivation
could
not be excluded
in considering
the reason
for this impairment.
In complex
articulatory
movements,
the subject
experienced
severe
dyskinesia
of the articulators.
Rate
of
normally
tongue
the
of
noted.
the
least
Fine
speech
was
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTIIROCYTOSIS,
IIE’IINA
PIGMEN’l
Table
fluid:
opening:
(o-rebrospinal
Pressure:
120
mm.
14
1:
mg./lOO
Cells:
Feces:
165
mm.
water,
closing:
Ova
and
neg.
tube
1597
NEUBOI’ATHY
1.-(Continued)
water.
Proteins:
A’fAXIC
l)ECENERATLON,
20
mg./100
ml.,
tube
parasites:
Qualitative
exam.
5Urobilinogen:
III:
405
for
EU
per
fats.
100
neg.
gm.
+
Benaidin.:
ml.
none.
Ross
Jones:
neg.
Colloidal
gold:
0111000000
Kahn:
neg.
Wasserman:
Kahn
neg.
(blood):
neg.
Urine
Color:
light
Reaction:
yellow,
no
change
on
standing.
Specific
gravity:
Porphobilinogen:
normal,
24
/:o
hours
consecutive
days.
(;ltcoe.
galactose
Urobilinogen:
l7-ketosteroids:
‘4.47
Copper:
0.580
mg./24
mg./24
hours.
hours,
1 .l7
1.06
mg./24
hours.
Functional
tolerance
tests:
d-Xylose
5Vithm:n
A
test
tolerance
and
dose:
test:
fat
absorption
oral:
Test
100
dose:
Gm.
25
(I.
vitamin
A (I.
b)
vitamin
total
Gm./24
IV:
50
1
wbc.
pyruvic
hours.
acid:
neg.
Creatine:
analysis
of
urinary
amino
pattern.
4%
oleic
in
glucose
ml.
of
urine:
9.15
Gm.
ml.
of
urine:
7.35
Gm.
tests:
test
dose:
a)
30
b)
600,000
u
c)
50
fats
ml.
(mg.’,%
)
acid
test:
Gm.
(45
mm.
7)
A.
5 hour
6 hour
7
213
213
230
230
250
250
250
230
50
microCuries
injection)
Ceph.
7 hour
12
230
22T
250
2
dose:
after
(fig.
percomorphum
Vit.
6
2.5
Test
Oleum
3 hour
230
serum
50%
280
U.%)
I’s’
of
668
(mg.%)
and
Bromsulfalein:
Deviation
phenyl
EU/24
paper
normal
Patient:
U.%)
(I.
ml.
6
turbidity
phoaphalipid
tDeviation
rbc
hours.
Control:
U.%)
A
lipid
1#{176}’
triolein
BMR:
2
Gm.
Fasting
carotene
c)
Cells:
tests:
5Glucoae
a)
and
194
Chromatographic
acids:
Oral
1.003-1.013.
alk.
3.4
(fig.
8)
fiocculation
no
precipitate.
-31%
from
normal
from
mean
range
normal
of
value
values.
exceeds
±2
S.D.
In
summmmary, the speech
imnpainnent
was
not sever(’.
ilmere
were
suggestive
signs
un
terms
of louidness
and vowel
simstaining.
Articulation
was
mildly
impaired,
hut
not
to the
point
where
intelligibility
suffered.
Breakdown
of articulatomy
coordination
under
complex production
tasks was considered
highly
suggestive
of central
nervoums system
involvement.
Auditory
tests: There
was a very mild bilateral
depression
imi tile aundiogram
in the range
from 2XX) to 4000
cps,
the significance
(If
which
was
(lifhcult
to evalumate.
The
patient’s
ability
to umnderstand
speech
as measured
by conventional
PB-So
word
lists was normal.
Fnmrther
special
auditory
tests suggested
passibli. imlvoivenment
of the auditory
cortex
on
the left side of the brain.
The ability to understand
low-pass
filtered
speech
was significantly
poorer
on the right
ear
than
on tint’ left
ear,
and
altermiate
bimiaural
loumndness
balancing
of 250 and
10(X) cps
tones
required
more
intensity
on the right
ear than
on the
left ear.
Takemi as a whole,
these
resumlts sumggested
no involvement
of the cochlea
or auditory
nerve
on either
side, butt pOssii)le
involvement
of the central
atmditory
system)) on the left
side of the brain,
probably
at a cortical
level.
Clinical
course
and treatment:
Following
his
discharge
froni
the
hospital,
the
patient
was
placed
on a glumten-free
diet, with vitamin
and mineral
sumpplements
and therapeutic
amounts
of folic acid.
In the ensuing
months,
the manifestations
slowly
increased
and
became
more
constant.
The patient
was encotmraged
to increase
his intake
of numk’itional
fats, bunt he consistently
refumsed to do so.
Becaumse of the continumecl
progression
(If
the (lisease,
predmiisone
in the amoumnt
of 30
mg. a day s’as added
to the therapeutic
regimen
and the patient
was
observed
for four
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1598
MIER,
SCHWARTZ
AND
BOSHES
0
a::
Cl
.
.
a
a
C4
0
Cl
Cl
,.a
a
Cl
a
Q
Z
Cl
.
Cl
“
Q
.
0.-.
a,.-’
‘
Cl
bfi
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHROCYTOSIS,
BETINA
10.-Dental
Ph.D.)
Fig.
D.D.S.,
weeks.
Except
nificant
the
casts
for
change
copper,
an
in
beginning
of
the
PIGMENT
prior
increase
his
this
therapy.
