CLINICAL REPORT
Guidance for the Clinician in Rendering Pediatric Care
Congenital Brain and Spinal Cord
Malformations and Their Associated
Cutaneous Markers
Mark Dias, MD, FAANS, FAAP, Michael Partington, MD, FAANS, FAAP, the SECTION ON NEUROLOGIC SURGERY
The brain, spinal cord, and skin are all derived from the embryonic ectoderm;
this common derivation leads to a high association between central nervous
system dysraphic malformations and abnormalities of the overlying skin. A
myelomeningocele is an obvious open malformation, the identification of which
is not usually difficult. However, the relationship between congenital spinal
cord malformations and other cutaneous malformations, such as dimples,
vascular anomalies (including infantile hemangiomata and other vascular
malformations), congenital pigmented nevi or other hamartomata, or midline
hairy patches may be less obvious but no less important. Pediatricians should
be aware of these associations, recognize the cutaneous markers associated
with congenital central nervous system malformations, and refer children with
such markers to the appropriate specialist in a timely fashion for further
evaluation and treatment.
INTRODUCTION
All pediatric care providers, regardless of specialty, encounter children
with manifestations of an underlying congenital, or dysraphic, brain or
spinal cord malformation. Identifying and treating these dysraphic central
nervous system (CNS) malformations is important to prevent subsequent
neurologic deterioration from spinal cord tethering, bacterial or chemical
meningitis, or compression from growing mass lesions. The common
embryonic derivation of CNS and skin from ectoderm creates an
association between CNS malformations and certain cutaneous markers
that, when recognized, affords an opportunity to identify and
prophylactically treat the underlying CNS malformation. The purpose of
this clinical report was to provide pediatric care providers with an
overview of these CNS malformations and their cutaneous manifestations,
discussing (1) the early embryology of the CNS as it relates to the
embryogenesis of these malformations; (2) the pathophysiology of
neurologic deterioration from spinal cord tethering; (3) a description of
common dysraphic malformations; (4) the relationship between
PEDIATRICS Volume 136, number 4, October 2015
abstract
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Clinical reports from the American Academy of Pediatrics benefit from
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Pediatrics may not reflect the views of the liaisons or the
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The guidance in this report does not indicate an exclusive course of
treatment or serve as a standard of medical care. Variations, taking
into account individual circumstances, may be appropriate.
All clinical reports from the American Academy of Pediatrics
automatically expire 5 years after publication unless reaffirmed,
revised, or retired at or before that time.
www.pediatrics.org/cgi/doi/10.1542/peds.2015-2854
DOI: 10.1542/peds.2015-2854
Accepted for publication Jul 30, 2015
PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).
Copyright © 2015 by the American Academy of Pediatrics
FROM THE AMERICAN ACADEMY OF PEDIATRICS
cutaneous markers and dysraphic
malformations; and (5) the
relationship between other related
malformation sequences and
dysraphism.
NORMAL EMBRYOLOGY AND THE
PATHOPHYSIOLOGY OF SPINAL CORD
TETHERING
Dysraphic CNS malformations arise
during the second, third, and fourth
weeks of human embryogenesis,
generally referred to as the period of
neurulation. The neuroectoderm is
first visible during the second week
as a pseudostratified columnar
epithelium attached to the cutaneous
ectoderm around its periphery
(Fig 1). During primary neurulation,
the neuroepithelium elevates about
a midline central furrow; the 2 sides
(the neural folds) then converge and
fuse, forming a closed neural tube.
The adjacent cutaneous ectoderm
separates from the neuroectoderm
(called dysjunction) to form the
overlying skin. The last sites to close
are the anterior neuropore at the level
of the future lamina terminalis
(located just above the optic chiasm)
and the posterior neuropore located at
the second sacral spinal cord
segment (S2). Dysraphic
malformations involving the brain
and spinal cord down to the S2
segment arise from disordered
primary neurulation. Primary
neurulation is complete by the end of
the fourth week.
The spinal cord below S2 and the
filum terminale are formed from
secondary neurulation, which begins
late in the fourth week and involves
the formation and subsequent
fusion of multiple tubules of
neuroepithelial cells from the caudal
cell mass. Secondary neurulation
underlies a fully formed cutaneous
ectoderm (skin) so that disorders of
secondary neurulation give rise to
“closed” malformations. Because the
caudal cell mass also gives rise to the
sacrococcygeal spine, hindgut, and
urogenital systems, dysraphic
e1106
malformations often coexist with
malformations of these structures.
As they are generated, the spinal cord
and surrounding spine are the same
length; however, beginning at the
sixth embryonic week, the spinal cord
grows more slowly than the
surrounding vertebral column,
making the conus medullaris (CM)
appear to “ascend” relative to the
surrounding spinal column. This
ascent of the conos medullaris places
the conus opposite progressively
higher vertebral levels so that, by
2 months after birth, the CM ends most
commonly opposite the disc space
between the first and second lumbar
vertebrae (L1-L2 disc space),1–3 with
the lowest normal level (95%
confidence limits) being opposite the
FIGURE 1
Scanning electron microscopy of primary neurulation in chick embryos. A, The neural plate exists
initially as a midline layer of pseudostratified columnar epithelium. B, The neural groove develops in
the midline of the neuroectoderm and the neural folds begin to elevate. The cutaneous ectoderm is
attached laterally to the neuroectoderm. C, The neural folds begin to converge toward each other. D,
The neural folds have fused and the cutaneous ectoderm has separated to form a layer of intact skin
overlying the neural tube. Reproduced with permission from Gilbert SF. Developmental Biology. 7th ed.
Sunderland, MA: Sinauer Associates; 2003:394.
FROM THE AMERICAN ACADEMY OF PEDIATRICS
middle third of the L2 vertebra.4 A
CM that ends below the middle third
of L2 is radiographically tethered,
although whether this leads to the
clinical features of the tethered cord
syndrome (see next paragraphs)
requires clinical correlation.
