CHAPTER
109
Congenital Intraspinal Anomalies:
Spinal DysraphismEmbryology,
Pathology, and Treatment
SPINAL DYSRAPHISMEMBRYOLOGY,
PATHOLOGY, AND TREATMENT
The term spinal dysraphism can generate considerable confu-
sion due to the broad range of malformations it represents that
originate from defective closure of the neural tube (hence, the
term neural tube defects) early in fetal life and anomalous
development of the caudal cell mass. Spinal dysraphism
describes the overall group of defects derived from the malde-
velopment of the ectodermal, mesodermal, and neuroectoder-
mal tissues. A summary of definitions that encompasses this
group of disorders is provided in Table 109.1.
A simple classification schema is based on whether neural
tissue is exposed (Table 109.2). The open lesions have an
absence of skin covering the defect, such as the classic myelom-
eningocele. These may have some degree of myeloschisis, pos-
terior spinal bifida, and protrusion and exposure of all or some
of the neural elements. In the closed group, skin completely
covers the lesions. These may also have some degree of myelo-
schisis and spina bifida, but there are no exposed neural
elements.
Early 19th century surgeons made crude attempts at correct-
ing the lesions without much success due to high rates of mor-
tality from perioperative infections. Further refinement in
techniques lead to much lower operative morbidity; however,
the associated hydrocephalus continued to devastate many
patients until shunting was introduced in the 1950s. This sig-
nificantly improved survival but also revealed substantial physi-
cal and mental disabilities associated with this affliction later in
life.
Efforts were made to select the best candidates for treat-
ment.21 However, in one of the largest series of unselected
patients in which aggressive treatment was compared with a
group of highly selected patients who had received treatment,
the group of unselected patients receiving treatment had bet-
ter function, comparing factors that included social continence,
renal function, ambulation, mortality, and intelligence. Hence,
all but the most moribund patients who undergo aggressive
treatment can lead productive lives.
LWBK836_Ch109_p1149-1178.indd 1149
Jeffrey Leonard
M. Mohsin Shah
Bruce Kaufman
EPIDEMIOLOGY
The incidence and epidemiology of spina bifida varies across
time, geography, race, and ethnicity (Table 109.3). A higher
frequency is reported in the northeast United States and in
the northwest of the British Isles. Population studies have
shown higher incidence in Celtic immigrants in Boston com-
pared with the surrounding population. The birth prevalence
is significantly higher in infants of Hispanic mothers com-
pared with those of African-American and Caucasian moth-
ers.24 This variation in birth prevalence is also dependent on
the conception rate, availability of prenatal care and diagno-
sis, and the rates of elective termination. Because these fac-
tors have wide regional variability, surveillance becomes
challenging.
The importance of folic acid in open neural tube defects
(ONTDs) has been demonstrated in many clinical trials. These
studies found that women taking at least 0.4 mg of folic acid
daily for at least 3 months prior to conception decreased the
chance of ONTD in their fetus by 70% to 80%.7 As a result,
women of conceptional age are all recommended to take 0.4
mg daily and 4 mg when they are planning a pregnancy. The
Centers for Disease Control and Prevention (CDC) reported a
decline in the incidence of spina bifida from 5.9 to 3.2 cases
per 10,000 births during the period 1983 through 1990.7 Since
the implementation of mandated folic acid supplementation to
cereal grain products in 1998, the CDC has reported a further
decline in the incidence of ONTD of approximately 26%, with
the current conception rate estimated between 0.5 and 1 per
1000.8
Extensive studies searching for etiological factors causing
spina bifida have failed to yield conclusive links. A small sub-
group of patients has a recognized chromosomal, terato-
genic, or Mendelian malformation syndrome. As for the
nonsyndromic forms of spina bifida, there have been only a
few established variables or risk factors (Table 109.4). A fam-
ily history of ONTDs is one of the strongest risk factors, with
the risk in the siblings of affected individuals raging from
3% to 8% and is consistently higher than that of the general
1149
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 1150 Section IX Dysplastic and Congenital Deformities

TABLE 109.1 Spina Bifida Terms Variation in Spina Bifida

TABLE 109.3
Prevalence7
Myeloschisis Refers to the cleavage of the spinal
cord. May be partial, ventral, or Prevalence
dorsal
Time Period (per 1000)
Rachischisis Complete failure of neural tube
closure. Entire brain and spinal Variation Across Countries
cord are exposed to the external England and Wales 1996 036
environment. Not compatible with Finland 1996 046
survival Norway 1996 057
Spina bifida cystica Refers to meningoceles and Northern Netherlands 1996 063
myelomeningoceles
Spina bifida aperta Subgroup of defects that are open or Regional Variation
exposed Northern China 19921993 292
Spina bifida occulta Failure of posterior arch fusion at Southern China 19921993 026
one or more levels, usually in the Temporal Variation
lower lumbosacral region. Eastern Ireland 1980 27
Eastern Ireland 1994 06
Ethnic and Racial Variation (California)
Non-Hispanic White 19901994 047
19
population. These occurrences do not fit a Mendelian pat- Hispanic 19901994 042
African-American 19901994 033
tern of transmission. Other genetic mechanisms of transmis-
Asian 19901994 020
sion, such as an X-linked recessive gene, a dominant gene
with variable penetrance, or polygenic transmission, have Variation as a Result of Prenatal Diagnosis and Elective
Termination (England and Wales)
been suggested to account for this tendency to recur within
Live and stillbirths only 1996 009
families. Genetic variants of several genes implicated in
Live and stillbirths, plus 1996 031
folatehomocysteine metabolism and have been assessed as terminations
risk factors for spina bifida. However, the precise role of spe-
cific folate pathway gene variants in causing spina bifida has
not yet been established. Similarly, the risk of this disorder
might also be determined by genetic variation in other meta- Genetic factors do seem to have a role in some cases of spina
bolic pathways. Genes in these pathways, like those involved bifida occulta.30 The risk of one child having spinal dysraphism
in folatehomocysteine metabolism and transport, could is estimated to be 0.1% to 0.2%. With one affected sibling, the
affect the risk of spina bifida through either the maternal or risk of a second affected child increases to 2% to 5%, and the
embryonic genotypes. risk of a third affected child increases again to 10% to 15%.
Spina bifida occulta is much more prevalent than the
open forms of dysraphism. Estimates of its frequency have
come from reviews of spinal radiographs taken for reasons Established and Suspected
unrelated to the spine or nervous system. Between 17% and TABLE 109.4 Risk Factors for Spina
30% of the normal population has been found with a spi- Bifida7
nal defect.12 It is seen more commonly in males and most
frequently at the L5 or S1 level. Its diagnosis is often picked Relative Risk
up by pediatricians or primary care physicians on history of
subtle but progressive neurologic symptoms and clinical Established Risk Factors
History of previous affected pregnancy with same 30
findings of cutaneous stigmata such as hypertrichosis, dim-
partner
ples, sinus tracts, or capillary hemangiomas in the same
Inadequate maternal intake of folic acid 28
area. Pregestational maternal diabetes 210
Valproic acid and carbamazepine 1020
Suspected Risk Factors
Maternal vitamin B12 status 3
Classification of Spina Bifida Maternal obesity 1.53.5
TABLE 109.2
Lesions Maternal hyperthermia 2
Maternal diarrhea 34
Absent skin covering Intact skin covering Gestational diabetes NE
(Occult spinal dysraphism) Fumonisins NE
Myelomeningocele Lipomas of the spinal cord Paternal exposure to Agent Orange NE
Lipomyelomeningocele Chlorination disinfection by-products in NE
Intradural lipoma drinking water
Myelocele Diastematomyelia Electromagnetic fields NE
Dermal sinus Hazardous waste sites NE
Anterior meningocele Pesticides NE
Tight filum terminale
Myelocystocele NE, not established.

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment 1151

Embryonic
Amnion ectoderm
Primitive groove
Embryonic disc

Connecting stalk Intraembryonic

mesoderm

Trilaminar
Embryonic embryonic disc
Yolk sac endoderm
A B

Figure 109.1. (A) The bilaminar embryonic disc surrounded by the amnion and yolk sac. (B) During
gastrulation, a trilaminar disc forms from the bilaminar disc creating the model for the future ectoderm,
mesoderm, and endoderm. (Reprinted from Moore K, Persaud TVN. The developing human: clinically
oriented embryology, 6th ed. 1998.)

EMBRYOLOGY Starting at Hensons node, the primitive pit deepens and

The lesions of spina bifida are all aberrations of the normal
development of the spine and spinal cord. During gastrulation,
a bilaminar disc is formed, which further transforms to a tril-
aminar embryo by days 16 to 17 (Fig. 109.1). By the third week
of gestation, this gives rise to the primitive streak, well-defined
germ layers (endoderm, mesoderm, and ectoderm), and the
notochord. Epiblastic cells migrate from the deep surface of
the primitive streak and form the embryonic endoderm that
ultimately develops into the gut structures (Fig. 109.2). Cells
further continue to migrate from the primitive streak, creating
the mesoderm that gives rise to the musculature and skeleton.
Cells remaining on the epiblastic side of the embryonic disc
form the ectoderm from which the skin and nervous system
derives. As the mesoderm proliferates, cells condense in the
midline, extending from the primitive node (Hensons node)
to the prochordal plate (Fig. 109.3). This thickening of cells is
called the notochordal process, which will represent the future ver-
tebrae and bony skeleton.
extends through the notochordal process, forming a hollow
tube (Fig. 109.4). Along its ventral surface, the notochordal
process fuses with the endoderm and multiple areas of endo-
dermal cell breakdown occur, allowing a temporary communi-
cation of the yolk sac and amnion through what is called the
neurenteric canal. This is the process of intercalation of the
notochordal plate (Fig. 109.5). The notochordal plate then
reforms into a solid cylinder, the true notochord, and allows
the endoderm to reestablish its continuity. This is the excalation
of the notochord.
With the development of the notochord, the process of neu-
rulation, or neural tube formation, begins (days 18 through
27). The underlying notochord causes the ectoderm rostral to
Hensons node to differentiate into the neural plate. The cells
of the neural plate proliferate and heap up on each side of a
developing longitudinal groove, that is, the neural folds on
each side of the neural groove. Laterally, the neural plate is in
continuity with the ectoderm from which it is derived
(Fig. 109.6).

Embryonic
ectoderm Prechordal plate

Cut edge of amnion

Yolk sac covered with

extraembryonic mesoderm
Primitive groove
Primitive node Primitive node in primitive streak
Cut edge
Primitive pit Embryonic of amnion
ectoderm
Level of section B

Primitive groove in
primitive streak

A Connecting stalk B Migrating cells Embryonic endoderm Mesoblast

Figure 109.2. Cells migrate in from the primitive streak. The deepest cells form the endoderm, followed by the meso-
derm, while the remaining cells form the ectoderm. (Reprinted from Moore K, Persaud TVN. The developing human
clinically oriented embryology, 6th ed. 1998.)

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 1152 Section IX Dysplastic and Congenital Deformities

and ectoderm, ultimately forming the meninges, neural arches,

Figure 109.3. Formation of the trilaminar embryo. The stage 7
embryo viewed from the ectodermal side. The mesoderma forms
from cells that condense in the midline and invaginate between the
ectodermal and endodermal layers (curved arrows). A thickening of
cells in the midline, rostral to the primitive node, forms the noto-
chordal process.
Concurrently, the notochord has induced the paraxial meso-
derm to thicken and form longitudinal columns. These cell
masses condense and segregate into paired segments called
somites. When the somites are finally formed, there are approx-
imately 42 to 44 pairs, consisting of 4 occipital, 8 cervical, 12
thoracic, 5 lumbar, 5 sacral, and 8 to 10 coccygeal segments.
Ultimately, the first occipital and the caudal-most five to seven
coccygeal segments regress.
As the neural folds grow, they meet and fuse in the mid-
line, forming the neural tube (days 22 to 23) (Fig. 109.7).
Closure occurs at each level at approximately the same time as
each somite pair is formed. The first portion of the neural
tube to form occurs at the third to fourth somite, the future
site of the craniovertebral junction. Closure then progresses
caudally and rostrally as additional somites form. The most
rostral portion of the tube closes between days 24 and 25, with
final closure at the posterior neuropore (caudal end) at the
level of the future L1 or L2 vertebral body (days 26 to 27).
The lower portion of the spinal cord forms by a separate pro-
cess (canalization).
As the neural tube folds and fuses into a tube, the superficial
ectoderm disconnects from the neural tube (disjunction), then
fuses in the midline, dorsal to the tube. This reconstitutes a
continuous ectoderm (the future skin). The mesenchyme
migrates from the sides into a position between the neural tube
and paraspinal muscles.
In the process of canalization, the distal spinal cord forms
after neurulation is complete. The caudal cell mass forms from
the aggregation of undifferentiated cells, the remnants of the
notochord, and the caudal end of the neural tube. This is adja-
cent to the developing hindgut and mesonephros. Vacuoles
form within the caudal cell mass, begin to coalesce, and ulti-
mately connect with the central canal of the formed spinal cord
more rostrally.
Along this distal canal, the cells differentiate toward
glia. The most cephalic portion becomes the conus medul-
laris. The remainder involutes (retrogressive differentiation) to
form the filum terminale. At the time the conus medullaris is
formed, it is located at approximately the second or third coc-
cygeal level. There is no further involution of the spinal cord,
but the spinal column grows at a relatively fast rate than does
the spinal cord, resulting in the apparent ascension of the
conus. The ascension occurs rapidly between 8 and 25 weeks
of gestation, with the conus generally opposite L2-3 at birth,
reaching the normal adult level of L1-2 in the months after
birth.
OPEN DYSRAPHIC STATES:
MYELOMENINGOCELE
EMBRYOLOGY
Myelomeningoceles, the most common form of neurulation
defect, may be the result of a primary failure of neural tube
closure, with the neural folds failing to roll up and fuse, or they
may be due to a secondary reopening of the closed neural tube
from rupture of an expanding central canal. Although there is
experimental evidence to support both theories, the best evi-
dence supports the failure of the tube to close primarily, with
the neural plate remaining flat until birth.28 The development
of the associated ArnoldChiari malformation has been sug-
gested to occur later in gestation.
When the tube fails to close, the superficial ectoderm
remains attached and lateral to the flat neuroectoderm. The
mesenchyme and somites cannot migrate medially thus bony,
cartilaginous, and muscular elements are formed laterally. The
laminae appear bifid, and the structures formed are essen-
tially everted. At the level of the defect, a number of continuous

A B

Figure 109.4. Formation of the notochordal process. (A) Midsagittal section of the notochordal
canal within the notochordal process. The canal extends from the primitive pit throughout the length
of the notochordal process. (B) A representative axial section taken at the level A in part A. The rela-
tionship of the notochordal canal within the mesoderm and between the layers is seen. The ectoderm
adjacent to the notochordal process is the neural plate, precursor, or the neuroectoderm.