At
use
of
and
present,
in
chelating
view
agemits
is
distress
of
the
heing
T.
of
of several
gain
epigastric
1599
NEUBOPATHY
(Courtesy
a weight
Mild
noted.
ATAXIC
therapy.
appetite
was
condition
therapeumtic
to orthodontic
in
his
DEGENERATION,
and
M.
poumn(ls,
naimsea
mcrease(l
Graber,
urinary
no
sig-
occurred
at
excretion
of
considered.
DIsCussIoN
Although
the
abnormality,
its
this
clinical
entity
syndrome,
not
hirsutism,
slender
the
From
neurologic
the
reported
signs
of
that
lions.
process
are
Furthermore,
and
spinal
feet
(pes
the
classical
the
cord
cavus)
picture
that the clinical
brain
stem
of
the
vestihtmlar
is not
extremely
age
onset,
the
of
the
spine
of Friedreich’s
differentiation
of
the
presence
with
ataxia.2#{176}It should
between
patielit
spinocerebellar
the various
maniCertain
to
stress
the
main
degenera-
characteristic
be
the
nuclei.
serve
cerehel-
deformities
condition
pointed
pathologic
the
incon-
nystagmus
than
Nevertheless,
skeletal
this
the
The
or its
of the
bring
for
reflexes,
rather
our
involvement
accounts
(liffiCultieS.
in
in combination
(kyphosis)
nerve
apparatus
all
of
occasion,
OIi
stretch
nature.
findings,
indicative
probably
speech
progressive
a few
peril)11en11
involvement
those
degeneration.
and
picture
lesions
a localizing
to
of
of
pi1tte,
abnormalities
Components.
performed
of
similar
symptoms
and
the
and
stigmata
muscle
al)SeIIt
minor
exception
of
or
these
of
examinations
the
manifestations
lar
responses.
complementary
fact
the
lesion
the
features
arched
chronic
cerebellar
of
strongly
of the
pathological
disease
nature
consequence
a selective
with
and
tract
The
plantar
the
of
the
the
pyramidal
a pig-
which
highly
as
systems.
syndrome
inherited,
basic
column
disturl)ances,
extensor
festation
and
a common
2).
sensory
is probably
of
of
(table
and
sistent
standpoint
multiple
childhood,
trunk,
regarded
an
hematologic
clumring
folds,
nourished
of
purely
Subsidiary
epicanthal
signs
is that
a
involves
svnclronie
well
other
posterior
suggestive
observed
motor
and
which
celiac
are
with
picture
of
and a neurologic
(Iegenerations.
present,
possess
combination
a
spinocerebellar
cavus
clinical
process.
a condition
retina,
extremities
pes
ears,
fact
in
of the
always
The
entire
degenerative
cases
is
suggestive
is
include
degeneration
that of the
resembles
are
acanthrocytosis
characteristics
mentary
of
term
of the
into
line
out,
however,
forms
with
of cere-
a
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1600
MIER,
Table
by
2.-Comparison
Bassen
and
Clinical
Age
of Clinical
Characteristics
Kornzweig
(1), Singer,
Fisher
Patients
Peristein
Ethnic
origin
Consanguinity
Age of onset
of
parents
of neuropatlny
syndrome
Previously
Reported
(II),
Kornzweig
18 (1950)
female
13#{189}(1952)
mimale
Jewish
JewiSi)
first
second
cousinS
approximately
onset
16 years
at age
lasting
degeneration
of 2
several
clinical
Pigmentary
years,
recovery
Habitus
rommnd face,
trimnk,
distribumtion
slight
l)egernerative
stigmata
well
thin
lip,
nourished
of time tsp-
extremities
several
clinical
recovery
(present
round
face,
tnnnk,
pubic
severe
present
Severe
present
Present
ataxia
Athetoid
movemllemlts
absent
1)resent
Intention
tremor
present
present
weakness
immoderate
in the
lower
in
the
of
atrophy
remarkable
not
Muscle-stretch
reflexes
reflexes
and
left
hearing
pain
(easily
Babinski,
exhausted)
right
abnormal
response
the
and
wrists
hip
fiexors
toes
impaired
impaired
(stocking
tribution
not impaired
present
inconsistent
ski sign
bilateral
Bahin-
inipaired
impaired
perception
the
and
absent
piantar
Pailesthesia
Position
sense
Touch
perception
tilt’
particumiarly
ai)sent
absent
present
reflexes
absent
abdominals,
abductors
Speech
1958)
well nourished
extremities
alimnost
gemieralized,
(‘xtrernmties
Superficial
Stereognosis
in
al)st’i)t
present
Pathological
years,
beginning
Romb#{128}rg sign
disturbance
thin
hair
I)upuytren’s
contracture,
highly
arched
palate
severe
Abdominal
1 year,
and
hair
aixiomen.
Pubic
with male distribution.
epicanthal
folds,
curving
little fingers,
Muscle
of
lasting
absent
extremities
hirsutisni
Ier
Muscle
age
at
onset
years,
present
cousins
10#{189} years
retina
of the
Gait
BOSHES
U
reported)
Sex
Hair
and
AND
Characteristics
(when
Cehiac
in the
SCHWARTZ
imnpaired
dis-
not
impaired
not impaired
impaired
disturbance
deficits
(somewhat
nous and slow)
severe
in 1958
snot present
present
monoto-
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHROCYTOSIS,
and
RETINA
Bassen
(ill),
in Our
PIGMENT
DEGENERATION,
Friedman,
Patient
(V).
Cohn,
Zymaris
Modified
from
III
18
male
Jewishn
first cousins
ii years
onset
at age
lasting
and Goidner
(IV)
Singer
et al.