Most dysraphic malformations likely
result from disordered primary or
secondary neurulation. For example,
myelomeningocele (MMC) represents
a localized failure of primary
neurulation that results in an open
neural tube that is still attached
peripherally to the adjacent skin
(cutaneous ectoderm); an MMC is
therefore, by definition, an open
malformation leaving the neural tube
exposed on the back. Dermal sinus
tracts (DSTs) may arise because of
failed dysjunction in which a tongue
of skin remains attached to the neural
tube. All dysraphic malformations,
having in common a persistent
anatomic connection between the
neuroectoderm and cutaneous
ectoderm, have the inherent potential
to prevent proper ascent of the CM
and cause “spinal cord tethering.” The
tethered cord syndrome refers to
clinical deterioration resulting from
spinal cord tethering and has been
shown to involve physical stretching
of the spinal cord leading to impaired
blood flow, diminished oxidative
metabolism and glucose utilization,
and metabolic failure at the level of
the mitochondrial respiratory chain.5
The severity and reversibility of these
metabolic disturbances correlates
with the severity and chronicity of the
tethering.
CLINICAL MANIFESTATIONS OF SPINAL
CORD TETHERING
The clinical signs and symptoms of
spinal cord tethering are somewhat
age dependent. Infants are commonly
asymptomatic and the malformations
may be recognized solely by their
associated cutaneous abnormalities
discussed later in this article.
Symptoms in older children may
include pain, sensorimotor
PEDIATRICS Volume 136, number 4, October 2015
disturbances of the lower limbs, and
difficulties with bladder and/or
bowel control. Long-standing
untreated tethering can ultimately
result in progressive musculoskeletal
deformities and/or scoliosis.
As the child ages, muscle weakness
and gait disturbances may develop. A
previously ambulatory child may
regress, may experience running
becoming more difficult, and might
not keep up with other children
during athletic activities. Muscle
atrophy may become apparent, with
thinning of calf muscles and/or
“saber shins” that may be
misdiagnosed as Charcot-Marie-Tooth
syndrome. Orthopedic deformities of
the feet and spine deformities, such
as progressive scoliosis and
exaggerated lumbosacral lordosis,
may develop. As the child becomes
more verbal, back and/or leg pain
become a more common complaint.
The pain varies and may be dull and
aching; sharp, lancinating, or
electrical; or dysesthetic in character.
The pain may be aggravated by
flexion and extension of the spine or
by walking or running. Pain in older
teenagers and adults may radiate into
the groin, genitals, and/or perianal
region.6 Objective sensory deficits
may become more apparent as formal
testing becomes more reliable.
Sensory abnormalities generally start
distally in the leg and become more
proximal over time; on occasion,
a “suspended” sensory loss may be
present with preserved sensation
both above and below the area of
abnormality. Difficulties with bowel
and bladder function may become
evident with urinary and fecal
urgency and/or incontinence, urinary
tract infections, dribbling urinary
stream, incomplete emptying, or
inability to void.
People who become symptomatic as
teenagers or adults often have
a history of subtle abnormalities
dating back to early childhood.6 They
may always have been “slow”
athletically, had difficulties with
chronic constipation or were late in
toilet training, had previously
repaired orthopedic deformities or
leg length discrepancies, or had
scoliosis. With long-standing
tethering, the skin of the leg and foot
becomes thin, shiny, and hairless
because of autonomic changes and
lack of trophic influences; areas of
skin breakdown and chronic
discoloration may appear as a result
of poor innervation, sensory loss, and
repeated unrecognized microtrauma.
A characteristic feature of tethered
cord syndrome in adults is the
sudden appearance of new pain and/
or neurologic deficits after a sudden
back stretching, such as during
childbirth, falls onto the buttocks,
vigorous sporting activities, and
automobile crashes.6
OVERVIEW OF SPINAL DYSRAPHIC
MALFORMATIONS
MMC
An MMC is the most common of the
dysraphic malformations and is also
the most serious CNS malformation
compatible with life. MMCs are the
archetype of the neural tube defect
and represent a localized failure of
primary neurulation. The resultant
malformation contains a placode of
neural tissue attached peripherally
to the surrounding skin (cutaneous
ectoderm) as it was in its embryonic
state (Fig 2). The underlying
cerebrospinal fluid (CSF) elevates the
placode on a dome or sac; if the
thin tissue on the dome tears, the CSF
is allowed to escape and the
malformation is flat. Whether
domed or flat, there will always be
a placode on the skin surface and,
by definition, MMCs are, therefore,
open malformations.
The incidence of MMC has been
declining over the past several
decades, in large measure because of
periconceptional folate
supplementation,7 with a current
birth prevalence in the United States
of approximately 0.2 per 1000 live
e1107
births.8 The prevalence of neural tube
defects in the United States varies by
ethnicity, being highest among
Hispanic infants at 1.12 per 1000 live
births, lowest among African
American and Asian infants at 0.75
per 1000 live births, and intermediate
among non-Hispanic white infants at
0.96 per 1000 live births.9 The
incidence of MMC also varies
worldwide; for example, the
incidence among continental
European countries varies between 1
in 1700 to 10 000 live births, whereas
the incidence in the British Isles
varies from 1 in 260 to 400. Ireland
has the highest rate in Europe, at 1 in
200 live births.10 MMCs vary in
appearance, size, and location;
neurologic impairment generally is
related to a larger size and more
cranial location. Other associated
malformations include hydrocephalus
in 70%, Chiari type II malformation in
98%, syringomyelia in 40% to 80%,
and spinal cord tethering in virtually
all. It is not the intent of this report to
provide details about all of the
neurosurgical aspects of MMCs, as
there are many excellent reviews of
this topic, including an article in
Pediatrics in Review.11
The rare cervical or high thoracic
MMC (also referred to by some as
a cervical myelocystocele because of
its ballooned-out dorsal fluid
collection) is a pedunculated, fullthickness, skin-covered, fluid-filled
sac (usually having thinned,
violaceous skin at its apex) located on
the neck or upper back of an infant
(Fig 3A) and containing a small band
FIGURE 2
MMC. The placode can be seen with its midline
neural groove and is attached to the skin
around its edges.
e1108
of tissue (Fig 3B) composed of
mesenchyme as well as both central
and peripheral neural tissue that
extends through a small defect in the
posterior fascia and dura and
attaches to the dorsum of the spinal
cord. In contrast to the child with the
typical thoracolumbar or
lumbosacral MMC who has
sensorimotor paralysis corresponding
to the level of the malformation,
children with cervical meningoceles
have few if any neurologic
deficits.12,13 It is vital to understand
this point so that parents can be
properly counseled if this condition is
diagnosed prenatally.