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment 1153

A B

Figure 109.5. Intercalation of the notochordal plate. (A) Midsagittal section with areas of endoder-
mal breakdown. Fusion of the notochordal tube with the endoderm occurs. A temporary communica-
tion, the neurenteric canal, is established between the amnion and yolk sac (arrow). (B) Axial section at
level B in part A. The tube has fused with the endoderm and is evaginating the process of intercalation,
forming the notochordal plate.

vertebrae are affected. The pedicles and laminae have devel-
oped laterally and appear rotated outward. The transverse pro-
cesses are directed anteriorly. This, however, effectively
decreases the anteroposterior (AP) dimension of the canal. If
the laminae have rotated far enough, the AP dimension of the
canal can be reduced to zero. The transverse diameter of the
canal is usually the greatest and the AP diameter the least at
the level of the greatest displacement of the lamina. In some
cases of extensive pedicle rotation, the paraspinal muscles
develop anterior to the midcoronal plane of the spine. In this
position, they become flexors of the spine and can cause or
aggravate a kyphosis, particularly when occurring at the upper
lumbar or lower thoracic level.
Several theories have been raised to explain the neurologic
injury associated with an open spinal cord defect based on ani-
mal studies.14 They purport a two-hit process in which the first
hit is maldevelopment of the neural tube and the associated
structural abnormalities. The second hit may comprise expo-
sure of normal neural tissue to amniotic fluid and resultant
injury based on several animal models. In patients, the func-
tional level of neurologic injury generally corresponds to the
anatomical level of the bony spinal defect determined radio-
logically. However, a retrospective review published in 2002
noted that functional level was actually higher than the ana-
tomic level in 48% of individuals with spina bifida, and lower
than the anatomic level in 14% of individuals.39

ANTENATAL EVALUATION AND TREATMENT

FETAL SURGERY FOR MYELOMENINGOCELE
The prenatal diagnosis of myelomeningocele has increased
markedly with the more routine use of antenatal screening
tests, such as alpha-fetoprotein determinations, amniocentesis,
and ultrasound examinations. This enables adequate prepara-
tion for definitive care of the newborn while allowing proper
education of the expectant parent.
Early antenatal diagnosis has recently prompted a few groups
to offer a novel but highly controversial treatment of fetal
surgical closure of myelomeningoceles based on encouraging
A

Figure 109.6. Formation of the neural tube. (A) Overview of the

embryo from the ectodermal surface: As the somites form on each
side of the neural groove, the neural tube is induced to form, extend-
ing in both the rostral and caudal directions simultaneously. (B) Axial
section representative of level E in part A. The neural folds move
medially, with eventual fusion of the neural crest cell mass dorsal to
the neural tube, and reformation of the ectodermal layer most dor-
sally. (Redrawn from Moore KL. The developing human: clinically ori-
ent embryology, 2nd ed. Philadelphia: WB Saunders, 1970:52.)
Figure 109.7. The neural tube. Axial section through the devel-
oping neural tube corresponding to level F in Figure 109.6. The neu-
ral tube has formed at this level. The ectoderm has separated from
the neural crest cells and is about to fuse in the midline (arrow),
reconstituting an intact layer. (Redrawn from Moore KL. The devel-
oping human: clinically oriented embryology. 2nd ed. Philadelphia:
WB Saunders, 1970:328.)

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 1154 Section IX Dysplastic and Congenital Deformities
animal studies with the aim of improving neurologic outcomes
in these patients.3 In 1998, in utero repair of spina bifida by
hysterotomy was reported. Results from the Management of
Myelomeningocele Study (MOMS) were recently published in
the New England Journal of Medicine, and prenatal closure was
shown to improve motor score at 30 months and was shown to
reduce the need for shunting.4 This may portend a significant
benefit to the health of patients with myelomeningocele con-
sidering the substantial lifetime morbidity and mortality related
to the treatment of hydrocephalus and shunting, with mortality
reaching 1% per year. There also appears to be a significant
decrease in the incidence or severity of Chiari II malformations
in the patients treated with fetal surgery but whose long-term
significance is not yet clear.
The risks of fetal surgical repair include an overall mortal-
ity from the surgery itself of at least 4%. In addition, there is
an increase in the incidence of oligohydramnios (48% vs.
4%), preterm uterine contractions (50% vs. 9%), earlier esti-
mated gestational age (33.2 vs. 37 weeks), and a lower birth
weight.46 Maternal complications have been reported includ-
ing uterine rupture, placental abruption, and maternal bowel
obstruction secondary to adhesions that can occur following
hysterotomy. This may also commit the mother to a future
cesarean section and hence should be considered prior to
hysterotomy.
POSTNATAL PRESENTATION AND EVALUATION
Myelomeningoceles not diagnosed prenatally are apparent at
birth (Fig. 109.8). The goals of evaluation and treatment are
to assess the general health of the baby, to identify associated
problemsparticularly those that potentially preclude early
operative closure of the defect, to protect and preserve neu-
ral function, and to close the defect and prevent infection.
Routine, although somewhat more extensive, neonatal care
is begun immediately. The defect is protected from trauma
and drying by the application of a sterile, damp, nonstick
dressing.
Evaluation of the cardiac, gastrointestinal, and genitouri-
nary systems is undertaken. Portable ultrasound examinations
of the head and urinary system are done and plain radio-
graphs of the entire spine are obtained in the neonatal inten-
sive care unit. Information on the state of the associated
hydrocephalus, the presence of hydronephrosis, and other
occult dysraphisms are then immediately available to aid in
surgical planning.
A B
LWBK836_Ch109_p1149-1178.indd 1154
A neurologic examination is done to determine the func-
tional level of the lesion. The varying degrees of abnormal
reflexes, or even the occasional presence of spinal shock,
should not be confused with presence or absence of intact func-
tion. Asymmetric neurologic findings may be present and can
represent the presence of additional and not immediately obvi-
ous malformations such as diastematomyelia.
The lower level of sensory denervation is found by examin-
ing the neonate when quiet or sleeping. Sharp stimulus is used,
starting distally and working proximally, with the operator
watching for a facial grimace or cry. Motor function is deter-
mined by applying painful stimulus to the upper extremities
(or unaffected portion of the body) and watching the lower
extremities for voluntary motion. The presence of various
orthopedic deformities of the lower extremities also helps in
determining the motor level.
The flat neural plate is exposed, raw, and red. The surface
represents what should have been the interior of the spinal
cord. There is a midline groove, a vestige of the neural groove
that is continuous with the central canal of the normal cord.
Cerebrospinal fluid (CSF) flows down through the central
canal and exits through the hole at the top of the neural
plate. This fluid should not be mistaken for rupture of the
underlying sac.
The plate is surrounded by membranous tissue of varying
width, formed by the skin and remnants of the arachnoid. At
some points around the neural plate, epithelialization may
have progressed to contact the neural tissue. The size of the
surrounding membrane is related to the amount of CSF in the
sac. When a small amount of fluid is present, the neural plate is
flush with the skin of the back (myelocele). A large amount of
fluid causes the sac to enlarge, and the plate is elevated above
the back (myelomeningocele). Through general usage, the
term myelomeningocele has been used to represent both of
these entities.
The ventral surface of the neural plate is composed of all
the elements that would normally have formed the outside of
the cord (Fig. 109.9). The ventral roots are just lateral to mid-
line, and the dorsal root pairs arise lateral to the ventral roots.
The roots cross through the subarachnoid space and exit
through the neural foramina in the usual fashion. The struc-
ture composed of the flattened neural plate and the nerve roots
is called the neural placode. The sac is lined by arachnoid, and
the dura mater forms the outermost layer of the open spinal
canal. It, too, is displaced laterally and blends together with the
skin at the margins.
Figure 109.8. (A) A large myelom-
eningocele with the neural placode
over the surface and neural groove
visible (arrow) in the midline. (B)
Intraoperative photograph of a
myelomeningocele with closure of the
neural tube into the dural sac (arrows).
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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
Figure 109.9. Schematic axial section of myelomeningocele. Prior
to closure, the neural placode has a structure resembling a spinal
cord that has been opened posteriorly. The dorsal surface shows a
remnant of the central canal in the form of a central groove (open
arrowhead). The ventral surface has an arachnoid lining continuous
with the arachnoid of the remainder of the spinal canal (thick line).
Although all the nerve rootlets are directed anteriorly, the ventral
roots leave the placode more medially and exit the spinal canal with
the dorsal roots through the neural foramina. The dura mater is
fused with the skin laterally (curved arrow), and the epidural fat has
formed anterolateral to that.
The initial incision in closing the defect is made at the junction of
the skin and thinned arachnoid membrane (small arrows), with care
taken to protect the nerve roots in the subarachnoid space. The mem-
brane is trimmed circumferentially from its junction with the neural
placode (curved open arrow). The neural placode may then be reconsti-
tuted into a tubular structure if desired. The dura is incised and dis-
sected from the skin at the junction (curved arrow) and then dosed in
the midline. If desired, the paraspinal muscle fascia may be dissected
laterally and reflected medially over the dura to effect another layer
of closure.
The spinal cord is essentially tethered by the neural placode
and its attachment to the skin. Although most myelomeningo-
celes found at birth are in the lumbosacral region, when they
occur at higher levels, the spinal cord and canal may have nor-
mal configuration both above and below the defect.
SURGERY
Priority should be given to early closure of the defect to decrease
the incidence of infection and ventriculitis, and thus the risk to
mental and physical function. A sac that demonstrates no leak-
ing should be closed within 24 to 72 hours during which time
a comprehensive evaluation of the patient and parent counsel-
ing and education can be undertaken. For a sac that is leaking,
prompt closure, usually within 24 hours is indicated.9 The risk
of infection remains low within 72 hours of birth. There has
been data to indicate that, with antibiotics, the risk of infection
does not rise until a week after birth.25
Several techniques for the repair of myelomeningoceles
have been reported.38 Many prefer the technique of anatomic
reconstruction. The neural tube may be reconstituted, but
the dural sac should be reconstructed to allow the neural
tube to lie within a CSF-filled space. This is an attempt to pro-
vide the best milieu for the neural function of the placode
LWBK836_Ch109_p1149-1178.indd 1155
1155
and to limit the possibility of retethering at the site of repair.
Viable neural function can persist in the placode at birth and
is suggested by the presence of function below the level of a
myelomeningocele, the postoperative recovery of motor func-
tion, and electrophysiologic studies performed on the neural
placode.
The surgery is done under general anesthesia, with adequate
intravenous access and bladder catheterization. Perioperative
antibiotics may be used, but no evidence exists that supports
the use of postoperative antibiotics to prevent meningitis or
ventriculitis. During dissection of the neural placode, both
bipolar coagulation and magnified vision (using an operating
microscope or loupes) are necessary to minimize injury to the
neural structures.
Significant hydrocephalus manifests in only 15% of the neo-
nates at the time of closure, but it does subsequently develop in
more than 90%, and most of these cases require CSF diver-
sion.17 A ventriculoperitoneal shunt may be placed at the same
time as spinal defect closure in those patients with enlarged
ventricles. The baby can be placed supine with a doughnut-
shaped pad used to protect the myelomeningocele defect, or a
prone position can be used.
Closure of the spinal defect is accomplished with the patient
in a prone position on appropriately sized chest rolls. The oper-
ative field is prepared widely, out to the flanks, so that relaxing
incisions or more extensive cutaneous flaps may be used,
although they are rarely needed.
The initial step is to isolate the neural placode. The junc-
tion of the abnormal epithelium and arachnoid remnant with
the normal skin is incised circumferentially. The incision enters
the subarachnoid space, and the nerve roots traversing this
space must be identified and preserved. Traction on the pla-
code and spinal cord is avoided. All viable skin is preserved at
this point; in larger defects, this skin may be necessary to effect
closure.
Under magnified vision, the edges of the neural placode
are then trimmed of skin fragments, dural remnants, and fat.
Their inclusion in the closure has been implicated in the
delayed development of an epidermoid tumor in later life.48
Then, the placode may be reconstituted into a tube by sutur-
ing the lateral arachnoid edges together (avoiding the neural
tissue) with 7-0 Prolene suture. Reconstitution of the neural
tube has been suggested as another step to prevent tethering
of the spinal cord; involution of the raw surface presents a
smooth pial surface that should not adhere to the healing
dural repair.38
Before reconstitution of the dural sac, the proximal and distal
ends of the dysraphic spinal canal should be carefully inspected
for concomitant tethering or masses (diastematomyelia, lipoma,
dermoid, thickened filum terminale, epidermoid). A dural sac
and closed subarachnoid space are then recreated by dissecting
out and closing the dura (Fig. 109.10). The junction of the dural
with the skin laterally is identified and sharply incised. The loose,
fatty tissue beneath the dura represents the everted epidural fat.
Using blunt dissection underneath the dural and sharp dissec-
tion across its lateral junction with the skin, the largest amount
of dura possible is isolated and then closed in the midline. Medial
dissection of the dura is avoided, because the dura becomes very
thin in the region where the nerve roots exit.
Dural substitutes and grafts have been used to achieve a
competent CSF-filled tube.11 However, the skin and subcutane-
ous closure overlying these grafts often have difficulty healing,
9/1/11 7:52:36 PM
 1156 Section IX Dysplastic and Congenital Deformities
neural placode
junctional zone
skin
dorsal root fascia
dura
ventral root epidural space
vertebra
A time myelomeningocele closure has been suggested in these
B for increasing deformity because the paraspinal muscles are
C dence and severity of scoliosis directly correlating to the level of
D and signs of progressive hydrocephalus. These include apneas,
E is placed. Ventriculitis in the presence of hydrocephalus, or the
Figure 109.10. Drawing depicting the conceptual steps in surgi-
cal repair of myelomeningocele. (A) Axial cross-section of the
myelomeningocele. Note that the placode mimics an open book, with
the ventral roots lying medially and the dorsal roots lying laterally.
(B) Reconstruction of the neural tube. The placode is dissected from
the surrounding tissue by incising the junctional zone. All dermal
remnants are resected, and the neural tube is reconstituted by closing
the pia with a 7-0 monofilament suture. (C) Reconstruction of the
thecal sac. The dura is dissected free from its junction with fascia and
skin. The goal is a watertight closure without causing constriction of
the closed neural placode. (D) Midline fascial closure. Relaxing inci-
sions may be necessary to mobilize an adequate amount of fascia.
(E) Midline skin closure. (Redrawn from Cohen R, Robinson S.
Myelomeningocele: early management. In McLone D (ed). Pediatric
neurosurgery, 4th ed. Philadelphia, PA: WB Saunders, 2000:241259.)
and wound breakdown is a serious risk. Delayed, severe reactive
fibrosis leading to inflammatory masses and retethering, even
with Silastic material, has also precluded the frequent use of
these graft materials. Purse-string closures of large neural tube
defects have been reported by some with good results in achiev-
ing effective coverage without the need for autogenous skin
grafts or local flap mobilization. The skin and subcutaneous
tissues are dissected together from the dorsal fascia, preserving
the blood supply to the skin. These are closed in two layers in
the midline; the junction of dural attachment to the skin pro-
vides strong tissue to suture together. Myocutaneous flap rota-
tion has been advocated by some for good closures.
Significant thoracolumbar kyphosis is present in approxi-
mately 15% of the myelomeningoceles at birth. This may be so
LWBK836_Ch109_p1149-1178.indd 1156
severe that the vertebral bodies actually lie dorsal to the plane
of the back. This not only makes closure more difficult but
there is also risk of immediate and delayed skin breakdown at
the site of the bony prominence. In these cases in particular,
the paraspinal muscles act as spine flexor, ultimately aggravat-
ing the kyphosis. Kyphectomy by means of vertebrectomy at the
cases.20 The dural sac is dissected from the prominent underly-
ing vertebral bodies, and corpectomies are performed, reduc-
ing the kyphosis. Closure of the canal may then be easier, and
healing may be enhanced by removal of the bone that would
have caused pressure necrosis. This may reduce the potential
returned toward a position that is more consistent with exten-
sor function. In these cases, significant blood loss may be
encountered during the epidural dissection and corpectomy.
Patients with high-level myelomeningocele have significant risk
for progressive spinal deformities and scoliosis, with the inci-
motor dysfunction. In older children and adults, multilevel spi-
nal fusion and instrumentation with or without spinal cord
transection enables a high degree of correction of kyphosis but
are associated with high rates of complications.
The patient without a shunt is observed for the symptoms
pulse drops, decreased activity, an increase in the head circum-
ference, and tenseness of the fontanelle or spinal repair. Serial
ultrasound examinations can be used to follow the size of the
cerebral ventricles. If hydrocephalus develops, the patient is
checked for signs of infection, and, if none is identified, a shunt
infection of a previously placed shunt, must be treated appro-
priately. This may necessitate the externalization of the shunt
or the placement of an externalized ventriculostomy, with con-
current antibiotic coverage.
The operative mortality rate associated with myelomeningo-
cele repair has been reduced to nearly zero.27 With careful dis-
section and the use of bipolar coagulation, blood loss is mini-
mal. Wound infection remains somewhat problematicup to
12% in one series, but without any wound dehiscence or other
major sequelae. When CSF leakage occurs, it is usually self-
limited or resolves with appropriate shunting of the underlying
hydrocephalus.
CLOSED DYSRAPHIC STATES
INTRODUCTION: GENERAL TYPES AND CLINICAL
PRESENTATION
Occult dysraphic states include spinal lipomas and lipomyelom-
eningocele, split cord malformations (SCMs), dermal sinuses,
myelocystoceles, the tight filum terminale, and the loosely
defined tethered cord (Table 109.5). Although they arise
from different errors of embryology, these states all result in
tethering of the spinal cord, with symptoms that are more a
result of the tethering rather than a result of the specific embry-
opathy.
Advances in neuroimaging have enabled the early detection
of these malformations that would otherwise remain silent until
manifest clinically by the tethered cord syndrome (TCS).
Magnetic resonance imaging (MRI) in particular has allowed
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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment 1157