1960)
Jewish)
(?)
none
of
9 months,
1 year,
years
onset
17
at age
without
clinical
of 18 muonths,
clinical
(known)
years
onset
recovery
at
age of
several
lasting
clinical
recovery
absent,
“bilateral
opacities”
and
choroiditis”
present
prominent
abdomen,
lordosis
lenticular
remarkable
head disproportionately
large,
thin
extremities,
prominent
abdomen,
scoliotic
spine
of
half
hypertrichosis
and
lower
2 months,
years,
recovery
present
“myopic
with loss of the
hordotic
curve
not
(
18
male
male
Jewish
3
and
V
( 1960)
36
1601
NEUROPATHY
IV
)
(1957
ATAXIC
thin
face, long neck, well
nourished
trunk,
thin
extremities,
kyphosis
lumbar
the
trunk
of
how
the
hairline,
generalized
moderate
hirsimtism
body
absent
of the
webbing
fingers
the
nails
of the
and
toes
sharply
with
small
fingers
curved
pinnas
with
the
upper
aspect
of the helix tightly
applied
to the head,
pes
cavus
severe
severe
present
present
severe
present
present
absent
all
absent
extremnities,
trunk
and
marked
in
present
(shoulder
the
extremnities
present
absent
neck
present
(shoulder
upper
and lower
tremities)
girdle,
ex-
upper
and
absent
ex-
tremities)
absent
absent
girdle,
lower
in lower
extremities
absent
(left),
present
decreased
(right)
inconsistent
extensor
response
on right
plantar
stimulation
impaired
impaired
impaired
impaired
impaired
not
impaired
not
not
impaired
impaired
and
not
(glove
stocking
distribution
impaired
distributiOn)
impaired
present
impaired
(stuttering)
present
hearing
for
(nasal
character)
slightly
defective
high
tones
not
impaired
not
impaired
present
see
auditory
tests
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1602
MIER,
bellar
and
spinocerebellar
primarily
descriptive.
It is well
sary
disease
recognized
component
that
of
any
however,
this
association
becomes
an
integral
described
by
lar
signs,
be
the
in most
such
from
distal
The
paresis
been
ocular
in our
the diagnosis
posits
of dark
several
tinder
the
ence
in the
sent
and
stances
Rarely,
white
the
it
atactica
and
other
manifestations
The
cerebellar
cerebel-
syndrome
is considered.
a striking
number
may
The
spinal
elevation
of cells.
in this
of
Skeletal
condition.1
a progressive
syndrome
show
changes
Some
polyneuropathy
and
the
syndrome
However,
which
was
herein
certain
exceedingly
those
patients
Erythrocytic
some
dis-
laboratory
low
with
Refsum’s
malformations
unusual
subsequently
observed
clinical
the
in
synhave
slowly
changed
former,
dots.
deposits
are
more
rapidly
of a pigconditions
originally
described
by
changes
progressive.19
findings
may
first
with
increasing
dethe character
Pigmentary
closely
initial
consistent
is characterized
ophthalmoscopic
the
patient’s
as representative
related,
the two
The
or very
as in our patient,
pigmented
dots and the lesions
become
as
albescens.
Later,
thus
essentially
white
On
the
regarded
albescens,33
small
features.
prompted
were
differences.
punctata
is stationary,
and
First
and
reported
it
syndrome.
syndrome.
of numerous
regresses
present,
retina
These
were
then
considered
of the retina.
While
closely
condition
Rarely,
are
ataxia
in that
limits
in
performed.’
patient
of retinitis
fundus
a neces-
feature.’
which
fundamental
name
is
of the
in the
been
Refsum’s
of degeneratio
punctata
pigment
appeared
and
retinal
lesions.
degeneration
have
have
is not
“heredopathia
Occasionally,
description
examination,
the
of
ataxia
increase
a significant
retina
elements
nystagmus,
from the clinical
standpoint.
as the blood
cholesterol,
admission,
of the
mentary
cavus,
in Refsum’s
signs
ophthalmologic
hospital
an
within
normal
they have been
reported
The
is normal.
between
cussed
is remarkable
determinations,
such
not
cases
without
original
is not
resemblance
name
of Friedreich’s
as pes
the
our patient,
are
drome
on whom
by
therefore,
familial
polyneuropathy.1’39’4#{176}
is observed
abnormalities,
other
degeneration
a diagnosis
examination
with
the
13OSHES
degeneration.
recognized
under
pigmentary
that
differ
well
of the
cerebellar
when
AND
designation,
process
and
a
Refsum39
a peripheral
proteins
cases
of
Such
hereditary
it is characterized
so severe
fluid
of
is observed
Sigvald
an atypical
resembling
a degenerative
form
part
polyneuritiformis”,
is difficult.
SCHWARTZ
In
even
the
presare
ab-
some
in-
disappear.2
found
in association
progressive.
Therefore,
with
the
these
findings
illustrate
\Valsh’s
suggestion
that
retinitis
punctata
sents a type of retinitis
pigmentosa.49
Moreover,
the evolutive
his proposal
that when
cases
in which
pigment
is not found
albescens
reprechanges
support
are subjected
to
repeated
occur
examinations,
majority.9
Certain
patient
glucose
aspects
development
of the
metabolism
diverge
from
the normal
is striking
as demonstrated
or subnormal
levels
following
test dose.