Meningocele
A meningocele (Fig 4) is an isolated
full skin thickness sac, filled with CSF
and lacking central nervous issue. On
magnetic resonance imaging (MRI),
the meningocele sac contains only
fluid without any visible tissue. The
frequency of meningoceles is onetenth that of MMCs. Affected children
generally have no neurologic deficits.
Meningoceles have been thought not
to contain tethering elements, but
careful dissection may disclose
a fibrous tract that connects the inner
lining of the sac with the spinal cord;
a meningocele can, therefore, cause
tethering.
through the fascia, posterior vertebral
elements, and dura, and attaches to
the dorsum of the spinal cord.14
Lipomyelomeningocele/
Myelocystocele/Enlarged or Fatty
Filum Terminale
Lipomyelomeningocele,
myelocystocele, and enlarged and/or
fat-infiltrated filum terminale all have
in common some element of fat
within the spinal cord and/or filum
terminale; they may represent
different manifestations of the same
embryogenetic process and are,
therefore, discussed together. A
lipomyelomeningocele (also called
a spinal lipoma) is a malformation in
which a fatty subcutaneous mass
extends into the vertebral canal and
ends as an intramedullary spinal cord
mass. Most spinal lipomas have
a visible fatty mass, sometimes
with an associated capillary
malformation, infantile hemangioma,
and/or dimple (Fig 6). However,
a minority have no associated skin
manifestations.
Lipomyelomeningoceles may be
dorsal (arising from the dorsum of
the spinal cord), terminal (arising
from the filum terminale or the tip of
Atretic Meningocele
An atretic spinal meningocele is rare
malformation consisting of a small,
flat area of dysplastic skin that looks
like and has been referred to as
“scarified,” “cigarette paper,” or
a “cigarette burn”14 (Fig 5). The lesion
is flat or slightly indented, sometimes
painful to touch, and sometimes
surrounded by a cuff of
hyperpigmented skin (Fig 5A) or
a cutaneous salmon-colored capillary
malformation (Fig 5B). There is
usually an underlying fibrous tissue
tract (also called a meningocele
manqué) that, like the fibrous tract of
the meningocele described in the
previous section (and the DST
described subsequently), passes
FIGURE 3
Cervical MMC. A, Lateral view showing fullthickness skin with violaceous apex and no
cerebrospinal fluid leakage. B, Operative view
demonstrating the thin stalk of tissue arising
from a small fascial defect.
FROM THE AMERICAN ACADEMY OF PEDIATRICS
deficits depending on the size and
severity of the malformation.
FIGURE 4
Meningocele, covered with full-thickness skin.
the CM), or transitional (arising from
the junction of the 2 and having both
dorsal and terminal components).15
In a fourth subtype, the spinal cord
actually exits the spinal canal distally
within the fatty mass.16 The fat within
the lipomyelomeningocele is readily
identified as a hyperintense mass on
T1-weighted MRI sequences; caudal
lesions may contain additional tissue
types and appear heterogeneous on
MRI.
Myelocystoceles most commonly
present as full-thickness, skincovered lumbosacral masses (Fig 7)
that sometimes are referred to
erroneously as “closed MMCs.” A
myelocystocele has 3 components
that are visible on MRI scans: (1)
a dilated terminal spinal cord
contained within (2) an even more
largely dilated distal dural sac
(commonly described on MRI as
a “sac within a sac”), and (3) an
adjacent spinal cord lipoma.17,18
Children with myelocystocele may be
normal or have variable neurologic
FIGURE 5
Fatty filum terminale (also called an
enlarged or thickened filum) is an
enlarged filum (defined as .2 mm in
cross-sectional diameter on MRI
scans) that is often (although not
invariably) infiltrated with fat; as
such, some consider the thickened
fatty filum terminale to be a forme
fruste of terminal lipoma.
All 3 of these conditions may arise
alone or in association with caudal
malformations involving other organ
systems, such as anorectal
malformations, cloacal exstrophy,
VACTERL (vertebral defects, anal
atresia, cardiac defects, tracheoesophageal fistula, renal anomalies,
and limb abnormalities), OEIS
complex (omphalocele, exstrophy,
imperforate anus, spinal cord
tethering), and other disorders of the
caudal cell mass.
Split Cord Malformation
A split cord malformation (SCM) is
a malformation in which the spinal
cord splits over a portion of its length
into 2 separate “hemicords” with an
intervening, tissue-containing cleft.
Two types have been described.19
Type I contains 2 hemicords, each
contained with its own separate dural
sac (analogous to 2 legs within 2 pant
legs) and having an intervening
extradural bony or cartilaginous
tethering spike. Type II (previously
Atretic meningocele. A, Scarified “cigarette paper” skin lesion. B, Similar lesion with surrounding
capillary malformation.
PEDIATRICS Volume 136, number 4, October 2015
referred to as diplomyelia) contains 2
hemicords within a single dural sac
(analogous to 2 legs within a single
pant leg) and usually having a fibrous
band of tissue connected to the
surrounding dura. A thickened and/
or foreshortened filum terminale
serves as an additional tethering
element. The most common
cutaneous manifestation of an SCM is
a fawn’s tail or hairy patch on the
back (Fig 8); other less common
cutaneous manifestations include
capillary malformations, DSTs, or
subcutaneous masses.
SCMs can occur in isolation or may be
associated with a variety of other
congenital malformations, including
MMC, lipomyelomeningocele, DSTs,
neurenteric cysts, cervicothoracic
myelocystoceles, sacral agenesis, and
some cases of Klippel-Feil syndrome.