TABLE 109.5 Occult Spinal Dysraphic States

Anomaly Suspected Embryologic Origin MRI Appearance

Fatty filum terminale Defective retrogressive differentiation Filum lipoma >2 mm thick
Lipomyelomeningocele Incomplete separation of neural tube from ectoderm Low or dorsally positioned conus
(below L2-3)
Split cord malformations Persistent neurenteric canal Duplicated cord, with or without septum
Types I and II
Inclusion lesions (dermoid, dermal Incomplete separation of neuroectoderm Sinus tract isointense lesion, minimal
sinus tract) enhancement
Neurenteric cysts Persistent neurenteric canal Isointense cyst (CSF); cord displacement
Terminal syringohydromyelia Persistent ventriculus terminale Syrinx or expanded central canal cephalad
to dysraphic state (split cord or tight
filum)
Myelocystocele Open neural tube defect in conjunction with Myelo/lipomyelomeningocele, wit cystic
hydromyelia component

From Keating RF, Multani J, Cogen PH. In Winn HR (ed). Youmans neurological surgery, 5th ed. Philadelphia, PA: Saunders, 2004:3258.

the neuroanatomic details to be defined and categorized well
before their inevitable clinical impairments become evident.5
Patients with occult spinal dysraphic states may present with
various systemic and focal manifestations related to cutaneous,
neurologic, orthopedic, and urologic systems (Table 109.6).
A number of cutaneous findings are markers for some of
these underlying dysraphic defects (Fig. 109.11). There may be
a hairy patch, a nevus, an appendage or skin tag, or a small
dimple with a pinhole. Hypertrichosis has been commonly
associated with diastematomyelia and a large subcutaneous fat
collection with spinal lipomas. Any combination of these find-
ings may be present in a given defect.
A dimple or pinhole is usually found in conjunction with a
dorsal dermal sinus. Such a pit located above the sacrum is fre-
quently associated with an intraspinal component and should
be explored regardless of the radiologic findings. Any dimple
or pits located off the midline also warrant further investiga-
tion. A sinus or pit at the end of the coccyx, however, does not
usually have an intraspinal component and does not need fur-
ther neurosurgical evaluation.
TETHERED CORD SYNDROME
The origins of the complex clinical signs and symptoms that
make up the TCS have long been controversial. This entity was
first described in 1957. The pathophysiologic mechanism of
injury was elucidated by the demonstration of impaired oxida-
tive metabolism in the lumbosacral cord of patients with the
same presentation and its improvement neurologically and
Clinical Manifestations of
TABLE 109.6
Occult Spinal Dysraphism
Cutaneous Urologic Orthopedic
Pinhole dermal sinus Neurogenic Foot/leg
tract bladder deformities
Asymmetric gluteal cleft Urinary tract Scoliosis
infection
Subcutaneous lipoma Incontinence Sacral agenesis
Hypertrichosis
Capillary hemangioma
metabolically after untethering surgery. Hence, this syndrome
with its etiology derived from a traction-induced, vascular-
hypoxic injury to the caudal spinal cord has now been generally
accepted. This stretch-induced functional disorder included
other anomalies such as myelomeningocele, lipoma, lipomy-
elomeningocele, diastematomyelia, meningocele manqu, and
dermoids. Recently, reports have described the distinctive clini-
cal syndrome of TCS in patients with radiographically normal
level conus and the potential benefits of surgical detethering in
these patients.18
Clinical Presentation
Pain in the lower back radiating into the legs, perineum, or
genitals is a frequent complaint in TCS. Flexion of the back
causes increased pain; a more lordotic posture or pelvic tilting
decreases the pain but can aggravate gait changes. There is
often concurrent spasticity of the extremities. Gait changes are
also a frequent presenting complaint that may be accompanied
by postural changes. These changes manifest in up to 30% of
the patients, particularly when there are sensory or motor defi-
cits present that extend into the lower lumbar or sacral region.
The sensory changes may be vague, asymmetric, and need not
be present in a dermatomal distribution. A decrease in perineal
sensation may be the earliest change.
Urologic symptoms are much less common and rarely do
younger children come to attention because of them. As the
children become older, failure to toilet train, incontinence,
and frequent infections make the diagnosis more obvious.
Urodynamic testing frequently demonstrates voiding dysfunc-
tion and has been advocated as a useful screening and monitor-
ing tool to select potential patients for surgical detethering.18
Although an indirect measure of clinical improvement follow-
ing medical or surgical treatment of voiding dysfunction,
patients screened for surgery by this method were shown to
harbor pathological abnormalities of the terminal filum.
In most patients, the focus of tethering is in the lower tho-
racic or lumbosacral regions. Higher lesions, however, may have
more extensive neurologic symptoms and deficits. Patients with
lesions tethering the cervical cord can have patchy numbness
and incoordination of all four extremities, with atrophy of por-
tions of the upper extremities. Weakness may be asymmetric,

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 1158 Section IX Dysplastic and Congenital Deformities

A B C

Figure 109.11. (A) Cutaneous stigmata of pinhole dermal sinus tract over the lumbar surface with surround-
ing hairmagnified. (B) Nevi may be multiple and can be found in conjunction with other stigmata. (C) Hyper-
trichosis is usually associated with diastematomyelia.

and deep tendon reflexes may range from hypoactive to hyper-
active. As with the lower lesions, the cutaneous manifestations
that may be present are often ignored until more severe neuro-
logic deficits have developed.
There is an infrequent form of cervical dysraphism that has
been called either a meningocele or cervical myelomeningo-
cele. It differs from typical myelomeningoceles in that it is well
covered by skin and initially has intact neurologic function
below the level of the lesion. The spinal cord remains within
the canal; however, a fibroneural stalk extending from the cord
through a small dorsal defect in the thecal sac effectively teth-
ers the cord. Simple resection of the cutaneous portion of the
lesion is insufficient to prevent subsequent neurologic decline;
laminectomy, intradural exposure, and untethering are neces-
sary to definitively treat this lesion (Fig. 109.12).
The proposed pathophysiologic mechanisms accounting for
the symptoms involve motion and stretching of the spinal cord
and roots with daily activities. This stretching is usually dissi-
pated over many spinal levels. Tethering prevents this dissipa-
tion of energy, and there may be more focal traction on the

A B C

Figure 109.12. (A) This 7-month-old boy presented with uri-

nary dysfunction and decreased strength in all extremities. He
had undergone resection of a sac from the dorsal aspect of his
neck shortly after birth. This midsagittal magnetic resonance
scan shows the spinal cord within the canal and dorsal attach-
ments through a spinal defect (arrowheads) to the site of prior
subcutaneous repair (1.5 T, TR 650, TE 20, 3-mm thickness).
(B) Axial magnetic resonance image through the level of spinal
defect clearly shows the cord tethered dorsally (1.5 T, TR 650,
TE 20, 3-mm thickness). (C) Intraoperative photograph demon-
strating the normal cord connected to the subcutaneous tissue
by fibrous bands (arrow). (D) The bands have been divided
(arrowheads), untethering the cord and allowing primary closure
D
of the dura.