The
significance
of
presence
cose
and
of the
tolerance
other
curve
the
this
available,
in pigment
of carbohydrates,
in many
respects.
by the time
metabolic
was
increase
fats,
The
required
and
in a great
copper
in our
increased
tolerance
to
to return
to normal
oral or intravenous
administration
observation
is difficult
to evaluate
disturbances.
this
Initially,
was
interpreted
when
only
the
of
in
oral
as a consequence
the
the
glu-
of
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHROCYTOSIS,
an
RETINA
abnormality
primary
in the
of the
oral
xylose
excreted
of the
pentose
d-xylose
similarity
The
was
the
as seen
any
time
the
levels
this
been
of
and
of
blood.
specific
other
for
be
Sometimes,
signs
or
ent
in our
patient.
and
other
signs
been
case
From
absorption
as
long
values
may
absorption
existence
of
an
necessarily
is well
factor
the
known
that
en-
affecting
its
con-
may
additional
he
finding
several
in
years
stretch
disease
group
abnormal
that
accompan-
of
a greatly
ring,
evidence
are
are
deficiency
which
are
not
metabolism
of
known
in our
in which
of
amino
not
of cirrhcsis
lacking.
and
cliniappar-
of the
In
sensory
to be
movedisease.
Other
are
Wilson’s
changes
not
found
in
reported
Wilson’s
disease
of ceruloplasmin,
is now
present
of diseases
rare
been
sustained
manifestation.
\Vilso’s
involvement
reflexes
not
on
cases
only
of
has
tremor
certain
as the
sugggestive
frequent
and
accepted
symptom
aminoaciduria48
with
It
degeneration
Kayser-Fleischer
of the
the
is not
primary
is the
is well
extrapyramidal
of Wilson’s
a review
associated
It
for
The
that
low
fat
of copper,
which
in one instance
exceeded
1 mg.
excretion
in the absence
of proteinuria
is considered
of muscle
the
carotene
suggestive
of a deficient
is corroborated
by the
confirm
fat
blood
however,
lipids.
defective
to other
Although
the
cholesterol
of
importance
The
described.
and
further
is the
related
cholesterol.13
findings
of
highly
finding
lowered
Moreover,
laboratory
disturbances
served,4’
of organic
or adrenal
autonomic
blood
sugar
abnormalities.
of fat absorption,
The
nonradioactive
cholesterol
not
system.#{176} How-
stools,
emphasized,
presenting
it persists
cal
are
this
to
did
function.
be
hepatolenticular
the
closely
of the
absorption
condition.’#{176}’32
may
patient
instances
nervous
essential
tests
extent,
still
to utilize
is common
of the
nervous
shows
substance
of fundamental
in any
ment
may
body
the
to be more
inspection
The
raised
urinary
excretion
This increased
highly
that
in
is well
glucose
disturbance
phase
low
of this
in the
Probably
This
It should
impaired
the
a moderately
increased
24 hours.
of the
transport
utilization.
metabolism.
synthesis
centraticn
test.
only the
of rapid
lipid
of
dogenous
every
also
in the
exceedingly
the
consequence
ease,
fats
measures
instances
alteration
by
lipids
of signs
tagged
test
in
tests
to a disturbed
A levels
and absorption
of fats.
To a certain
radioactive
for
ability
apparent
seems
tests.
malabsorption
important
diseases
patient
than
metabolism
as this
appear
in organic
in our
is an absence
and vitamin
absorption
it is
manifestations
described
alterations
The
there
clinical
phenomenon
biochemical
tests.
respect,
dose
is a frank
severe
hepatic
disease,
pituitary,
thyroid
) or functional
( alimentary
hyperinsulinism,
glycosuria
) spontaneous
hypoglycemia.
Low
renal
have
intravenous
this
of
test
tolerance
deficit
increased
result
amount
the
there
glucose
intestinal
absorption
obvious
the
tumors,
hypofunction
imbalance,
not
In
islet
cortical
ever,
in the
conditions.
at
the
for
it. The
of
Furthermore,
in
immediate-
against
ingestion
intravenous
as a test
as it occurs
dismissed
procedure,
the
values.
and
a selective
further
intestine
be
In this
1603
NEUROPATHY
are
following
oral
former
Nevertheless,
( pancreatic
is normal.
expected
the
the
cannot
observations
hours
the
of
of the
carbohydrates
show
five
above
curves
complicating
numerous
test
the
from
possibility
laboratory
tolerance
unreliability
exist,
This
other
during
in
known435
are
of the
ATAXIC
of glucose
states.
some
DEGENERATION,
absorption
malabsorptive
ly, although
ied
PI(;MENT
always
liver,
dishave
ob-
in nearly
patient.
neurologic
acids,
manifestations
carbohydrates
or
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1604
lipids,
it appears
cussed.
that
Nevertheless,
differences
numerous
disease
biochemical
differ
) ,18
closely
infantile
disease
) ,24 and
late
called
cerebral
from
cellular
abnormality
characterized
by
cholesterol
blood
the
occasion,
deposition
indication
patient
was
for
therefore,
it seems
that
may
h’ematologic
exist between
manifestations.
is abnormal
in patients
an
state
these
patients
ment
show
indicates
persist
tendons
for
child.
Whereas
minerals
of these
laboratory
by
the
who
the
have
produce
clinical
carbohydrates
afflicted
essential
fatty
support.80’47
ly dependent
surface
examined
progress.29
served.45
been
shown
of essential
The
perimental
nervous
production
to
and
have
the
development
of
Burr7
not
then
the
composed
the
the
vitamins,
of long
that
has
of lipids.
electrokinetic
unsaturated
rich
in
deficient
rats
lipids,
tissue.
by
continuously
fatty
In
seem
particulargained
are extremepurposes.