Vertebral malformations are
common, especially in SCM type I,
and most commonly include
hemivertebrae, sagittally clefted
(butterfly) vertebrae, or fused (block)
vertebrae. Visceral malformations
may include enteric duplications,
fistulae, or malrotations; neurenteric
cysts; missing or ectopic kidneys; and
other malformations.20
Lumbosacral DSTs and Innocent
Coccygeal Dimples
A spinal DST is a midline congenital
epithelial-lined tract that can arise
anywhere along the spine but most
commonly occurs at S2 (representing
the posterior neuropore as the
most complex region of caudal
neural tube closure).21 DSTs are
thought to arise embryologically
through incomplete dysjunction,
leaving a tongue of cutaneous
ectoderm attached to the
neuroectoderm during primary
neural tube closure. Spinal DSTs
occur with a frequency of ∼1 in 2500
live births.21 A skin dimple is
present on the flat portion of the
sacrum well above the upper end of
the gluteal cleft.21 The dimple has an
underlying tract of epithelial and
fibrous tissue that pierces the
e1109
most commonly lies within
a centimeter of the coccyx within the
gluteal cleft and usually is invisible
unless the buttocks cheeks are parted
(Fig 9); a finger placed over the
dimple can usually be rolled over the
tip of the underlying coccyx. A good
rule of thumb is that if one draws an
imaginary line between the tops of
the 2 forks of the gluteal cleft,
a dimple at or below this line is
normal, whereas a dimple located
above this line is abnormal. Coccygeal
dimples have no associated skin
abnormalities and are not associated
with any signs or symptoms of
tethering. They are not, nor do they
give rise to, pilonidal sinuses,
dimples, or cysts. Imaging of
coccygeal dimples is not necessary22;
the tract extends from the pit to the
coccygeal tip, well below the end of
the thecal sac, and is not connected to
the spinal cord (Fig 9). Isolated
coccygeal dimples do not require
further workup or treatment.
FIGURE 6
Spinal lipoma. A, Subcutaneous mass with overlying faint pink capillary malformation (NFS or
“salmon patch”). B, An otherwise invisible spinal lipoma associated with an overlying pink NFS with
indistinct borders. C, An otherwise invisible spinal lipoma associated with an overlying raised sacral
infantile hemangioma having distinct borders. D, A PWS.
underlying fascia and posterior
vertebral elements, pierces the dura,
and tracks cranially within the
subarachnoid space to end on the
dorsal aspect of the CM.
FIGURE 7
Large myelocystocele.
e1110
It is important to distinguish the
lumbosacral DST from the innocent
coccygeal dimple or pit, an innocent
finding in ∼4% of the population.22
Generations of physicians have been
taught that a dimple is innocent if
its base can be visualized and
abnormal if its bottom cannot be
seen; this teaching is incorrect. The
presence or absence of a “bottom” to
the dimple has little to do with its
pathologic nature. Rather, it is the
location of the dimple along the
craniocaudal axis that is the most
important feature. As the name
implies, the innocent coccygeal
dimple is more caudally located than
the pathologic lumbosacral DST. It
In contrast, the DST is lumbosacral,
located cranial to the gluteal cleft on
the flat part of the sacrum (Fig 10A).
DSTs are sometimes associated with
surrounding cutaneous
manifestations, such as vascular
anomalies (Fig 10B), tufts of hair
(Fig 10C), skin tags, or subcutaneous
dermoid masses (Fig 10D). These
tracts are always abnormal and
require surgical correction. Spinal
DSTs present clinically in 1 of 5 ways:
(1) the presence of a cutaneous tract;
(2) a CNS infection, such as
meningitis or intraspinal abscess; (3)
aseptic meningitis resulting from
desquamation of epithelial cells from
an associated dermoid or epidermoid
cyst; (4) spinal cord compression
from the growth of an intra- or
extradural dermoid or epidermoid
cyst; and (5) neurologic deterioration
from tethering. Infection is the most
feared complication, both because it
can be highly morbid and because it
generates an intradural scar that
makes excision of the tract much
more difficult without creating
additional neurologic deficits.
FROM THE AMERICAN ACADEMY OF PEDIATRICS
minimizes the risks of subsequent
complications. The tract is completely
excised down to its attachment to the
spinal cord, because removing only
the superficial subcutaneous portion
of the tract does not eliminate
tethering, aseptic meningitis, or
growth of dermoid/epidermoid cysts.
Currarino Triad
FIGURE 8
Fawn tail in child with split cord malformation.
Spinal DSTs may be investigated
using spinal ultrasonography and/or
MRI, although it is important to point
out that the decision to treat is made
solely on the presence of the
pathologic dimple, regardless of
imaging findings. The DST may not be
visualized, and the spinal cord is not
always radiographically tethered
(ie, below the mid-body of L2); even
high-resolution MRI may miss as
many as 50% of DSTs.21 The value of
neuroimaging is, therefore, largely to
look for associated anomalies or the
presence of dermoid or epidermoid
cyst(s) as part of surgical planning.
All spinal DSTs should be repaired
regardless of imaging studies,
because prophylactic treatment
Currarino triad is a very rare caudal
malformation that combines an
anorectal malformation (anorectal
stenosis or agenesis, anorectal
stenosis with rectovaginal fistula, or
anal ectopia), a sacral bony defect
(usually hemisacral agenesis with
“scimitar sacrum”), and a presacral
mass (most commonly a presacral
teratoma or anterior sacral
meningocele, less commonly
a neurenteric or dermoid cyst).23–25 A
genetic linkage can be established in
50% of cases with autosomal
dominant and recessive as well as
X-linked forms having been
described26–28; multiple genetic
mutations involving the HLXB9
homeobox gene have been
described.29 The embryonic
mechanism appears to involve an
abnormality of dorsoventral
patterning within the caudal cell
mass.29,30 Associated dysraphic
malformations are uncommon.30 The
presacral malformation may present
as an enlarging pelvic mass during
childhood or escape detection during
childhood and present in adults,
sometimes during pregnancy when
the meningocele ruptures during
delivery and causes meningitis.
Caudal Agenesis (Including Sacral
and Lumbosacral Agenesis)
FIGURE 9
Benign coccygeal dimple within the gluteal cleft
and overlying the tip of the coccyx.
PEDIATRICS Volume 136, number 4, October 2015
Caudal agenesis is a disorder in which
the caudalmost portions of the spine
and spinal cord do not develop
properly (dysgenesis) or at all
(agenesis). Most commonly, the
sacrum (the second sacral segment
and below) and coccyx are absent
(sacral agenesis), although rarely the
condition extends to the lumbar spine
as well (lumbosacral agenesis).