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
cord, leading to injury of the neural tissue. The postural
changes that these patients adopt might represent an attempt
to minimize these traction forces. This mechanism might also
account for the association of symptom onset with physical
exertion or patient growth. Vascular injury to the cord second-
ary to the stretching has also been suggested as a causative fac-
tor. Direct distortion of the nerve roots around a lipoma or
neural plaque has been observed and may relate to some find-
ings of weakness, incontinence, and pain.
Surgery
The surgical indications have generated as much controversy as
the diagnosis itself and must be approached in a rational man-
ner based on the primary anatomical anomaly and the risk of
or actual clinical deterioration. There has been a preponder-
ance of opinion that children with tethering dysraphic lesions
should undergo preventative detethering surgery considering
its natural history. No randomized controlled studies have been
conducted. The degree of surgical complexity varies with the
actual lesion and its location. Techniques will be discussed
below under the respective anomalies.
LIPOMYELOMENINGOCELE
Lipomyelomeningoceles and lipomyeloceles are occult dys-
raphic states comprising a partial dorsal myeloschisis with
lipoma fused to the dorsal aspect of the open spinal cord. They
are anatomically analogous to the myelocele and myelomenin-
gocele. These defects account for between 20% and 56% of all
occult spinal dysraphism, and approximately 20% of skin-cov-
ered caudal masses.44 Considering the occult nature of the
lesion, its prevalence is uncertain, although increasing num-
bers have been detected incidentally on MRI in adults. Its inci-
dence in diagnosed cases are estimated to be about one in 4000
births, or approximately 25% of that of open myelomeningo-
cele defects, with female predominance of 2:1.
No concrete etiological factors have been determined.
Folate supplementation has no effect on incidence of lipomy-
elomeningocele. Rare familial cases have been reported but no
clear genetic patterns have been delineated.
Embryology
Several theories have been proposed to account for the presence
and attachment of the lipoma to the spinal cord defect. Lipo-
cytes are found normally in the pia arachnoid, and overgrowth
of these cells has been suggested. Embryologically, fat and blood
vessels are derived from the mesenchyme, and the lipoma may
arise from the mesenchyme that penetrates the spinal cord dur-
ing embryonal vascularization. McLone and Naidich28 have pro-
posed that a single error of neurulation, premature ectodermal
disjunction, can account for this entity. If the ectodermal junc-
tion with the neural folds prematurely separates, mesenchymal
cells can migrate inside of the forming neural tube. The ecto-
derm then fuses dorsally, with the skin subsequently covering the
underlying defect. Myeloschisis results from the mesenchymal
tissue preventing neural tube closure. The ventral surface of the
neural plate continues to differentiate normally, forming the
nerve roots, just as in the myelomeningocele.
Researchers suggest that the inside of the neural tube, which
is normally not in contact with the mesenchyme, can only
LWBK836_Ch109_p1149-1178.indd 1159
1159
induce the mesenchyme to differentiate into fat. The outside of
the neural tube induces the mesenchyme to form the normal
pia arachnoid and dura, and normal subarachnoid spaces form
ventral to the neural plate. The neural plate, arachnoid, and
lipoma form a junction at the lateral edge of the neural plate.
This would account for the fatty tissue not being observed to
invade the dura or enter the subarachnoid space, but being
found to extend up the central canal.
In lipomyeloceles, the cord remains in the spinal canal, with
the junction of the lipoma and cord also within the canal. The
shape of the lipoma, however, can alter the shape of the neural
plate. An oval-shaped lipoma may thin the neural tissue out into
a convex cover. A lipoma that bulges laterally can form the neu-
ral tissue into a wedge and appear to be within the lipoma.
Completely intradural lipomas constitute less than 5% of all spi-
nal lipomas. They are more frequent in the cervical or thoracic
regions, although they may occur throughout the spinal cord.
The spinal canal is more nearly normal in these cases, often with
only a narrow spina bifida. The dura is intact but thinned, with
the lipoma dorsal or dorsolateral to the spinal cord.
Clinical Presentation
Although several series of lipomyelomeningoceles have been
reported, no series documents the natural history of this
lesion.13 Most patients are normal at birth and through the first
year of life, although sudden neurologic deterioration has been
observed. McLone reports on a newborn that was neurologi-
cally normal at birth but had developed lower extremity
monoplegia and dribbling of urine by 6 weeks of age. The inci-
dence of neurologic deficits begins to increase during the sec-
ond year of life, and by early childhood, most patients have
some neurologic deficit.
The patients are frequently referred at an early age for eval-
uation of the presumed cosmetic deformity caused by the sub-
cutaneous fat. The mass is typically located above the interglu-
teal cleft but may extend into one buttock. In 50% of these
patients, there are associated cutaneous markings such as a
midline dimple or dermal sinus, a hairy patch, or a heman-
giomatous nevus (Fig. 109.13; Table 109.7).
In the past, many physicians considered this primarily a cos-
metic problem. Resection of the cutaneous stigmata was under-
taken at an early age without addressing the unrecognized
intraspinal component. Families would be unaware of, or
neglect, the subtle and progressive neurologic deficits that
concurrently involve the lower extremities and bladder. As
adults, these patients could have acutely aggravated deficits. It
is important to recognize that these infants and children have
cutaneous stigmata of dysraphism much more frequently than
older children and adults. Thus, a careful neurologic examina-
tion and a thorough urologic evaluation are required.
Neurodiagnostic imaging provides the information needed for
proceeding with appropriate surgery.
The most common neurologic problem is urologic, affect-
ing approximately one half of patients and is much more com-
mon in adults.13 Manifestations include recurrent urinary tract
infections, problems with micturition, and incomplete voiding.
Urodynamic studies are often abnormal. Early detection of uro-
logic dysfunction in childhood may be reversible. In older
childhood and adults, prognosis is worse with stabilization
being the goal. However, detection of urologic dysfunction in
infants is quite difficult.
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 1160 Section IX Dysplastic and Congenital Deformities

A B

Figure 109.13. Cutaneous manifestations of lipomyelomeningocele. (A) The fatty subcutaneous mass just
above the intergluteal crease is identified easily. On physical examination, it is fixed to the skin and underlying tis-
sues and is not truly mobile. A small dimple is identified (arrow) off midline. (B) This patient has a less prominent
collection of fat, but a clearly identified skin tag and dimple located above the gluteal crease. Such cutaneous man-
ifestations may be present in 50% of these patients.

Orthopedic problems are present in approximately one third
to one half of patients. This includes lower-extremity deformi-
ties, scoliosis, trophic ulcers, and hip subluxations. Lower extrem-
ity abnormalities include leg length discrepancies and clubfoot,
most commonly with equinovarus malformation.
Pain is often the most common symptom in older children
and adults and is usually limited to the local lumbar spinal
region. It is often exacerbated by activity, such as stretching,
bending, walking, running, or trauma. Other neurological prob-
lems include motor or sensory impairments. Electromyography
will detect abnormalities in about half of asymptomatic patients
and in the majority of symptomatic patients.
Imaging
In neonates, ultrasound examination of the distal spine and
lipoma can often delineate the lipoma and spinal dysraphism.
Plain film radiography shows increased lumbar lordosis, seg-
mentation errors of the vertebral bodies (hemivertebrae,
fused vertebrae), and sacral deformities (partial agenesis) in
up to 50% of patients. The extent of dorsal dysraphism
revealed on plain films helps with the surgery. Above the
lipoma, the last intact neural arch often has an absent or
stubby spinous process. There may be several vertebral arches
caudal to this with laminar processes directed posteriorly, but
failing to fuse in the midline. At surgery, a fibrous band is
found between these bifid processes. At the most widely bifid
levels, the lipomyelocele or lipomyelomeningocele herniate
from the spinal canal. If the canal reconstitutes beneath the
defect, these laminar defects reform to normal in reverse
order.
MRI has replaced computed tomographic (CT) myelogra-
phy as the best diagnostic procedure.40 Although the instilla-
tion of contrast into the CSF is required to outline the ventral
aspect of the neural plate on CT, MRI allows visualization of the
neural plate directly. The orientation of the neural plate in the
canal and its shape with respect to the lipoma can be directly
observed with the different planes of scanning generated by
MRI. MRI has also allowed the detection of other associated
anomalies previously unrecognized. One such example is the
apparent association of lipomyelomeningoceles with Chiari
malformation type I with an incidence significantly greater
than that of the general population.

Surgery
Cutaneous Stigmata of
TABLE 109.7 The goal of surgery is to release or untether the cord. Total
Lipomyelomeningocele
removal of the lipoma from the cord should not be attempted,
Midline or paraspinal mass because the lipomatous tissue extends into the substance of the
Focal hirsutism cord. Complete eradication of the fat would injure functioning
Dermal sinus neural tissue, causing the deficits that the surgeon is trying to
Rudimentary tail prevent. Successful and safe untethering of spinal cords from
Atretic meningocele
lipomas, with debulking of the intramedullary portions can
Capillary hemangioma
occur with minimal associated morbidity and mortality.28 Early

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment 1161

diagnosis and neurosurgical repair increases the likelihood of

preserving and improving preoperative functions, including
bladder function.10
In a series of 120 patients who underwent surgery reported
by Arai and colleagues,6 they were able to classify lumbosacral
lipomas based on neuroimaging into five types: dorsal type,
caudal type, combined type, filar type, and lipomyelomeningo-
cele. All patients underwent untethering of the spinal cord and
were followed with a mean postoperative period of 9 years.
They demonstrated no significant deterioration in most patients
with improvement in function in some. Two different patient
groups of lumbosacral lipomas were identified: one group
(caudal and filar type lipomas, and most of dorsal type lipo-
mas) in whom the surgical anatomy was simple and satisfactory
untethering surgery could be done without risk, and another
(combined type lipomas and lipomyelomeningocele) in whom A
surgery was associated with some risk and considering the com-
plicated anatomy of the lesion, complete untethering was not
achievable. In another series by Colak and colleagues, a signifi-
cant recurrence of symptomatic retethering occurred in 20%
of patients who underwent microsurgical debulking of lipomas
with untethering. Similar long-term favorable results were dem-
onstrated in the majority of patients.10
At surgery, the child is placed prone on supports to allow
the abdomen to hang freely. The skin is incised in the midline
and undermined bilaterally to allow some retraction indepen-
dent of the lipoma. Care is taken not to devascularize the skin
by undermining too superficially within the subcutaneous fat.
The neural arches above the lipoma are identified and isolated.
The last intact arch and the bifid arches with fibrous bands are
dissected out. Laminectomies are performed as far cephalad as
B
is necessary to expose normal-appearing dura.
Under magnified vision, the dura is opened, starting from
Figure 109.14. Schematic axial section through lipomyelomenin-
the normal area superiorly. Several millimeters lateral to the
gocele. (A) The large mass of lipomatous tissue in the lipomyelom-
junction of the neural plate, lipoma, and dura, the incision is eningocele is continuous with the subcutaneous and epidural fat. The
carried down the side of the neural plate with the larger suba- interface with the neural tissue (small arrows) is indistinct. No attempt
rachnoid space (Fig. 109.14A). The other side is then incised to completely free the neural tissue from the lipoma should be made
under direct vision. The larger subarachnoid space can usually because this invariably will injure the spinal cord. The initial incision
be identified from the preoperative MRI, CT, or ultrasound into the subarachnoid space (outlined by the thickened line) is begun
scans, but intraoperative ultrasound can also be used to delin- from a region of normal dura and extended along the neural tissue 1
eate it. If the incision is made too close to the cordlipoma or 2 mm lateral to the junction of the dura, lipoma, and spinal cord
junction, dorsal roots entering the lateral aspect of the plate (large arrows). (B) In this instance, the neural tissue and lipoma have
formed asymmetrically, with one side (arrow) deeper within the bony
could be cut. Occasionally, the neural plate cannot be com-
canal. This formation results in shorter nerve roots and a smaller sub-
pletely disconnected along one side because nerve roots have
arachnoid space, on that side. The initial incision into the subarach-
been incorporated into or enveloped by the lateral wall of the noid space should be done on the up side (asterisk).
lipoma.
In some cases, the lipoma develops asymmetrically, resulting
in the neural plate being tilted (Fig. 109.14B). There is a
large subarachnoid space on the up side, with long nerve tube and spinal canal without restriction. The neural tube is
roots extending from the plate to the foramina. The down reconstituted by suturing together the small rim of dura left
side, however, has very short roots, often causing difficulty in attached to the edges of the lipomacord. As with the myelom-
dissection of the dural junction on that side. Even when the eningocele repair, this attempts to limit possible retethering by
dura has been freed circumferentially, these short roots may presenting a smooth pial surface. The dura is closed primarily,
appear to functionally tether the cord. Whether these short if possible, but frequently there is a lack of sufficient dura. If
roots will lengthen after release of the dural attachments is necessary, the fascia or cadaver dura is used to construct a capa-
unknown. cious canal, allowing the cord to be surrounded by CSF.
The lipomatous mass can then be debulked using either an A number of natural and synthetic dural substitutes have
ultrasonic aspirator or the laser (Fig. 109.15). Adjacent to the been used with only anecdotal experience. Experimental evi-
neural plate, resection of the lipoma is guided by the definition dence from animal studies recognized the potential for adverse
of the neural tissue observed from the preoperative MRI or CT effects from graft material and hence their potential for post-
scan. Again, complete resection of the lipoma from the cord is operative adhesion- and fibrosis-induced spinal cord tethering.
not attempted, just debulking to allow closure of the neural Silastic patches have been associated with fibrosis and delayed

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 1162 Section IX Dysplastic and Congenital Deformities