The
When
extracted
behavior
of
changes
the
acids.
which
adult
the
studied.
extreme-
the intact
erythrocyte.’6’8’
fragility
of erythrocvtes
is followed
nervous
may
of proteins,
the ill effects
fat
system
is also
therefore,
apparent,
of
idea
of
of
development
that
function
in
develbp-
been
extensively
investigations
are
to he similar
to that
fatty
acids,
an increased
of deficiencies
evidence,
are
bowel
skeletal
systems
involved
in our patient
for structural
and functional
is largely
a suspension,
and
small
clinically
normal
indicated
Since
a structural
of
this
riot
the
our
relationship
disease
of the
All
although
in
childhood;
the
of the
absorption
well known,
It is obvious
that the
on these
substances
of the erythrocytes
in the form
lipids
has
deficiency
related
acids,
celiac
Studies
1930,
Burr
blood
performed
upon
of defective
relatively
membranes”.
the
and the neurologic
and
that vitamin
A absorption
with
ly suggestive.
In
However,
during
of mucosa
of lipids
in the human
have
available
data
from
biochemical
“abnormal
a
are
and
and the rare
as hepatosplen-
disease
in
are
so-
but
and differxanthomawith
signs
of
instances,
to comment
standing
deprivation
Nevertheless,
the
to possess
some
alterations
effects
prominent.5’
are
syndrome
indicate
biopsies
process,
of the
present.
They
of cerebral
procedures
point
of its natural
and
group
to be
symptoms
celiac
abnormalities.29
pathologic
this
normal,
In
of
been
Peroral
consistent
the
and
history
dis-
disorders.
malabsorption
Recent
studies
of health.
a retardation
years
the
at this
the
In
(lisease,’5
gargoylism,35
need
only be mentioned
of
mani-
( Spielmeyer-Vogt
to allow
recognition
In cerebrotendinous
is often
associated
eyelids.
feature
appropriate
show
that
and
The
and
( Tay-Sachs
consistently
symptoms
many
suggested
apparent
are
clinical
patient.
juvenile
idiocy.27
distinctive
our patient.
disease
Niemann-Pick
disease42
a distinctive
is such
The
)
dismakes
glycogenosis
by
infantile
lipids
cerebellar
in
herein
involved
our
in
of lipid
metabolism
appears
simultaneous
occurrence
of
is elevated.’7
form
of Gaucher’s
omegaly
observed
) amaurotic
the
syndrome
characterized
congenital,4
disease
disease
the
galactosemia,3144
are
not
in
( Bielschowsky
( Kufs
On
are
their
clinical
picture
is sufficiently
entiation
from
that
observed
in
tosis,3#{176}the progressive
cerebellar
cholesterol
infantile
to
BOSHES
AND
mechanisms
syndrome3
those
lipoidoses,
disease.
related
disease),12’2
which
less
late
ocular
are
disturbances
festations
ease
they
the diversity
of biochemical
readily
apparent.
( Folling’s
) ,“ and Hartnup
Phenylketonuria
( Gierke’s
ly
SCHWARTZ
MIFR,
and
these
In
is ob-
The
are
animal,
ex-
closely
little
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ACANTHROCYTOSIS,
change
RETINA
is detected
acids
are
animal,
When
“un
and
specialized
and
therefore
DEGENERATiON,
Mile.
constituant
the nerve
the hexaenes
The
PIGMENT
Ic Breton
suggests
metaboliquement
cells receive
in the brain
meml)rane
on
by
these
the
unsaturated
cells.
fatty
In the
the expense
of other
normal
values,
death
Schwann
cells
for
Sul)staIlceS
the
in these
at
their
1605
NEUROPATHY
that
stable”
their
supply
fall to half
formed
dependent
ATAXIC
its
is also
tissues.m
occurs.#{176}
rich
adequate
young
in
lipids,
an(l
structure
tunction.
enzymes
Several
longing
to the
patient.
Although
normalities,
of our
involved
acid
many
their
or
neurologic
childhood
they were
is extremely
glucose,
been
be
including
studied
postulated
cannot
disease.
In
because
the
gastrointestinal
meaning
of
that
one abnormal
stimed
that
allele
will
those
instances
be
some
in the
serum
the
enzymatic
for
predicted
at
the
are
he-
of our
ab-
present
stage
clinical
maternal
side;
parents
both
the
other,
are
homozygous
conclusion,
chemical
ultimately
prove
reported,
who
example
an
to
gations
or to the
continuing
of an
is further
in
of the
ataxic
erythrocytic
Bassen
developed
malformation
in-
is
the
the
of
The
cellular
patient
will
herein
metabolism,
previous
is an
observations
Whether
metabolism
or to the
remains
bio-
anomalies
origin.
copper
of
a recessive
technics
hereditary
on
syndrome.
of
syndrome.’4’15’22
neuropathy,
of the
capable
clinical
of
im-
therefore,
but
suggestive
by
the
accepted,
normal,
and
even
and Kornzweig’s
in understaiicl-
helps
it
advance
fat
retinal
for
the
dis-
are
rel-
degenera-
further
investi-
to determine.
Su
Clinical
this
carbohydrate,
it is
of
syndrome,
he
abnormal
the
if
preseiice
It can
supported
char-
metabolism’.5
If it is as(lefective
vision
observed
pttiet1t.
One
neuropathy
metabolic
signs
clinical
of our
ataxic
and
underlying
cholesterol
in the
pathogenesis
changes,
an
concept
low
observed
to the
the
during
dismissed
the
is highly
constitutional
obvious
This
exceedingly
turbances
have
shows
of this.
with
many
the
complete
fimlly
all
of
Nevertheless,
phenotypicallv
the
diarrhea
easily
support
Further,
side.
and
information
that
investigation,
he
of the
parents
and
with
available
of
In
comment.