Additionally, the corresponding
segments of the spinal cord are
absent, producing a characteristic
blunted CM on MRI scans.31 The filum
terminale is also invariably absent
in complete sacral agenesis, although
it may be present (and tether the
spinal cord) in sacral dysgenesis.
Maternal gestational diabetes is
a well-described risk factor for sacral
agenesis. Sacral agenesis may occur
in isolation or in association with
other caudal malformations, such as
anorectal malformations, cloacal or
bladder exstrophy, VACTERL, OEIS,
and other disorders of the caudal cell
mass.31 Bony sacral dysgenesis also
can occur in isolation or as
a component of the Currarino triad,
discussed previously, as a “scimitar
sacrum.”
Children with sacral agenesis have
characteristically flattened buttocks
with a shallow gluteal cleft,
a palpably absent coccyx, and distal
leg wasting described as an “inverted
champagne bottle” appearance
(Fig 11). Distal leg and foot weakness
are common, although sensation is
curiously spared. Bowel and bladder
dysfunction are universal. Although
most children with sacral agenesis
have fixed and static neurologic
deficits, a minority can manifest
progressive neurologic deterioration
as a result of either to dural or
bony spinal stenosis or, more rarely,
spinal cord tethering from an
associated thickened filum terminale
or another congenital spinal cord
malformation.32
OVERVIEW OF CRANIAL DYSRAPHIC
MALFORMATIONS
Anencephaly
Anencephaly is the cranial analog of
MMC resulting from failure of
anterior neural tube closure. The
malformation is obvious at birth;
open, exposed, and undifferentiated
neural tissue is present above the
orbital rims and nuchal line.
Anencephaly is virtually always fatal
e1111
and nasal cartilage.33 An associated
dermoid or epidermoid cyst or
a small heterotopic mass of astrocytes
and even neurons (called a nasal
glioma) may be present within the
tract. Although 70% to 90% of these
tracts end extracranially, 10% to 30%
extend to a variable extent
intracranially through the skull base
at the foramen cecum (Fig 12B).33,34
Computed tomography (CT) and MRI
provide complementary information
in the detection of frontonasal DSTs.
CT may reveal bony defects within
the foramen cecum or intracranial
calcifications, whereas MRI may
detect the soft tissue components of
the tract and/or intracranial dermoid
or epidermoid cysts.35 Unfortunately,
intracranial tracts may not always be
visible. Treating frontonasal DSTs
regardless of the imaging findings
eliminates the tract and prevents
future complications, even though
most will involve only a local nasal
excision.
FIGURE 10
Lumbosacral DSTs. A, DST superiorly (arrow) with deviated gluteal cleft inferiorly. B, DST with
surrounding infantile hemangioma. C, DST with skin appendage and hair in ostium. D, Subcutaneous
dermoid.
during infancy; neurologic outcome in
the few identified survivors is poor.
No treatment is available.
Cranial DSTs
Cranial DSTs are less common than
spinal DSTs. Like spinal DSTs, cranial
DSTs can produce symptoms by (1)
serving as a portal of entry for
bacteria and producing meningitis,
subdural empyema, or brain abscess;
(2) causing aseptic meningitis
through the desquamation of
epithelial debris from the tract and/
or associated dermoid or epidermoid
cysts; and (3) causing intracranial
hypertension and/or focal brain
compression through the progressive
enlargement of an intracranial
e1112
dermoid or epidermoid cyst. Cranial
DSTs are recognized as midline pits
or dimples located between the
glabella and nasal tip33 (Fig 12A) or
in the parieto-occipital region
(Fig 13A) but are not found between
these areas. Although subcutaneous
dermoid and epidermoid cysts may
arise at the anterior fontanelle, they
do not extend intracranially.
Frontonasal DSTs are innocuous
appearing and could easily be
overlooked or misdiagnosed as
pimples or comedones. Sebaceous or
creamy fluid can sometimes be
expressed from the ostium; clear CSF
may drain on rare occasions. A
subcutaneous tract extends to the
skull base between the nasal bone
Parieto-occipital DSTs more
frequently have intracranial extension
through a midline occipital skull
defect, penetrate the dura, and end
intracranially in relation to either the
occipital lobes or posterior fossa;
associated dermoid cysts may be
present (Fig 13B). Although MRI is
most useful to identify intracranial
extension, CT again may play
a supplementary role in identifying
FIGURE 11
Inverted champagne bottle appearance of legs
with sacral agenesis.
FROM THE AMERICAN ACADEMY OF PEDIATRICS
apparent externally as fully skincovered sacs containing variable
amounts of CSF and/or brain. Frontal
encephaloceles may have associated
hypertelorism. Tissue may extend
into the orbits or the frontal, ethmoid,
and sphenoid sinuses, where they
may cause proptosis or present as
intranasal or pharyngeal masses
(neuroimaging should, therefore, be
considered before surgical biopsy of
an intranasal mass). Encephaloceles
may rarely extend through defects in
the sphenoid or petrous bones into
the pterygopalatine or infratemporal
fossae and may be completely
invisible externally.
FIGURE 12
Frontonasal DST. A, DST arising from the glabella. B, Sagittal T2-weighted MRI showing dermoid cyst
(arrow) with tract extending through the anterior skull base at the level of the foramen cecum
(arrowhead).
small bony ostia through which the
tract might extend.
Encephaloceles
Encephaloceles represent focal
herniation of meninges, with or
without brain tissue, through
a focal defect in the skull and are
thought by many to arise after
neurulation from a defect in the
calvarial mesenchyme rather than as
a neural tube defect. They may be
isolated malformations or associated
with a wide variety of other genetic
syndromes and malformation
sequences.36 Encephaloceles may
involve the calvarium or skull base.
Calvarial encephaloceles can arise
anywhere along the midline skull
from the orbits to the craniocervical
junction. Occipital encephaloceles
are most common in European and
North American populations, whereas
frontal encephaloceles are most
common among Asian populations.