A B

Figure 109.15. Intraoperative untethering of lipomyelomeningo-

cele. (A) The dura has been opened (starting over the rostral normal
cord to the left), and the lipoma was disconnected as it penetrated the
dura (arrow heads). (B) The bulk of the lipoma has been vaporized with
a handheld CO2 laser (arrowheads outline the cavity). Lipoma is not com-
pletely resected to preserve the attached neural tissue. (C) The pial
edges of the now smaller lipoma have been sutured together, limiting the
region of potential retethering. The dural will be closed primarily or with
C
a patch if necessary to create a capacious cerebrospinal fluid space.

retethering.11 There is experimental evidence that Silastic
material reinforced with Dacron fibers incites a severe inflam-
matory reaction that is not seen with plain Silastic sheeting.
One study comparing four different dural substitutes including
Surgicel, Durasis, DuraGen, and Preclude indicated that
DuraGen produced the least amount of inflammation in the
subarachnoid space and Preclude generated the most.
Bioabsorbable synthetic copolymer and microporous polyester
urethane dural substitutes continue to evolve that have the
potential of inducing less inflammation.
The subcutaneous tissue and skin are closed in the midline.
Because of the lipoma, the paraspinal muscles and their fascia
have been displaced laterally, and usually are not available for
midline closure. Commonly, CSF collects postoperatively in
the subcutaneous pocket left by resection of the lipoma. This
is usually transient, resolving completely over several weeks.
The patient is kept flat for several days after the operation to
decrease this accumulation and prevent tension on the
wound.
SPLIT CORD MALFORMATIONS
The term SCM refers to a form of occult dysraphism in which
the spinal cord is longitudinally split by a fibrous band or a
bony spicule. A number of entities were described under this
term including diastematomyelia, neurenteric cyst, dorsal intes-
tinal fistula, and intestinal duplication, diverticula, and malro-
tation. Pang and coworkers presented a unified theory of
embryogenesis based on the presence of an anomalous neuren-
teric canal, and they have compiled an extensive collection of
experimental and clinical data to support this theory.33 This
appears to account for the many variations in abnormal anat-
omy that are associated with the split cord anomalies.
Embryology and Anatomy
Both types of SCM are thought to have similar embryogenesis,
despite their distinguishing features. The unified theory of
SCM proposed by Pang and coworkers postulates the formation
of an adhesion between the ectoderm and endoderm as the
primary anomalous event.34 This results in the persistence of
the accessory neurenteric canal between the yolk sac and
amnion. Division of the neural canal and notochord ensues,
with the persistence of an endomesenchymal tract. From here,
the neural tube may split into two separate entities upon which
SCMs are classified, based on the anatomy of the clefted region.
SCM type I comprise two hemicords, each within a dural sac
and separated by a dural-sheathed, rigid osseocartilaginous sep-
tum. SCM type II, or diplomyelia, has the two hemicords within
a single dural sac but separated by a nonrigid, fibrous median
septum. There is no overlap in the two criteria that separate
types I and II, that is, state of the dural tube and nature of the
septum. SCM type I is more common comprising about 60% of
cases. The true incidence of SCM type II is not known, but has
been reported to be between 16% and 60%.22,31
Both types of SCMs are lesions that tether the spinal cord
during growth and development.33 Various ectodermal or
endodermal remnants may persist, leading to the development

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
of dermal sinus tracts, lipomas, dermoid, or neurenteric cysts.
A meningocele or myelomeningocele may also form.
Diastematomyelia
The term diastematomyelia was first used in 1837 to describe
a spinal cord split sagittally, with two dural sleeves that reformed
above and below the split. In current usage, diastematomyelia
refers to the sagittal cleaving of the spinal cord or filum termi-
nale over one or many levels. The actual cleft does not always
extend completely through the cord. In some cases, the cleft is
partial, with cord tissue present on either the ventral or dorsal
aspect, opposite the entrance of the cleft into the canal.
Diastematomyelia should not be confused with diplomyelia,
which represents a true duplication of the cord, including two
sets of motor and sensory roots.
The site of cord cleaving is most frequently in the thora-
columbar region; cervical and upper thoracic diastematomyelia
is uncommon. The cord reunites distally in 90% of the cases,
but the split in the spinal cord often extends well above and
below any dural split.
Clinical Presentation
SCMs have reported a marked predominance of female
patients, approaching a ratio of three to one over males.22 Cuta-
neous manifestations are present in most patients (50% to
90%), most commonly as a hairy patch or nevus, often marking
the level of the diastematomyelia. Up to 25% of patients with
diastematomyelia concurrently have myelomeningocele. In
these patients, the diastematomyelia is often not detected until
long after the closure of the myelomeningocele.
A relatively small percentage of these patients are completely
without symptoms, and the SCM is discovered after investiga-
tion of the cutaneous findings or during incidental evaluation
of the spine. Although up to 40% of the patients may be with-
out symptoms or signs initially, without surgery, some neuro-
logic change manifests in nearly all patients.33 Adult patients
share many of the presenting findings with children, but more
frequently they have pain and urologic dysfunction. Adults
have pain that is perineal or perianal with a dysesthetic quality.
Their symptoms are often initiated or exacerbated by physical
activity. Children present less frequently with pain and are usu-
ally without the perineal component or dysesthetic quality. In
children, their symptom progression is insidious in nature.
In some patients, scoliosis may be the only symptom. The
severity of the scoliosis progresses as the patient gets older.
Whether the scoliosis has a neurologic basis is unclear, because
almost all patients concurrently have multiple vertebral anoma-
lies. It has been estimated that 5% of the patients with congeni-
tal scoliosis have diastematomyelia.
Most patients with SCM have symptoms of the TCS, with as
many as 75% having at least one orthopedic deformity. In 20%
to 60% of diastematomyelia patients, a collection of findings
involving the lower extremities, back, and trunk, with an other-
wise normal neurologic examination, has been termed the
orthopedic syndrome. Typically, the patient has a stiff or pain-
ful lower back, scoliosis, and a congenitally shorter or smaller
leg and foot on one side (Fig. 109.16). The foot may show varus,
valgus, or cavus deformities. In adult patients, chronic foot
ulceration or poor wound healing with intact sensation has
been described.
LWBK836_Ch109_p1149-1178.indd 1163
1163
Figure 109.16. Foot deformity in patient with diastematomyelia.
The congenitally smaller and deformed foot of a patient with
diastematomyelia. The ipsilateral calf and leg were smaller and
shorter than the other side.
In the other large group of patients, neurologic symptoms
predominate. There is unilateral calf wasting, with weakness of
the ankle and absent ankle reflex. There may be mixed upper
and lower motor neuron signs, with hyperreflexia of the ipsilat-
eral knee and other leg. Up to 50% of these patients also have
scoliosis.33 There is some overlap in the clinical presentation of
the two groups.
Imaging
Plain radiography in SCMs reveals the often extensive dysraphic
changes in the spinal column and is useful for defining and
following up the frequently associated scoliosis. Anomalies of
the vertebral bodies, canal, and laminae are present in more
than 90% of patients, most commonly as segmentation errors
including hemivertebrae, butterfly vertebrae, and fused and
bifid laminae.
MRI should be used as the screening test for an SCM.15 It is
a noninvasive technique, without ionizing radiation, and can
allow the evaluation of the entire spine, displaying the spinal
cord structure directly. Although it may be limited by the
patients severe scoliosis and its inability to directly show bone,
it is extremely good at revealing associated anomalies. Syrinx
cavities extending into one or both hemicords have been dem-
onstrated in nearly 50% of patients.42 Distal tethering lesions,
including thickened filum terminale, lipomas, and dermal
sinus tracts, have also been seen in 40% to 90% of these
patients.33
When an SCM is identified by MRI, myelography, and CT
scanning using water-soluble contrast can be performed to
define the dural sleeves, the septum and its degree of ossifica-
tion, and the relationships to the hemicords in preparation for
surgical resection. CT is the best modality to show bony anoma-
lies and is particularly helpful in defining the origin and termi-
nation of the cleaving spur on the vertebral body and on the
lamina (Fig. 109.17). The spur ossifies from multiple centers
and the degree of ossification increases with time. At the level
of the diastematomyelia, the vertebral bodies are hypoplastic,
the intervertebral disc spaces are narrowed, and the interpedic-
ular distance is widest.
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 1164 Section IX Dysplastic and Congenital Deformities

Figure 109.17. Three-dimensional computed tomography recon-

struction of a split cord malformation type I (diastematomyelia with
dual dural sleeves). (A) Posterior view reveals the central spur arising
from the left side of the lamina and dividing the canal (black arrow). In
this patient, many lamina are incomplete; there is fusion of the pedi-
cles, and hemivertebrae (white arrows). (B) Axial view demonstrates the
direction and location of the bony spur as it divides the canal (R des-
A
ignates right side).

The most severe anomalies of adjacent vertebral bodies
occur in the SCM type I (Fig. 109.18). The ossified septum (or
spur) usually projects rostrally and ventrally, is oriented some-
what obliquely, and is always at the distal end of the spinal cord
cleft.33 The spur can fuse with any bony structure in the region,
laminar remnants, vertebral body, or ribs. It usually forms a
mushroom-shaped bony cap over the dorsal aspect of the dural
tube, with hypertrophic laminae and large spinous processes.
In SCM type II, the vertebral anomalies are less frequent and
less severe, and may be completely absent (Fig. 109.19). The
fibrous septum that will tether the hemicords may not be visual-
ized by either CT myelography or MRI, but it is always present.
The pathophysiology of symptoms in diastematomyelia has
been thought to primarily involve traction on the spinal cord
caused by the dividing septum, whether bony or fibrous.33 This
theory supposes that the septum tethers or impacts on the lower
edge of the spinal cord cleft, and, as the spinal column moves
relative to the spinal cord, traction is applied to the cord. Simple
impingement of the spur on the distal crotch of the split cord
during periods of increased growth (early infancy and adoles-
cence) does not appear to be a major factor in causing symptoms.
Most patients are seen between ages 17 months and 6 years,
before there is significant spinal growth. The more recent dem-
onstration by Pang that SCM types II lesion have relatively rigid
attachments, however, does account for the symptoms in those
patients previously identified with no bony spur. Tethering of the
spinal cord by a tight filum terminale, dermal sinus tract, lipoma,
or myelomeningocele, may cause symptoms. There also may be
regional effects on the spinal cord at the cellular level, involving
local ischemic effects or the development of syringomyelia.
Surgery
As with other forms of spinal dysraphism, the goals of surgery
include the stabilization of any symptoms, prevention of further
deterioration, and possible reversal of any neurologic deficits.
Even in asymptomatic patients, surgery is indicated to prevent
the likely deterioration that can be expected but whose onset
cannot be predicted.
The SCM type I lesion is approached from the dorsal aspect,
with the patient in the prone position. The laminae around the
dorsal attachment of the spur are dissected free and removed,
exposing the normal dura above and below the spur. These
laminae are often bifid, and dissection down the medial aspect
of a split lamina should be avoided. The dissection is usually
more lateral than anticipated, due to the widened interpedicu-
lar distances at the level of the defect.
The bony cap over the dura at the dorsal aspect of the spur
is removed, starting from its edges and working toward the cen-
ter of the spur, until the vertical portion is identified. Once the
spur has been identified, the dura is dissected from the spur
under magnified vision, with the surgeon avoiding transmitting
pressure to the hemicords. A plexus of veins is found in the
epidural space around the dural cleft and spur. Bleeding from
this venous plexus, and from one or several vessels within the
spur itself, is controlled with bipolar coagulation, bone, wax,
and gel foam. A diamond bit drill is then used to reduce the
spur to the level of the posterior aspect of the vertebral body.
The dura is then opened in the longitudinal direction, down
both dural tubes and around the cleft. Any adhesions or bands
that are tethering the cord segments are released. The cuff of
dura forming the cleft is excised, allowing the two cord seg-
ments to lie in a single dural tube. To avoid injuring the hemi-
cords, the anterior opening in the dura should not be closed;
adhesions between the anterior dural surfaces and the poste-
rior longitudinal ligament prevent CSF leakage. The dorsal
dural defect is closed in a standard fashion, if necessary using a
graft to prevent compression of the cord. If there is an associ-
ated tethering lesion (lipoma or thickened filum), concurrent
repair is then undertaken.

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment 1165

A B

Figure 109.18. Split cord malformation type I (diastemato-

myelia with bony septum and two dural sleeves). (A) The bony
spur of the diastematomyelia is discernible in this anteroposte-
rior spine radiograph (arrow). The spur is not always easily seen
owing to the often extensive segmentation abnormalities. The
upper level of the split cord is marked by the white arrow. The
widest interpediculate distance is at the level of the spur (arrow-
heads). (B) An axial computed tomographic section obtained
after myelography with metrizamide, a water-soluble contrast
agent, can reveal exquisite detail in cases of diastematomyelia.
The two halves of the spinal cord (C) and their relationship to
the bony spur (S) are easily seen. The bone forming the spur
(between the curved arrows) can be distinguished from the con-
trast enhanced cerebrospinal fluid by virtue of its higher den-
sity (higher Hounsfield value). In this case, the dorsal and
ventral roots on one side can be visualized (small arrows).
(C) This coronal magnetic resonance image through the
midthoracic region reveals the asymmetrical splitting of the spi-
nal cord (arrows). The high signal in the middle of the canal is
due to fatty tissue within the spur (asterisk). The intermediate
signal just beneath the spur (curved arrow) may be from tissue
between the dural sleeve and the inferior aspect of the spur.
Review of axial and sagittal sections can further define the loca-
C tion of the spur and its relationship to the neural structures
(MRI 1.5T, TR 500 msec, TE 21 msec, slice thickness 0.5 mm).