Although
their
interpretation
circumstances,
paternal
heterozgous
mode
of inheritance.
It is to be expected
not
(lefect
in normal
neuropathy
and
in the
impairment
descendants
the
ought
variants
the
episodes
regarding
of all, this would
of the disorder.4
on
distinctive.
manifestations
is unavailable.
imnusual
absence
of consanguinity
of progressive
visual
that
the
information
cause
some
of ataxic
plications
are obvious.
First
report
of a familial
incidence
having
respect,
are
overt
mother
deserve
some
systemic
phenomena,
disor(ler
tinder
family
the syndrome
showed
no
ol)servation
“except
patient’s
ing the
stances
this
reliable
this
considered
in our
aspects
of
those
afflicted
difficult
of
potential
tive
can
meaning
observed
in our patient’s
not followed
by any other
acteristics
evant
of
have
mechanisms
eventual
of the hereditary
the parents
of
ocular
of
breakdown
cycle,
knowledge.
Certain
instances,
In
the
in
tricarboxylic
and
laboratory
ol)servations
male
who
had
a celiac
syndrome
veloped
a pigmentary
degeneration
MMABY
are
reporte(l
(luring
childhood
of the retina
and
in
an
and
18 year
old
subsequently
a progressive
ataxic
white
deneur-
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1606
MIEB,
opathy.
The
sis.
clinical
The
red
show
a peculiar
manifestations
cells
are
malformation,
similar
to
SCHWARTZ
described
those
of
AND
BOSHES
as acanthrocyto-
four
previously
reported
cases.
Lahoratcry
studies
characterized
absorption
per,
of certain
many
vital
between
biochemical
tolerance
to
the
facts
in the
remain
These
defective
increased
enzymes
clinical
abnormalities.
carbohydrates,
hypocholesterolemia,
elevation
Although
many
increased
of lipids,
and
exists
demonstrate
by
urinary
are
intestinal
excretion
of cop-
serum.
unknown,
it is suggested
manifestations
and
the
that
metabolic
a relationship
features
of
this
syndrome.
SUMMABIO
Es reportate
de 18 annos
observationes
de etate
que
subsequentemente
disveloppava
progressive
neurcpathia
peculiar
que
clinic
in
ataxic.
es describite
le
presente
INTERLINGUA
IN
clinic
e lahoratorial
habeva
tin syndrome
sub
caso
tin
degeneration
Le
erythrocytos
le termino
es
in un
celiac
simile
masculo
su
pigmentari
in
blanc
e qui
e tin
retina
un
Le
quatro
racia
pueritia
del
monstrava
acanthrocytosis.
a illos
de
durante
malformation
manifestationes
previemente
publicate
reportos.
Studios
laboratorial
characterisate
fective
intestinal
urinari
Ben que
presentate
de
multe
de
cupro,
lipidos,
e tin
metabolic
anormalitates
tolerantia
de iste
pro
biochimic.
hydratos
de
hypocholesterolemia,
elevation
del
factcs
de importantia
ii existe
tin relation
que
characteristicas
multe
augmentate
un
absorption
excretion
es
demonstra
per
titro
un
de
fundamental
inter
le
certe
Istos
carbon,
es
un
de-
augmento
enzymas
del
in
le
sero.
remane
incognite,
lc these
manifetationes
clinic
e le
syndrome.
ACKNOWLEDGMENTS
\Ve
to
are
I)r.
indebted
to
Edward
assistance
Dr.
Kronfeld
partictmlarly
We
in
the
grateful
A.
the
referral
Grossman
of
and
acknowledge
herein
Dubin
We
of
and
reported
for
wish
to
determinations
cooperation
of the atmdiological
de la Torre
for his
patient
Alvin
also
the
the
Mr.
of the laboratory
procedures.
Mr. H. G. Weinstein
for the
performance
Dr. Rohando
to
for
R.
and
Beutler
assays.
Canter
Dr.
performance
Ernest
ccrtmhoplasmTiin
Gerald
Peter
Fitzsimmons,
in the
Heller,
Dr.
their
thank
of
l)r.
James
speech
Dr.
to
Jerger
the
Paul
enzymes
evalimations.
contributions
and
valuable
genetic
and
and
Dr.
We
are
studies.
REFERENCES
1.
Ashenhurst,
Milhiken,
T.
affecting
a
Brit.M.J.
2.
NI.,
E.
C.:
NV.
brother
S.:
bescens:
Report
the
disappeared.
dots
409-413,
D.
and
4.
syndrome
and
two
of
N.,
itary
cases
in
C.
5.
which
8:
aminoaciduria
1956.
E., Harris,
J.
Jepson,
features,
skin
and
other
Lancet
H.,
Heredrash
with
6.
B.:
ataxia,
and
C.:
ple
manifestations.
constant
bizarre
2:421.-’
7.
8. Chediak,
of
disease:
metabolism
with
Am
Ic:
Cited
by
(Reference
C. 0.
and
role
nutrition.
1930.
Burr,
in
pigmnntosa.
An
in-
multi-
.J. Mcd.
22:
1957.
E.
251
L.:
1950.
error
Breton,
A.
erythrx’yte
retinitis
Wilson’s
born
p.
the
5:381-387,
A.
Beam,
Kornzweig,
of
747-757,
Dent,
A.
of atypical
Blood
al-
Arch.Ophth.
cerebellar
biochemical
F.
a case
sisters.
ptmnct,ita
2
Bassen,
Malformation
1958.