Calvarial encephaloceles are readily
FIGURE 13
Occipital DST. A, Midline tract. B, Sagittal T1-weighted MRI showing DST (arrow) with large posterior
fossa dermoid tumor (asterisk).
PEDIATRICS Volume 136, number 4, October 2015
Neuroimaging defines both the extent
and type of neural tissue within the
sac. MRI provides superior
visualization and is the preferred
imaging modality. The outcome for
encephaloceles is variable and
depends, in large measure, on the
amount and type of neural tissue
within the sac. For example, large
occipital encephaloceles containing
solely or largely CSF may have an
excellent prognosis, whereas those
having large amounts of occipital lobe
or brainstem generally have a poor
prognosis.
The atretic parieto-occipital
encephalocele deserves special
mention, because it can be confused
with cutis aplasia congenita (CAC)
(described later). Midline atretic
encephaloceles overly the parietal or
occipital bones as a small area of
dysplastic skin surrounded by whorls
of distinctly colored hair sometimes
referred to as a “horse collar”
(Fig 14A). Neuroimaging may
demonstrate an underlying small
bony defect and/or a bifid superior
sagittal sinus. In addition, MRI, and
particularly magnetic resonance
venography, may show a classic
venous drainage pattern in which the
straight sinus is atretic or absent
and the deep cerebral veins instead
drain through an embryonic primitive
prosencephalic (or falcine) vein
between the pineal region and
e1113
hair; it has no intracranial tract of
tissue and is associated with neither
any underlying brain malformation
nor intracranial venous anomalies. A
CAC can, nonetheless, be dangerous
for 2 reasons: first, it can serve as
a portal of entry for bacterial
meningitis or intracranial infection.
Second, if allowed to desiccate from
exposure to air, the dura lining the
superior sagittal sinus can crack and
bleed significantly. A midline CAC that
exposes the superior sagittal sinus
should be immediately covered with
a sterile, saline-soaked gauze or
petroleum gel until repaired by
a neurosurgeon and/or plastic
surgeon.
FIGURE 14
Atretic parietal encephaloceles. A, Scarified
midline lesion with whorl of surrounding hair
(or “horse collar”). B, Magnetic resonance
venogram showing persistent falcine vein
(arrowheads) and absence of straight sinus
(arrow).
superior sagittal sinus37 (Fig 14B). At
surgery, the atretic parieto-occipital
encephalocele contains an underlying
tissue tract having a surrounding
dural cuff. Despite its innocuous
appearance, the parietal
encephalocele may be associated
with other congenital brain
malformations and significant
cognitive deficits in some cases.38,39
Parietal encephaloceles must be
distinguished from CAC, a disorder of
full-thickness skin of uncertain
etiology that most commonly involves
the scalp (Fig 15); 20% to 30%
have skull aplasia as well.40 In the
midline, CAC may extend to involve
the dura.41 Both genetic transmission
(autosomal dominant and, less
commonly, autosomal recessive) and
association with chromosomal
abnormalities (trisomy 13, deletion of
the short arm of chromosome 4) have
been described.40 Unlike the skincovered atretic encephalocele,
CAC lacks skin and does not
characteristically have a dysplastic
skin collar or a whorl of surrounding
e1114
RELEVANCE OF CUTANEOUS MARKERS
Cutaneous markers may be the only
indication of an underlying spinal
cord malformation, particularly in
infants before progressive symptoms
or neurologic deficits develop. Faced
with a child having a cutaneous
marker, the pediatrician is faced
with a decision to (1) observe; (2)
obtain some sort of imaging study
and, if so, what type; and/or (3)
obtain a neurosurgical consultation.
Unfortunately, there are few
prospective studies that meaningfully
assess the frequency of underlying
spinal cord malformations for these
cutaneous markers, and the
predictive value of these markers is
implied largely from older studies on
the natural history or surgical
outcomes of occult dysraphism.
However, cutaneous anomalies may
generally be stratified into 3 risk
FIGURE 15
CAC.
categories based on the literature and
collective experience (Table 1).
High-Risk Cutaneous Anomalies
Children with 1 or more of the
cutaneous markers described in the
following paragraphs often have an
underlying congenital spinal cord
malformation. Almost 70% of
children with congenital spinal cord
malformations display at least 1 of
these high-risk cutaneous
markers,42,43 and it is common for 2
or more cutaneous markers to
coexist. On the other hand, these
high-risk cutaneous markers are
present in only 3% of normal
neonates.44
Hypertrichosis refers to a focal tuft of
hair of variable thickness located in
the posterior spinal midline (Fig 8C);
because it resembles a horse’s tail,
it has earned the mythological
name “fawn’s tail.”43 This can be
distinguished by its focality from the
more diffuse and/or “light hair” often
seen in infants (discussed in the
section Low-Risk Cutaneous
Anomalies, later in this article).
Hypertrichosis is often accompanied
by a capillary hemangioma and also
may be associated with dimples or
subcutaneous masses, such as lipoma,
bone malformations, or even
teratoma. Hypertrichosis may
accompany spinal malformations of
any type but is most commonly
associated with split cord
malformations, where it is associated
with two-thirds of type I and
one-third of type II SCMs.19,43
An infantile hemangioma (Fig 6C) is
a highly vascular, usually raised lesion
having well-defined borders. It is
readily distinguished from the flat
port wine, pink, or salmon-colored
capillary malformations discussed in
the next section, Intermediate-Risk
Cutaneous Anomalies. Infantile
hemangiomas develop in up to 5% of
infants and may be located anywhere
on the body. Infantile hemangiomas
that are midline and overlie the spine,
particularly in the lumbar region, are
FROM THE AMERICAN ACADEMY OF PEDIATRICS
TABLE 1 Risk Stratification for Various Cutaneous Markers
High Risk
Hypertrichosis
Infantile hemangioma
Atretic meningocele
DST
Subcutaneous lipoma
Intermediate Risk
Low Risk
Capillary malformations (also
referred to as NFS or salmon
patch when pink and poorly
defined, or PWS when darker red
and well defined)
Coccygeal dimple
Light hair
Isolated café au laít spots
Mongolian spots
Hypo- and hypermelanotic
macules or papules
Deviated or forked gluteal
cleft
Nonmidline lesions
Caudal appendage
Segmental hemangiomas in
association with LUMBAR
syndrome
LUMBAR, lower body hemangioma and other cutaneous defects, urogenital abnormalities, ulcerations, myelopathy, bony
defects, anorectal malformations, arterial anomalies, and renal anomalies.