SCM type II lesions are approached in a similar fashion.
After the laminectomy, the single dural tube is incised in the
midline. The tethering bands are found at the caudal end of
the cleft, with the attachment to the cord structures always
slightly rostral relative to the dural attachment. These attach-
ments usually span the diameter of the dural sleeve, but com-
pletely dorsal and completely ventral bands can be encoun-
tered. Inspection of the ventral surface, either between the
hemicords or by gently rotating them, is necessary to ensure
complete untethering. Central blood vessels are always present
in the septum, and paramedian nerve roots are frequently seen.
Both are coagulated and divided during the procedure.
Morbidity as a direct result of surgery is infrequent. Most
patients with neurologic symptoms (80% to 90%) experience
stabilization or improvement in their symptoms postoperatively.
Pain is the symptom most likely to resolve. Motor and sensory

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 1166 Section IX Dysplastic and Congenital Deformities

C D

Figure 109.19. Split cord malformation type II (diastematomyelia with one dural tube). (A) Dorsal view of a three-
dimensional computed tomography reconstruction shows a large cap of bone formed by the dysplastic lamina of T810,
and the hypoplastic lamina of T11. The hole in the lamina (arrow) contained a fibrous stalk and blood vessel connected to
the dura. (B) Axial computed tomography through T8 shows the enlarged canal without a bony spur and the hole in the
lamina identified in part A (arrow). (C) Magnetic resonance image (1.5 T, TR 900, TE 15, 3-mm thickness) clearly shows
the split in the spinal cord. On other views, no septum was appreciated, but a syrinx cavity was present above the split.
(D) Intraoperative photograph alter the laminectomy and opening of the dura. The split cord is seen on either side of a
fibrovascular septum, which had been continuous with the dura dorsally and extended anteriorly. Division of both the
anterior and posterior connections to the spinal cord is required to achieve untethering. The dura is then closed primarily.

deficits are the next most likely symptoms to resolve. There is a
clear correlation with and shorter symptom duration with bet-
ter outcome. Scoliosis can be expected to stabilize in most of
the patients initially; therefore, consideration of fusion should
be delayed for many months after surgery. Urologic dysfunc-
tion is least likely to improve, but it is usually stabilized.
Neurenteric Cyst
Intramedullary or extramedullary intradural neurenteric cysts
result from an embryologic communication of the neuropore
with the future gut. It is not clear whether this is due to an
abnormal connection of the endodermal tissue with the dorsal
structures due to herniation or due to anomalies of the neur-
enteric canal. These rare cystic lesions are more common in
the cervical and lower thoracic levels. The symptoms are typical
for an intramedullary or intraspinal mass, with varying degrees
of paresis or a central cord syndrome. Pain is common and may
be local or radicular. Meningismus and recurrent infection can
also be present.
The diagnosis and treatment planning are best achieved
with MRI. Surgery involves attempted resection of the intraspi-
nal component and untethering of the spinal cord, usually
through a posterior or posterolateral approach. An anterior
approach may be necessary for some thoracic lesions, as well as
to address the associated vertebral malformations.

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
Dermal Sinus Tracts
Dermal sinus tracts occur in approximately 1 in 2500 live
births.2,37 They are seen most frequently in those regions of the
spine representing the last place of neural tube closure. A pub-
lished review of all DST reported 41% occurred in the lumbar
region, 35% at the lumbosacral junction, 10% in the thoracic
region, and 1% in the cervical region.2 Their embryologic
development is most likely due to a single error during neuru-
lation, which helps to account for their presenting symptoms,
signs, and findings.
Embryologically, dermal sinuses may be due to incomplete
disjunction of the ectoderm from the neural tube. If the ecto-
derm remains attached to the forming neural tube in one spot,
a tract lined by epithelia and surrounded by dermal elements
can be formed from the skin to the spinal cord. As the spinal
cord ascends during later fetal development, this tract is
drawn out and appears to go up the canal, resulting in its
termination several levels cephalad to its origin on the skin.
These tracts typically traverse the subcutaneous tissue and deep
fascia directly from their skin opening and then go through a
bifid lamina and end at or before the dura, although it has
been reported that 60% penetrate the dura. It may end open in
the subarachnoid space, terminate at the filum terminale or
within the cauda equina, or connect directly to the conus med-
ullaris. Focal expansion of this ectoderm-derived tract results in
dermoid or epidermoid tumor formation. Up to 60% of the
dermal sinuses entering the spina canal include or end in an
epidermoid or dermoid tumor; however, only approximately
30% of intraspinal dermoid tumors have an associated sinus
tract.2
In the past, patients with dermal sinuses were usually diag-
nosed after treatment of recurrent meningeal infection or after
signs of spinal cord tethering became evident. The ostium is
the access point for infection of the CSF. Bacterial meningitis
can lead to arachnoiditis or abscess formation. The patients
may also suffer from aseptic meningitis due to leakage of the
epidermoid cyst into the CSF. The mass effect of a growing epi-
dermoid or dermoid tumor may cause symptoms. Because pri-
mary care physicians are more aware and investigate the other-
wise innocuous cutaneous openings, this entity is being
diagnosed earlier. Examination of the back in these patients
almost always reveals some cutaneous manifestation, usually a
pinhole (ostium) in the midline. The ostium often has a few
hairs arising from it. Rarely is there more than one hole nor is
the hole off midline. Sometimes a hemangioma may surround
the ostium. Dermal sinuses at sacrococcygeal levels rarely have
intraspinal extension or tethering of the cord. All sinuses above
this level should be evaluated by MRI.
Imaging
The radiographic evaluation of these tracts is more limited
than in other forms of spinal dysraphism; plain radiographs
may demonstrate dysraphism, and ultrasound can be used in
neonates to define the level of the conus and the presence of
intraspinal masses. Both MRI and plain CT may miss the
intraspinal portions of these small tracts. The extraspinal por-
tion is seen contrasted against the fatty subcutaneous tissue that
it passes through (Fig. 109.20). CT scanning after intrathecal
contrast enhancement of the CSF is very useful in defining the
intraspinal anatomy, but, in a small child, general anesthesia
LWBK836_Ch109_p1149-1178.indd 1167
1167
may be needed to perform this scan. MRI can be performed
without anesthesia and can yield valuable information regard-
ing the position of the conus and the presence of any intraspi-
nal tumors. Because of the limited intraspinal visualization
provided by either of these studies, any dermal sinus seen above
the sacrococcygeal region should be explored, regardless of the
neuroradiologic findings.
Surgery
The goals of surgery are to untether the spinal cord from the
tract. In the process, any access for infection should be removed
as should any associated epidermoid or dermoid tumors. With
the child in the prone position, a midline skin incision with
elliptical excision of the ostium is performed. The tract is dis-
sected out and followed through the fascia to the spinal canal,
usually entering between two laminae or through a bifid lam-
ina. A laminectomy exposes the dural entrance. The dura is
opened in the midline just below the tract entrance, and the
site of dural penetration is excised. The dura must be opened
to conclusively demonstrate the termination of the tract
entrance, even if the tract appears to end at the dura (Fig.
109.21). Because the tract may extend for several levels
cephalad, the exposure and laminectomy may need to be
extended. Before transecting the tract, the proximal termina-
tion of the tract is visualized, thereby ensuring that no intra-
dural lesion exists and that the cord is indeed fully untethered.
Separation of the tract and associated tumors from neural tis-
sue is usually readily accomplished, even if there has been prior
infection. The remainder of the closure is performed in the
usual manner. An alternative approach can also be considered.
The tract is divided intradurally, after opening the dura to
make sure that there is no dural adhesion; then rather than
extending the laminectomy to the cord attachment, the authors
propose following the patients with MRI. This approach is pre-
ceded by a quality MRI, to make sure that no dermoid/epider-
moid cysts are missed superiorly. At present, there is no
literature to support this, but pathological examination of the
tracts yields only fibrous elements. After completion of tract
sectioning, closure is performed in the usual manner.
MENINGOCELES
Dural pouches formed from defects of the dura and arachnoid
that do not contain neural elements are called meningoceles.
The defect may arise anteriorly, laterally, or posteriorly. The
anterior defects are typically in the sacral or thoracic regions.
Lateral meningoceles form through the neural foramina, most
frequently in the thoracic region. Posterior meningoceles are
most common and are typically found in the lumbar region
where they have developed through a dorsal laminar defect but
remain deep to intact skin. They are characteristically not asso-
ciated with lower extremity weakness, hydrocephalus, or Chiari
malformation. In the presence of a concomitant spinal dys-
raphic lesion, such as SCM, lipomas, dermal sinus tract, or
inclusion cysts, these patients are at risk for TCS.
Plain radiographs of the affected region show a limited
region of spina bifida, with the spinal canal widened at the level
of the meningocele. Myelography with CT scanning or MRI
reveals the CSF-filled sac. The communication with the spinal
canal, or neck, can be quite variable in size. MRI is replacing
the CT myelogram as the diagnostic procedure of choice. MRI
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 1168 Section IX Dysplastic and Congenital Deformities

A B

Figure 109.20. (A) Plain radiograph of the lower lum-

bar spine in a patient with a dermal sinus tract reveals only
a small spina bifida seen at S1 (arrow). (B) Sagittal mag-
netic resonance image (1.5T, TR 2000 msec, TE 30 msec,
5-mm slice thickness) shows the spinal cord ending at
approximately the L4 level. There is also an intradural
lipomatous mass at the junction of the cord and sinus tract
(arrow). With these image parameters, the tract itself is dif-
ficult to identify. (C) Sagittal magnetic resonance image
(1.5T, TR 2000 msec, TE 80 msec, 5-mm slice thickness)
easily visualizes the low signal tract traversing the higher
signal subcutaneous fat (small arrows). The extradural por-
tion of the tract as it enters the spinal canal (curved arrow)
is outlined by a small amount of epidural fat. With these
signal parameters, the intradural portion of the tract and
C
spinal cord are poorly seen.

allows concurrent visualization of the sac and neck of the
defect. It may also allow herniated neural tissue in the defect to
be distinguished from other associated tumors or masses, such
as dermoids or lipomas.
The repair of posterior meningoceles can be approached in
a fashion similar to that of myelomeningocele repair. Normal
dura is exposed just above the lesion; often this requires a one-
or two-level laminectomy above the neck of the lesion. When
the neck is very narrow, it exits through only one or two dysplas-
tic laminae. The dural incision is made in the midline, with the
surgeon being careful to avoid any herniated neural tissue.
Neural elements are replaced within the spinal canal. In lumbar

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
A B
Figure 109.21. (A) Cutaneous dimple manifestation of dermal sinus tract. (B) Release of dermal sinus tract. The tract
shown here held by forceps is followed from the subcutaneous fat to the dura. After identifying the rostral point of attachment,
the tract will be divided and excised from the dura, which can then be closed primarily.
meningoceles, the filum terminale is often identified as tether-
ing the cord and is divided. The dural defect, subcutaneous
tissues, and skin are closed in the midline.
Anterior meningoceles are most common in the sacral
region, usually herniating through a focal bony defect. Over
time, however, the defect can enlarge through remodeling of
the bony canal by the CSF pulsations. Women are affected more
commonly than do men. Anterior meningoceles may occur as a
part of Currarinos triad that consists of anorectal malforma-
tions, sacral bony abnormalities, and a presacral mass.41
Symptoms include vague abdominal discomfort, chronic con-
stipation, decreased anal and bladder tone (or incontinence),
recurrent urinary tract infection, and sacral hypoesthesia. If the
pelvic sac becomes very large, significant CSF fluid shifts can
occur between the sac and the spinal canal. This can result in
symptoms suggestive of both high and low pressure.
Anterior sacral meningoceles are usually unilateral and
asymmetric; on plain films, they are seen as a widening of the
lumbosacral canal with scalloping of the sacrum and inferior
sacral lamina. When the sac becomes large, the remaining
sacrum may become remodeled into the crescentic scimitar
shape. On MRI scan, the spinal cord is usually identified in a
low-lying position, with the conus near the neck of the defect.
Occasionally, the cord is tethered by a lipoma or dermoid
tumor, which can extend into the defect.
Surgical closure of these defects is done through a sacral
laminectomy. This approach allows the identification and resto-
ration of neural elements to the canal, the untethering of the
spinal cord, and direct closure of the neck. A staged anterior
abdominal approach may be necessary when the sac is huge but
can be complicated by the adherence of the meningocele to
the rectum and bleeding from surrounding displaced epidural
veins. More recently, laparoscopic treatment of anterior sacral
meningoceles has been attempted in small series of patients
with satisfactory results.
Lateral meningoceles are found most often at the thoracic
and lumbar levels, most frequently in patients with neurofibro-
matosis. They protrude through one or more neural foramina.
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1169
In the thoracic region, they can extend into the extrapleural
space of the posterolateral thoracic gutter. They are associated
with scoliosis, with the meningocele on the outside of the curve
and the neural elements in the canal displaced to the inside of
the curve. Surgical closure of the sac is often combined with
orthopedic approaches to the scoliosis.
ALTERED CAUDAL DEVELOPMENT
The normal embryogenesis of the distal end of the spinal cord
and filum terminale involves the formation of the caudal cell
mass, canalization of the mass, and then retrogressive differen-
tiation of these structures. Aberrations in these developmental
steps can lead to the formation of a myelocystocele or a tight
filum terminale, which are both forms of occult spinal dysra-
phism.
During embryogenesis, adjacent structures are the precur-
sors for the hindgut and urogenital systems. Anomalies of these
structures are frequently associated with these dysraphic states;
tight filum terminale has been associated with anal malforma-
tions, and myelocystoceles often occur concomitantly with
exstrophy of the bladder and cloacal exstrophy.
Tight Filum Terminale Syndrome
Classically, patients with tight filum terminale syndrome have
symptoms of a tethered cord and are found to have a short,
thickened filum terminale and a low-lying conus medullaris,
without other tethering conditions. There is a subgroup of
patients identified in a number of reports with the typical clini-
cal presentation of TCS but with the conus at a normal position.
The embryologic error accounting for the tight filum is not
clear. There may have been failure of the terminal cord to invo-
lute or failure of the filum to lengthen as the embryo grew.
Females are more often affected than males, and the typical
age of presentation relates to periods of rapid gain in height,
between 5 and 15 years. The symptoms and signs are typical of
tethered cord patients. Motor weakness, pain, and bladder
9/1/11 7:52:45 PM
 1170 Section IX Dysplastic and Congenital Deformities