Retinitis
E. NV. end
pehlagra-like
temporary
428,
H.
1932.
Hart,
renal
J.
Refsum’s
2:415-417,
Atkinson,
3. Baron,
Miller,
Sinclair,
H.
NI.,
#43).
and Burr, Ni. M.: On nature
of fatty
acids
essential
in
J.Biol.Chem.
86:587-621,
M,:
Nouvelle
anorrialic
leu
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
RETINA
ACANTHROCYTOSIS,
cocytaire
de
PIGMENT
caractere
DEGENERATION,
22.
constitutionnel
et familial.
Rev.
henlat.
7:362-367,
1952.
9. Crawford,
T.: Glycogen
disease. Quart.
J.Med.
(New
Series)
15:285-298,
1946.
10. Cumings,
J. N.: Copper
storage in hepatolenticular
degeneration
and
allied
diseases.
11.
Proc.Roy.Soc.Med.
154, 1954.
I)onohue,
NV.
Chediak-Higashi
L.
familial
disease
with
clusions
in the
leukocytes
tutional
stigmata:
with
necropsy.
1957.
12.
13.
FoIling,
A.,
amid E.
Scientific
Friedmnan,
Goldner,
mia
in
NI.
B. F.
and
on
teriniqtmcs
Les
dim
Congress
Neurologique
Rev.neimrol.
89:322-324,
Glohus,
J. H.: Amanratie
J.Mt.Sinai
Hosp.
(New
503,
303,
H.:
cehiac
Elec-
Amiierican
red
24:447-
choles-
nerveux.
reported
of
qualitative
peroxidase.
59:315-332,
structural
fatty
acids.
Conference
1953.
of
family
idiocy.
NI.
York)
9:451-
don,
31.
49:301-
Tohoku
1954.
32.
1954.
abnormality
J.Exper.Med.
of
ever
Lipids.
of
the
function
Nlason,
of
essential
F’ourth
International
of Biochemiicah
Problems
Essential
Sinclair,
Ed.),
Fatty
pp.
Butterworth’s
Acids
208-215,
Scientific
(H.
Lon-
Publica-
1958.
H.
H.
and
Tumrner,
NI.
E.:
Chronic
galactemia;
report
of case
with stimdies on carbohydrates.
Am.J.
1)is.Child.
50:359-374,
1935.
Nlatthews,
NV. B., Milne,
NI. 1). and
Bell, M.: The
metabolic
disorder
in
hepatolenticumlar
degeneration.
Qumart.
J.NIed.
33.
Transactions
Pediatric
Society,
SixtyNinth
Annual
Meeting.
A.NI.A.J.Dis.
Child.
98:471,
1959.
NIacMilIan,
A. L. and Sinclair,
H. NI.:
International.
on
107:409-414,
disease.
The
V’
gigantism
first
case
de-
1957.
1960.
The Spino-Cerehehlar
Oxford,
Blackwell
Congenital
granules,
and
Am.J.Psychiat.
E.:
observations
Publications,
Higashii,
0.:
peroxidase
of
NI.
1907.
Greenfield,
J. C.:
Degenerations.
Scientific
-:
183-187,
human
J.A.M.A.
1950.
phenylalanine
in
phenylpyruvic
ohigopiirenia.
Proc.Soc.Exper.Biol.&
Med.
75:83-86,
1950.
Familial
idiocy
dime to neumronal hipidosis
(so-called
late amaurotic
idio-
tions,
Further
ptmnctata.
of
on
Lowe,
C. U., Crimise,
B., Doray,
B.,
Rubin,
C. E. and Barndborg,
L. L.:
Correlation
between
intestinal
absorption
and
mucosal
histology
in
patients
apparently
recovcred
from
1942.
Gradle,
retinitis
emphasis
Arch.Neurol.
63:681-712,
Excretion
Feb.
hipoidoses
systeme
Psychiat.
with
of disease.
29.
30.
A.:
cases,
Kornzweig,
A. L. and
Bassen,
F. A.:
Retinitis
pigmentosa,
acanthrocytosis,
and heredodegenerative
neumromumscumlar
disease.
A.M.A.Arch.Ophth.
58:
pp.
1941.
Giampalmo,
10
28.
A.M.A.
J.Cen.Physiol.
1941.
1950.
1960.
Ponder,
61:327-338,
frumstes
cy).
Hypocholestere-
studies
cells.
27.
(C.
1956.
H., Zymaris,
communication.
Furchgott,
457,
21.
&
-:
.:
Eds.),
steatorrhea.
netmromntmscu59:
A.M.A.Arch.Ophth.
rivatives
Lipids
105:136-144,
Atypical
(hipochondrodystrophy);
of
formes
Btmtterworth’s
C.:
idiopathic
Personal
-:
of
heredodegenerative
disease.
study
26.
H. F.:
acanthrocytosis
lar
Gargoylism
in-
Rtmnd,
he Breton,
Publications,
I. S., Cohn,
and
l)hOOd
20.
an(l
Falls,
pigmentosa,
and
-:
consti-
of a case
20:416-430,
London,
trophoretic
19.
L.
R. S. and
A.M.A.J.Dis.Child.
25.
4
0.
Arch.Int.Med.
18.
lethal
1607
NEUROPATHY
818-820,
1958.
Jervis,
C. A.: Amaurotic
family
idiocy;
study
of case
of late infantile
type.
A.M.A.J.Dis.Child.
60:88-101,
1940.