sometimes associated with
underlying dysraphic
malformations.45 Although the
sensitivity and specificity of the
lumbosacral midline infantile
hemangioma as a marker for spinal
dysraphism are not entirely known,
the presence of this marker raises
suspicion for an underlying dysraphic
malformation.43,45,46 A subset of
infantile hemangiomas overlying the
lumbosacral spine that are segmental,
are large, and may have a reticular
pattern are associated with spinal and
genital urinary malformations in up
to 55% of cases as part of the
LUMBAR syndrome (lower body
hemangioma and other cutaneous
defects, urogenital abnormalities,
ulcerations, myelopathy, bony defects,
anorectal malformations, arterial
anomalies, and renal anomalies).47
Caudal appendages represent focal
skin-covered appendages described
as true tails and pseudotails48
(Fig 16). A true tail is a vestige of the
embryonic tail that ordinarily
regresses in humans; it contains
vertebrae and variably muscle, fat,
and mesenchymal tissues. The tail
may be covered with hair and is often
capable of spontaneous or reflex
movements.48 In contrast,
a pseudotail is a skin-covered
outgrowth containing fat, cartilage, or
other organ-specific tissues, such as
embryonic kidney. It is thought to be
an abnormal outgrowth rather than
a vestigial embryonic structure. This
differentiation is moot from
PEDIATRICS Volume 136, number 4, October 2015
a practical standpoint, because both
true tails and pseudotails may be
associated with dysraphic
malformations (although some
studies suggest a more frequent
association with pseudotails).
Atretic meningocele (Fig 5) is another
high-risk cutaneous marker that was
discussed previously.
Intermediate-Risk Cutaneous
Anomalies
Capillary vascular malformations may
be classified as intermediate-risk
anomalies and are of several types; all
are flat malformations in contrast to
most infantile hemangiomas, and
microscopically they look similar
despite the differences in their
clinical appearance. Port wine stains
(PWSs) are flat, darker, red-purple
lesions, having well-defined borders,
which tend to get darker with time
(Fig 6D). Nevus flammeus simplex
(NFS),49 also referred to as “salmon
patch,” is a flat, pink or red capillary
malformation having relatively illdefined borders. These lesions are
present in up to 43% of the general
population49,50 and occur in a variety
of locations. Nonmidline lesions as
well as midline lesions that occur on
the glabella, the lip (“angel kiss”) or
the nape of the neck (“stork bite”) are
not associated with underlying
dysraphic malformations. On the
other hand, midline or juxta-midline
lumbosacral lesions are sometimes
seen in association with dysraphic
malformations including DSTs, split
cord malformations,
lipomyelomeningoceles (Fig 6A, 6B),
and other malformations.
Whether isolated midline lumbosacral
capillary malformations, particularly
NFS, which are present in as many as
0.77% of the healthy population,49
are more frequently associated with
underlying dysraphic malformations
is controversial. In one study of 120
children with spinal dysraphic
malformations, a capillary
malformation was the only cutaneous
manifestation of the underlying spinal
cord abnormality in 17%.51 On the
other hand, 2 studies involving
a combined 40 infants with capillary
vascular malformations but no other
cutaneous markers of dysraphism
identified only 1 (2.5%) with an
underlying dysraphic malformation
on spinal ultrasonography.49 Isolated
NFS is much less frequently
associated with dysraphic
malformations than are PWSs.
However, NFS may not always be easy
to distinguish from PWSs clinically,
leading to confusion and imprecise
terminology.
Low-Risk Cutaneous Anomalies
A number of low-risk cutaneous
markers do not require routine
further neuroimaging or follow-up.
FIGURE 16
Pseudotail.
e1115
These include non-midline cutaneous
lesions, benign coccygeal dimples
(discussed previously); diffuse and
evenly distributed lumbosacral hair,
isolated café au laít and Mongolian
spots, hypo- and hypermelanotic
macules or papules, and isolated
gluteal cleft deviation or forking.
There have been no large prospective
studies of isolated gluteal cleft
abnormalities. One study
demonstrated that isolated gluteal
cleft deviation or forking carries
a low association with dysraphic
malformations,52 although a higher
incidence is found when gluteal cleft
abnormalities are combined with
other cutaneous markers of
dysraphism. Absent other cutaneous
markers of dysraphism, isolated
gluteal cleft abnormalities need not be
further evaluated, but those that occur
with other cutaneous markers of
dysraphism and those having
neurologic, urologic, or orthopedic
manifestations of tethering suggest an
underlying dysraphic malformation.
ASSOCIATED CONDITIONS
Scoliosis, Orthopedic Deformities,
and Dysraphism
As many as 75% or more of patients
with spinal dysraphism will present
with lower extremity neurologic and
orthopedic abnormalities from
tethering.53 The exact presentation
depends on both the age of the
patient and the degree and type of
lower extremity dysfunction.53–55
Progression is an important feature
that suggests an underlying dysraphic
malformation with spinal cord
tethering. Unfortunately, although
tethered cord release is effective in
arresting or improving neurologic
symptoms, sensorimotor dysfunction,
or urologic deterioration, longstanding or severe orthopedic
deformities are unlikely to improve,
and subsequent orthopedic
intervention may be required.