ably reveal a midline spina bifida of the lower lumbar or upper

sacral lamina. The conus medullaris is found below L2 in 82%
to 86% of these patients.49 On axial imaging, the thecal sac may
appear triangular because the filum is tightly stretched against
the dura dorsally; the filum may be difficult to distinguish in
these cases. The filum is usually thickened and infiltrated by
fatty or fibrous tissue. Fat in the filum is seen in 6% of the nor-
mal population but in 91% of those with tethering (Fig. 109.23).
In 10% to 15%, no filum is identified and the spinal cord is
shown to extend into the distal thecal sac.49 A filar fibrolipoma
may be present in as many as 29% of patients; it is easily seen as
either a low-density mass on CT scan or as a mass with high-
intensity signal on T1-weighted MRI scans.
Surgical treatment usually requires a limited laminectomy
below the level of the conus. The filum terminale is examined
under magnified vision, and normal nerve roots are dissected
clear. The filum is then coagulated and divided, without using
metallic clips that could interfere with later MRI scan. In cases
with more extensive tethering of the conus medullaris, a more
extensive laminectomy with careful dissection distal to the
nerve roots is required. As with other forms of tethered spinal
cords, symptomatic relief occurs frequently, and reversal of sco-
liosis has been reported in up to one third of the patients.

Figure 109.22. In this metrizamide myelogram, the conus is Terminal Myelocystocele

found in the region of L4, with a thickened filum terminale identified
extending into the sacrum (arrows). This finding was confirmed on
postmyelographic computed tomography scanning.
dysfunction are most frequent. Scoliosis is present in 17% to
25% of patients. A cutaneous marker (skin dimple, heman-
gioma, or hypertrichosis) is present in 50%.
CT myelography and MRI are both excellent studies for
defining the tethered cord and thickened filum and for ruling
out other conditions (Fig. 109.22). Axial images almost invari-
In terminal myelocystocele, the distal end of the spinal cord
balloons into a terminal cyst and is tethered within the subcu-
taneous tissue. These lesions account for between 4% and 8%
of all lumbosacral skin-covered masses. At birth of the neonate,
myelocystoceles are composed of a skin-covered sac, which may
be small or quite large, in the intergluteal fold. Affected chil-
dren may have normal intellectual development; some are
born with no neurologic deficits, but the deficits develop over
time. Others have a variable degree of caudal neurologic dys-
function present at birth.

A B

Figure 109.23. Findings revealing thickening of the filum. (A) MRI showing thickening of the filum and
infiltration by lipoma (arrow). (B) Thickening of the filum as observed by endoscopy during surgery with
infiltration by lipoma (arrow). (From Bao N, Chen ZH, Gu S, Chen QM, Jin HM, Shi CR. Tight filum termi-
nale syndrome in children: analysis based on positioning of the conus and absence or presence of lum-
bosacral lipoma. Childs Nerv Syst 2007;23:11291134.)

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment 1171

On plain radiographs, distal spina bifida is seen, with a

TABLE 109.8 Chiari Malformations*
variable occurrence of vertebral body fusion or sacral agene-
sis. As with other forms of lumbosacral dysraphism, the bony Chiari I Cerebellar tonsils extend below foramen magnum
canal is widened, appears shallow in the AP dimension, and is Chiari II Abnormal corpus callosum
frequently scoliotic or rotated. Ultrasound can be used to Large thalamic massa intermedia
define and distinguish this from other entities, such as a Beaked tectum
Small posterior fossa
sacralcoccygeal teratoma. The mass consists of two sacsa
Low-lying torcula
trumpet-shaped dilation of the terminal spinal cord and a
Hindbrain extends into cervical canal
more proximal enlarged subarachnoid space. The dilated ter- Kinked cervicomedullar junction
minal cyst is in direct continuity with the central canal of the
Chiari III Occipitocervical encephalocele
spinal cord. It is smooth and lined with ependyma and dys-
Chiari IV Absence of cerebellum
plastic glia.
Hydrocephalus
Based on his operative findings and the normal embryogen-
esis, McLone and Naidich have proposed the following mecha- *All are associated with hydrocephalus.
nism of formation.29 For unknown reasons, CSF accumulates
within the neural tube. As canalization of the caudal cell mass
occurs, the CSF expands into and dilates the terminal ventricle.
As the terminal ventricle bulges, it disrupts the dorsal mesen- CHIARI MALFORMATIONS
chyme but not the ectoderm, resulting in a skin-covered spinal AND SYRINGOMYELIA
dysraphism. As the bulging distal cord continues to grow, it
causes the dilation of the distal arachnoid space and prevents CHIARI MALFORMATIONS
the spinal cord from ascending. Ultimately, the bulging distal
spinal cord extends caudally, into the extraarachnoid space, In the 1890s, Chiari described four types of hindbrain anoma-
where it fuses to the surrounding tissue. lies associated with hydrocephalus that now bear his name
(Table 109.8). The Chiari III malformation includes an enceph-
alocele. This type has subsequently been described with varying
Dysraphism Associated with Anorectal Malformation degrees of brain stem compression, herniation of the cerebel-
There is clearly an association between congenital anomalies of lum through an occipitocervical defect and the foramen mag-
cloacal-derived structures and tethering lesions of the caudal num, and various other anomalies. The Chiari IV malformation
spinal cord. More than 50% of patients with anorectal, uro- has complete absence of the cerebellum (Fig. 109.24).
genital, or sacral anomalies may be found by MRI to have The Chiari I malformation has no brain stem malformation
lesions tethering the spinal cord.46 Patients with severe cloacal but the cerebellar tonsils extend below the foramen magnum
anomalies tend to have more frequent and complex spinal (Fig. 109.25). A survey of patients undergoing MRI for symp-
cord anomalies. For example, those with cloacal exstrophy have toms unrelated to Chiari malformation revealed tonsillar her-
more severe cord anomalies than those with imperforate anus, niation below the foramen magnum in more than 15%.1
and those with high imperforate anus have more complex Patients with symptoms of a Chiari malformation had tonsillar
anomalies than those with low imperforate anus. Tethering displacement more than 3 mm below the foramen magnum.
lesions of the spinal cord, however, are not limited to patients Tonsillar herniation of 2 to 3 mm appears to be insignificant
with abnormal radiographs or severe anorectal anomalies, and and can be considered normal. Recent studies employing
they are not excluded by normal sacral radiographs, low imper-
forate anus, or the absence of symptoms. Most of these patients
are clinically stable, although it may be difficult to separate
symptoms and signs of dysfunction due to the developmental
anomalies from those caused by tethering.
Anorectal and urogenital structures arise from a common
cloaca at approximately 7 weeks of gestation. Just dorsal to the
cloaca and differentiating at approximately 4 to 7 weeks of ges-
tation are the notochord and caudal cell mass (ultimately
becoming the caudal neural tube). Because of the proximity of
the two regions and the timing of their development, terato-
genic events may affect one or both regions concurrently or
may affect one region with induced changes in the other. Pang
gives an extensive review of the normal embryology and poten-
tial aberrations of this region that could lead to associated cau-
dal anomalies and spinal cord tethering.34
MRI screening for evidence of occult spinal cord tethering
is recommended in all patients with urogenital, anorectal,
and sacral anomalies. If discovered, prophylactic untethering Figure 109.24. A Chiari IV malformation. This patient was origi-
should be performed. Because these patients are clinically nally diagnosed with a Dandy-Walker malformation due to the cere-
stable, neurosurgical intervention can be delayed in those brospinal fluid within the posterior fossa. The magnetic resonance
patients undergoing significant abdominal or pelvic recon- image clearly shows the absence of cerebellar tissue and pontine
structions. crossing fibers.

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 1172 Section IX Dysplastic and Congenital Deformities

Figure 109.25. A Chiari I malformation. This

3-year, 6-month-old child presented with decreased
tone in the right leg and a foot drop; the upper
extremities were normal. (A) In this midsagittal mag-
netic resonance image (1.0T, TR 350 msec, TE 15
msec, 3 mm thickness), the posterior fossa is of normal
size, but the cerebellar tonsils extend below the level of
the foramen magnum (between arrowheads). A syrinx is
seen in the cervical cord and extended throughout the
spinal cord and extended throughout the sinal cord.
The haustra-like markings are not indicative of locu-
lated fluid and are common in syringomyelia. (B) In
this T2-weighted image (1.0T, TR 3800 msec, TE 102
msec, 3 mm thickness) cerebrospinal fluid has bright
signal, but none is detected around the spinal cord and
A B
cerebellum at the level of the foramen magnum.

MRI-cine CSF flow techniques determined abnormal CSF flow a Chiari II malformation. The symptoms may occur at any age
pattern significantly more often in patients with symptomatic but are the most prominent cause of morbidity and mortality in
Chiari I malformation than in patients with asymptomatic ton- the first two decades of life. The symptoms vary depending on
sillar ectopia.17 In addition, there appears to be a high degree the age at presentation, and multiple symptoms are common
of correlation between occipital headaches and hindbrain CSF (Table 109.9). In infants, symptoms of brain stem dysfunction
flow abnormalities on MRI CSF flow studies regardless of the typically develop and include difficulties with swallowing that
degree of tonsillar ectopia.26 manifest as poor or slow feeding or repeated aspirations, apnea,
The Chiari II malformation is an extensive constellation of and stridor from vocal cord paresis. Older children are less
anomalies affecting the entire brain, skull, and spinal cord to likely to have brain stem dysfunction, but extremity weakness
varying degrees, almost invariably associated with myelomenin-
gocele (Fig. 109.26). Typically, the posterior fossa is small, and
the cerebellum, pons, and medulla are displaced to varying
degrees into the cervical canal. Although the foramen magnum
and upper cervical canal are wider than normal, there is a vari-
able degree of compression of the brain stem. In the supraten-
torial compartment, there may be abnormalities of the corpus
callosum, and the thalamic massa intermedia are enlarged.
Hydrocephalus is present in more than 90%.43 In the upper
brain stem, the tectum is beaked, and the cervicomedullary
junction is kinked in the cervical canal.
A unified theory of embryogenesis in patients with myelom-
eningocele that accounts for all the manifestations in Chiari II
malformations has been proposed. The ONTD in the distal
spine is one manifestation of a more generalized failure of the
neural ectoderm to appose and adhere. During normal embryo-
genesis, there is a temporary apposition and occlusion of the
neurocele that is thought to result in ventricular dilatation. In
the absence of this apposition, there is alteration of the induc-
tive pressures on the surrounding mesenchyme, resulting in Figure 109.26. A Chiari II malformation. This midline magnetic
the skull, posterior fossa, and hindbrain changes. The cerebral resonance image demonstrates many of the features of the malforma-
anomalies are thought to be the result of lack of distention of tion, with an abnormal corpus callosum, a large massa intermedia
the developing telencephalic ventricles. (asterisk), beaking of the tectum (white arrow), a small posterior fossa
Symptoms of hindbrain compression or dysfunction develop with a large foramen magnum, and cerebellar tissue extending below
in approximately 20% of children with myelomeningocele and the foramen magnum to approximately the C3 level (open arrow).