-:
Juvenile
amaurotic
family
idiocy:
6 cases
of its occurrence
in siblings.
NV.:
A
an(l
Report
Pediat.
Mohr,
331-340.
17.
24.
anomalotms
Problems
Popjak
15.
16.
23.
Oligophrenia
phenylpyrouvica.
Oslo,
Dybwad.,
1945.
Frazer,
A. C., Pover,
W. F. H., Sammons,
H.
C.
and
Schneider,
R.:
Further
observations
on the absorption of fat. Proceedings
of the Second International
Conference
on Biochemical
14.
H.
Jampel,
retinitis
47:152-
and
Bain,
syndrome:
ATAXIC
Nlooren,
gischer
baden,
21:425-446,
1952.
A.: F#{252}nfLustren
ophthalmohoNVirksamkeit,
p. 216.
\ViesJ. F. Bergmann,
1882.
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1608
34.
MIEII,
J. H. and Womak,
C. R.: Cliicose tolerance
tests;
relative
validity
of 4 different
types of tests. Texas
J.
Moyer,
NIed.
.35.
46:763-768.
Norman,
R.
form
idiocy.
j.Neurol.&
ogy
system,
of
and
In Neuropathol-
Creenlicld,
A.
W’.
\IcMencmey
Arnold
H.
i. 309.
Blackwood),
the
injury
C.
45.
Meyer,
London,
(Ptmbhishers)
Ltd.,
E.:
Hemolysis
and
Related
Phenomena,
Pp.
131, 251. New York,
Crune
& Stratton,
1948.
Raskin,
H. F., Kirsner,
J. B. and Palmer, NV. I.: Selected
practical
tests
of
function.
43:341-356,
Refsum,
S.:
not
tion
A
hitherto
to
atactica
(lescribed.
the
hereditary
diseases
system.
Acta
Sumppl.
38:1-303,
A
stumdy
clinical
of
psychiat.et
S., Sahomonscn,
NI.: Heredopathia
neuritiformis
in children,
J.Chin.Invest.
K.,
the
of
nervous
48.
neurol.,
J.Pediat.
L. and
Skatatactica
polypreliminary
38:1672-1682,
B.
1959.
and
1958.
Perlstein,
NI.
A genetic
eryth-
Blood
7:577-
malformation.
Smedley-Nlaclean,
I. and
Hume,
disease
of
E.
rats.
NI.:
The
fat-starved
rat.
1941.
Uzmnan,
L.
and
l)enny-Brown,
D.:
Amninoaciduria
in
hepatolenticumlar
degeneration
(Wilson’s
disease).
Am.
J.M.Sc.
215:599-611,
1948.
of
fat
in
the
35:990-995,
49.
\Valsh,
F.
50.
Baltimore,
The
Williams
&
Wilkins
Co., 1957.
\Vilder,
R. NI.: Clinical
Diabetes
Niel-
B.:
Clinical
Neumro-Ophthal-
mology.
35:335-343,
E.: l)ie Cehirnver#{228}nderungen
Morbums Caumcher
des Siiumglings.
degeneration
L16:484-
1952.
Biochem.J.
the
De-
Publications,
Fisher,
Acanthrocytosis:
storage
contribu-
Science
Scientific
Singer,
Fat-deficiency
1949.
Sass-Kortsak,
A., Chcrniak,
NI., Geiger,
I). W. and Slater,
R. J.: Observations
on ceruloplasmin
in NVilson’s
disease.
Schairer,
beim
47.
1946.
Refsum,
vedt,
communication.
poly-
D.:
in patients
saemia.
Biochem.J.
62:34-40,
1955.
Sinclair,
H. NI.: Effects
of deficiency
of
essential
fatty
acids.
Deficiency
of
essential
fatty
acids in lower
animals.
Fotmrthi
International
Conference
of
Biochemical
Problems
of
Lipids.
Essential
Fatty
Acids
(H.
NI. Sinclair,
Ed.):
pp. 249-256.
LondOn,
Butter-
rocytic
syndrome
1948.
Gitihin,
1952.
591,
famuilial
and
Schwarz,
V., Colberg,
L., Komrower,
C.
NI. an(l Holzer,
A.: Some disturbances
of
erythrocvte
metabolism
in galacto-
A.:
NIed.Clin.N.
BOSHES
315:395,
H.
of ceruloplasmin
worth’s
46.
1959.
Heredopathia
neuritiformis.
42.
of
485,
44.
Ponder,
Am.
41.
(New
life.
gastrointestinal
40.
family
Psychia.
Anat.
I.
with
hepatolenticular
(Wilson’s
disease).
con-
ama’mrotic
birth
Norman,
W.
Edward
1958.
39.
A
early
J.
(by
NI.
and
38.
of
N.:
B.
diseases
R.
Wood,
4:175-190,
1941.
NI.: Nialformriations
Norman,
nervous
37.
and
path.
Scheinberg,
ficiency
1950.
NI.
genital
Series)
:36.
Arch.
43.
AND
SCHWARTZ
littms
and
Hyperinsimlinism,
Philadelphia,
1940.
51.
\Vilson,
London,
hishers)
S.
NV.
A.
K.:
Buttenvorth
Ltd.,
1954.
B.
p.
403.
Saunders
Neurology,
and
Co.,
II.
(Pumb-
Vol.
Co.
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1960 16: 1586-1608
Acanthrocytosis, Pigmentary Degeneration of the Retina and Ataxic
Neuropathy: A Genetically Determined Syndrome with Associated
Metabolic Disorder
MANUEL MIER, STEVEN O. SCHWARTZ and BENJAMIN BOSHES
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