Scoliosis is another common
manifestation of tethering.56 Like
e1116
other orthopedic manifestations,
scoliosis associated with tethering is
often progressive and may be
a levoscoliosis rather than the more
common dextroscoliosis seen in
idiopathic scoliosis in some,57,58 but
not all59 studies. Scoliosis in the
setting of dysraphism is multifactorial
and may involve muscular imbalance,
vertebral abnormalities, and other
factors; for example, 18% to 58% of
dysraphic malformations are
associated vertebral malformations,
such as hemivertebrae, butterfly
vertebrae, or segmentation
abnormalities,60,61 and it may be
difficult in this setting to determine
what role, if any, tethering plays in the
development of scoliosis. However,
scoliosis that is atypical, rapidly
progressive (in excess of the rate of
annual progression predicted by the
associated vertebral malformations),
or associated with neurologic
abnormalities should prompt further
workup and referral. Fortunately,
early untethering can often halt
progression and may even reverse
deformities and restore function,
particularly for those with mature
spines and/or scoliosis curves of
,40 degrees.55,56,60,62–65
Anorectal Malformations and
Dysraphism
The intimate temporospatial
relationships between caudal spinal
cord and anorectal and urogenital
development during early
embryogenesis may result in
associated malformations involving
all 3 organ systems.66 Between 10%
and 52% of children with anorectal
malformations have associated
dysraphic malformations.67–73
Studies have not established
a correlation with the level of the
anorectal malformation (low,
intermediate, or high),74,75 although
there is a higher association with
complex (43%) compared with
simple anorectal malformations
(11%). Both dysraphic and anorectal
malformations may occur in
conjunction with recognized
malformation sequences such as
Currarino triad, VACTERL, and OEIS.
MRI will identify children having
underlying dysraphic malformations.
Urologic Dysfunction and
Dysraphism
Urologic dysfunction is an important
presenting feature of spinal cord
tethering.76,77 Urologic function may
be assessed by history (incontinence,
frequency, repeated urinary tract
infections), imaging (renal
ultrasonography showing
hydroureter/hydronephrosis,
sometimes with associated small,
enlarged, or trabeculated bladder) or
by formal urodynamic testing in
which the bladder’s response to
retrograde filling is assessed.78,79
Urologic manifestations of tethered
cord vary according to the age at
presentation and the severity of the
response to the tethering
process.80,81 More than 90% of
children younger than 3 years at
diagnosis have no urologic symptoms,
and results of formal urodynamic
testing at this age are rarely
abnormal.78,82 Urinary tract infection
is the predominant sign in an affected
infant, but urinary retention is
occasionally seen.77 Once a child is
toilet trained, the onset of secondary
urinary incontinence, especially in
conjunction with fecal incontinence
and/or constipation, is the most
common presentation of a tethering
lesion, although urinary tract
infection is still common in this age
group as well.77,81,83 As the child
matures, urgency, urge incontinence,
sudden or stress incontinence, newonset enuresis, urinary frequency,
and nocturia, often together with
fecal soiling, are the most common
modes of presentation. Renal
ultrasonography may reveal
hydronephrosis and/or increased
bladder wall thickness. In addition,
a plain abdominal radiograph may
reveal bony abnormalities of the
spine or disturbances in the bowel
gas pattern. Urodynamic studies at
this time demonstrate either an
FROM THE AMERICAN ACADEMY OF PEDIATRICS
enlarged bladder capacity with
detrusor underactivity (no or poor
bladder contractions) and denervation
in the external urethral sphincter
muscle (signs of lower motor neuron
dysfunction) or a small, thick-walled
bladder with detrusor overactivity and
incoordination between the bladder
and external sphincter muscle with
voiding, called detrusor sphincter
dyssynergia (signs of upper motor
neuron dysfunction).79,82
Urologic and/or gastrointestinal
symptoms in a child with a cutaneous
midline skin lesion or with leg pain,
sensorimotor loss, orthopedic
deformity, or gait disturbance
suggests an underlying spinal cord
tethering malformation. A trained
pediatric urologist will be able to
identify and characterize voiding
dysfunction in this population.84,85
A urodynamic evaluation before
surgical correction provides
information about the extent of
sacral spinal cord involvement and
serves as a basis for comparison
postoperatively.78,86
SUMMARY AND CONCLUSIONS
A wide variety of congenital brain and
spinal cord malformations may
ultimately lead to neurologic
deterioration. Cutaneous
manifestations of dysraphic
malformations are common, and their
presence may alert the pediatric care
provider to the presence of an
underlying spinal cord abnormality,
especially in association with
a pattern of other signs and
symptoms that suggest spinal cord
tethering. Recognizing and
prophylactically treating these
malformations often provides the
best opportunity to avoid
subsequent deterioration.
Bermans Iskandar, MD, FAANS, FAAP
Marc A. Levitt, MD, FAAP
David G. McLone, MD, FAANS
Francesco T. Mangano, DO, FACS, FACO
Jerry Oakes, MD, FAANS, FAAP
John Sarwark, MD, FAAP
Elizabeth Tyler-Kabara, MD, FAANS, FAAP
Shokei Yamada, MD, FAANS, FAAP
SECTION ON NEUROLOGIC SURGERY
EXECUTIVE COMMITTEE, 2015-2016
John Ragheb, MD, FAAP
Phillip R. Aldana, MD, FAAP
Ann-Christine Duhaime, MD, FAAP
Andrew H. Jea, MD, FAAP
Douglas Brockmeyer, MD, FAAP
Ann Ritter, MD, FAAP
FORMER SECTION ON NEUROLOGICAL
SURGERY EXECUTIVE COMMITTEE
MEMBERS
Mark S. Dias, MD, FAANS, FAAP, Immediate
Past Chair
David P. Gruber, MD, FAAP
STAFF
Vivian Thorne
Lynn Colegrove, MBA
ABBREVIATIONS
CAC: cutis aplasia congenita
CM: conus medullaris
CNS: central nervous system
CSF: cerebrospinal fluid
CT: computed tomography
DST: dermal sinus tract
MMC: myelomeningocele
MRI: magnetic resonance imaging
NFS: nevus flammeus simplex
OEIS complex: omphalocele,
exstrophy,
imperforate anus,
spinal cord
tethering
PWS: port wine stain
SCM: split cord malformation
VACTERL: vertebral defects, anal
atresia, cardiac defects,
tracheo-esophageal
fistula, renal anomalies,
and limb abnormalities
LEAD AUTHORS
Mark S. Dias, MD, FAANS, FAAP
Michael Partington, MD, FAANS, FAAP
CONTRIBUTING AUTHORS
Stuart B. Bauer, MD, FAAP
Robin Bowman, MD, FAANS, FAAP
PEDIATRICS Volume 136, number 4, October 2015
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