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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
TABLE 109.9 Chiari II Presenting Symptoms and Findings
Park et al (35)
Swallowing difficulties 69%
Apnea 58%
Stridor 56%
Aspiration 40%
Weakness 27%
Opisthotonos 18%
and recurrent aspiration predominate. The adolescent and
adult patients have been described with spasticity, sensory
changes, and scoliosis, but these may actually reflect the devel-
opment of syringomyelia and its associated symptoms. Symptom
progression is also more rapid in infants. Any cause for these
symptoms must account for the failure of many patients to
respond to surgical treatment. Suggested causes include con-
genital absence or hypoplasia of the brain stem nuclei and isch-
emia induced by the hindbrain compression.47
Shunt dysfunction or untreated hydrocephalus can mimic
all the symptoms of hindbrain compression. Therefore, the
hydrocephalus must be treated, and treatment of those patients
with hydrocephalus should begin with determination of the
adequacy of shunt malfunction. MRI has replaced positive con-
trast CT studies in the evaluation of the craniocervical junction
and in defining the anatomy of the Chiari malformation. MRI
allows direct visualization of the extent of hindbrain displace-
ment and compression in the cervical canal. The cerebellar dis-
placement with compression can extend anywhere between the
C1 and T1 levels. MRI of the entire spine may be necessary if
symptoms are suggestive of a syringomyelia. These patients may
also have coexisting conditions of the craniocervical junction,
such as basilar invagination, atlantoaxial instability, or segmen-
tation anomalies, which should be evaluated with plain radio-
graphs and CT.
Surgery
The treatment of symptomatic Chiari II malformations involves
decompression of the hindbrain, which is displaced into the
cervical canal. Although often referred to as a posterior fossa
decompression, the procedure is limited to the cervical spine.
Patients have an anomalous caudal location of the torcula and
dural venous sinuses frequently near to, or at, the enlarged
foramen magnum. Extension of the decompression above the
foramen magnum is risky and unnecessary.
The patient is placed in a prone position, a midline incision
is used to expose the foramen magnum and cervical lamina,
and laminectomies are performed. Intraoperative ultrasound
can be used to define the caudal extent of cerebellum and thus
the necessary extent of the laminectomy. In approximately 50%
of the patients, a very constricting dural band is found beneath
the posterior arch of C1. The dura is opened in midline,
extending from below the caudal cerebellum up to the fora-
men magnum. The dura is closed with a dural substitute patch
to create an expanded space.
LWBK836_Ch109_p1149-1178.indd 1173
1173
Study
Pollack et al (36)
Vandertop et al (48) Infants Older Children
71% 77% 50%
29% 85% 17%
59% 92% 16%
12%
53% 23% 67%
54% 25%
Any intradural dissection is usually limited to opening the
foramen of Magendie in those cases with an enlarged fourth
ventricle. Extensive dissection or resection of the cerebellar tis-
sue risks injury to the underlying brain stem. If the patient has
a significant syrinx that extends into the operative exposure,
fenestration and placement of a Silastic syringosubarachnoid
shunt can be undertaken. It does not appear necessary to iden-
tify and plug the obex in these patients, because there is usu-
ally no clear indication of direct communication between a
syrinx and the fourth ventricle. Patients with syringomyelia who
postoperatively demonstrate syrinx enlargement or progressive
neurologic decline should undergo secondary shunting of the
syrinx.
The outcome after surgical decompression appears directly
correlated with the severity of symptoms at presentation.47 In
particular, the presence of vocal cord paralysis or stridor is pre-
dictive of poor outcome. Older patients with long tract signs
are the most likely to respond to decompression. Most infants
stabilize or recover completely, although the results of treat-
ment in infants have been mixed with a 12% to 40% mortality
rate. The high mortality rate in neonates occurs in those with
severe brain stem dysfunction. This lack of response to decom-
pression may be secondary to structural anomalies of the brain
stem that are unaffected by decompression or to ischemic
injury that has become irreversible by the time of operation.
SYRINGOMYELIA
Syringomyelia describes a pathologic cavitation of the spinal
cord. Hydromyelia defines an enlargement of the central canal
of the spinal cord. Although these may be two distinct pro-
cesses, in practice, it is extremely difficult to distinguish between
the two, and the terms have often been used interchangeably.
Since the advent of MRI, syringomyelia is much more fre-
quently detected, often before any symptoms are present.
MRI has shown that patients with tethered cords, spinal dys-
raphism, and Chiari I malformations are particularly at risk for
the development of a syrinx. Many of these patients have small
cavities that remain stable, and the patients remain asymptom-
atic.32 The symptoms associated with a syrinx may be related to
interference with spinal cord function. The classic hanging
sensory loss may result from interruption of the spinothalamic
sensory fibers as they cross the spinal cord near their level of
entry. Impairment of motor function can occur; involvement of
the cervical cord can lead to atrophy of the hand intrinsic mus-
cles. Scoliosis is a frequent presenting symptom in patients with
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 1174 Section IX Dysplastic and Congenital Deformities
a syrinx. Patients with a Chiari I malformation may experience
occipitocervical headaches that are exacerbated by maneuvers
that increase intracranial pressure, such as straining, coughing,
and laughing.
Observation of the dynamic flow of CSF across the foramen
magnum on MRI and intraoperative ultrasound in patients
with lesions obstructing the foramen magnum has lead to a
theory of the origins of syringomyelia based on the obstruction
of CSF flow across the foramen magnum. Obstruction of flow at
the foramen magnum by the cerebellar tissue in Chiari malfor-
mations prevents accommodation in the spinal subarachnoid
space to a pulse of CSF flow and pressure generated at systole
with each heartbeat. The isolated spinal subarachnoid space
has altered hydrodynamic forces acting on the spinal cord,
forcing fluid into and down the cord. This theory can account
for most forms of syringomyelia and the similar results from
various operative treatments that involve decompression of the
foramen magnum.
Results from the only significant study of the natural history
of syringomyelia give clear indications for the treatment of this
disorder. Only 35% of patients who received no treatment had
no progression of their symptoms, and most of these were only
mildly affected. Continuous progression of symptoms occurred
in 55%, and 10% had intermittent progression. More impor-
tantly, the clinical course was unpredictable. Patients with small
cavities who are asymptomatic can be followed up with serial
MRI scans.
Treatment begins by establishing the function of any CSF
shunt in place or with treatment of coexisting hydrocephalus.
Ventricular shunting had been used as a primary treatment of
syringomyelia based on the water-hammer theory, in which
pressure was presumed to be transmitted through a patent con-
nection to the central canal. In the absence of imaging and
pathologic evidence for this theory, routine shunting in the
absence of hydrocephalus is not indicated.
Presently, patients with occlusion to CSF flow at the foramen
magnum, such as is seen with Chiari I malformations, undergo
a posterior fossa decompression with duraplasty. The technique
is similar to that used for Chiari II decompressions, but the
craniectomy and dural incision are extended above the fora-
men magnum to ensure adequate decompression. Although
the torcula and transverse sinuses are in a more normal posi-
tion (differing from the Chiari II malformation), significant
bleeding can result when the circular sinus at the level of the
foramen magnum is divided. If the syrinx cavity extends far
enough cranially that it is exposed by the decompression, fen-
estration to the subarachnoid space can be done. Otherwise,
no other intradural manipulation or extension of the laminec-
tomy for the purpose of syrinx fenestration is undertaken.
Posterior fossa decompression with a variety of intradural
manipulations has been used many years with variable success.
The syrinx decreases in 40% to 60% of patients. Results with
decompression alone appear comparable.
Patients with a tethered cord and syrinx, and without hydro-
cephalus or compression at the foramen magnum, should
undergo untethering as the initial treatment. If the syrinx
enlarges, symptoms progress, or a large syrinx fails to shrink
after other treatment, direct shunting of the syrinx cavity is
undertaken. A limited laminectomy is performed at a relatively
caudal level over the syrinx cavity, avoiding the region of cervi-
cal and lumbosacral root exit. The cord is exposed and a small
fenestration into the syrinx is made. A small Silastic tube can
LWBK836_Ch109_p1149-1178.indd 1174
then be inserted directly into the syrinx. The distal end of the
syrinx shunt has been placed into the subarachnoid, perito-
neal, or pleural spaces with similar success; the subarachnoid
space should be avoided if arachnoiditis is observed or shown
by MRI.
With resolution of the syringomyelia, most patients experi-
ence an improvement or stabilization of their symptoms, even
if the syrinx does not completely resolve as shown by MRI.
These patients should be followed up both clinically and with
intermittent follow-up MRI scans.
ASSOCIATED CARE ISSUES
IN SPINAL DYSRAPHISM
Many of the patients with spinal dysraphisms have ongoing dis-
abilities or unique pathophysiologic problems that necessitate
long-term care. They are susceptible to delayed medical prob-
lems that may not be manifest at the time of diagnosis and ini-
tial treatment. These include neurologic (brain stem dysfunction
and compression, hydromyelia, retethering of the spinal cord),
urologic (incontinence, renal dysfunction), and orthopedic
(scoliosis, limb deformities, changes in ambulation) problems.
Social issues also change as the patient ages. Unrecognized or
untreated, these problems can lead to significant morbidity.
Nearly all patients with myelomeningocele and many with
lipomas of the spinal cord have some degree of neurogenic
bladder and bowel dysfunction that requires ongoing follow-up
and treatment. The timing and methods of evaluation have
been debated, but the need for appropriate care is well recog-
nized. There is some evidence that early urodynamic evaluation
can be predictive of those patients at risk for later upper urinary
tract deterioration. There has also been a suggestion that early
diagnosis and neurosurgical intervention results in preserved
and/or improved bladder functions. Use of clean intermittent
catheterization has become routine, avoiding the need for uri-
nary diversion procedures. Newer pharmacologic manipula-
tions, electric stimulation and biofeedback programs, and artifi-
cial sphincters now augment the care of these patients.
Patients and their families are most concerned at diagnosis
about the prognosis for ambulation. The most significant fac-
tor affecting ambulation is the degree of neurologic deficit.
Patients with sacral lesions should be independent ambulatory,
whereas those with upper lumbar lesions can achieve mobility
with wheelchair use. The prospects for ambulation in patients
with midlumbar lesions vary primarily as a function of the spe-
cific muscle groups affected rather than by formal neurologic
level. Confounding the prediction of function is the effect of
later neurologic injuries from Chiari compression, hydromy-
elia, or retethering. As many as 34% of clinically stable children
show a change in mobility toward increasing use of a wheel-
chair, perhaps as a response to changing social goals or the
increasing energy demands of a larger body and activity.
LATEX ALLERGY
There has been an increasing recognition of latex allergy in
patients with spinal dysraphism. This is an IgE-mediated reac-
tion that may be mild (with urticaria) or severe (with broncho-
spasm, laryngeal edema, and systemic anaphylaxis). The
prevalence of clinical allergic reactions may be as high as 20%
to 30%, but, in one report, the serologic evidence of sensitivity
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 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
was nearly 40%.45 The operative risk of severe reaction appears
low in patients without a history of reaction, but even condi-
tions in patients with prior reactions can be safely treated when
use of latex-containing equipment is avoided and appropriate
premedication is used. A history of latex allergy should rou-
tinely be elicited from all spinal dysraphism patients, and, for
those with allergy, appropriate safeguards should be main-
tained during their hospitalization.
RETETHERING AND REOPERATION
A subpopulation of myelomeningocele and lipomyelomenin-
gocele patients has been identified with the symptoms and
signs of TCS occurring many years after their original repair.
The incidence of this retethering in the myelomeningocele
population has been estimated at between 15% and 20%.16
This is based on relatively small studies, and the true incidence
is not known.
The diagnosis of retethering is primarily clinical. The
patients eventually come to the physicians attention because of
progressive loss of function, but the initial findings are often
subtle and best determined by careful and routine evaluations.
A coordinated schedule of periodic reevaluation of neurologic
and muscle function, scoliosis, and urologic function allows the
early detection of any deterioration. The most common symp-
toms of retethering include new or progressive weakness of one
or both legs, onset or progression of scoliosis, and a change in
gait (Table 109.10). Pain in the back or legs is much more fre-
quent in the lipomyelomeningocele patients. Urinary dysfunc-
tion, characterized by a change in the frequency of catheteriza-
tion or a loss of continence, and progressive foot and hip
deformities are also more common in the lipomyelomeningo-
cele patients.
TABLE 109.10 Tethering in Previously Operated Myelodysplasia
Symptoms and Signs
Weakness
New or progressive
One or both legs
Change in gait
Added support needed to ambulate
Pain
Localized to back or legs
Urinary incontinence
Change in catheterization frequency
Loss of continence
Scoliosis
New or progressive, >10
Progressive orthopedic deformities
Foot deformity
Hip dislocation
From Herman JM, McLone DG, Storrs BB, Dauser RC. Analysis of 153 patients with myelomeningocele or
spinal lipoma reoperated upon for a tethered cordpresentation, management and outcome. Pediatr
Neurosurg 1993;19:243.
LWBK836_Ch109_p1149-1178.indd 1175
1175
Proper functioning of any shunt should be established
before undertaking an untethering operation; a malfunction-
ing shunt can cause similar symptoms. An MRI scan of the teth-
ered region shows the level of the conus and often defines the
site of apparent tethering (most often, dorsal or dorsolateral).
Occasionally, hydromyelia, tumors (dermoid, epidermoid,
lipoma), or a diastematomyelia may be found. If further defini-
tion of an abnormality is needed, myelography with CT scan-
ning can be useful.
The surgical method for untethering the cord in these
patients is similar to that described for lipomyelomeningoceles.
Particular care must be taken to avoid incising and injuring the
neural placode or conus medullaris, which may be attached
dorsally to the dilated lumbar CSF space and immediately
below the skin. The dissection, exposure, and removal of the
last intact lamina superior to the site of tethering are performed
through a midline skin incision. The normal dura is identified
and opened into the intrathecal space. The dissection is contin-
ued alongside the adhesions, often exposing distorted,
stretched, and, particularly with lipomas, adhesed nerve roots.
Conditions (dermoid, lipoma, diastematomyelia) not visualized
on preoperative MRI scans are sometimes found only at opera-
tion. It is not always possible to completely untether the cord in
these patients, and the cord is not completely untethered in
between 6% and 8% of these patients due to extensive nerve
root adhesion and entrapment.
Operative morbidity is limited. CSF leakage is the most fre-
quent complication (in approximately 6% of cases), but rarely
requires reoperation. Immediate postoperative neurologic
decline, typically a minor loss of motor function, may be seen
(in 3% of cases) but usually resolves.
The reported results of surgery for retethering have been
good, with 70% to 75% of the patients improving from their
Patient Population
Myelomeningocele Lipomyelomeningocele
(n 100) (%) (n 53) (%)
55 47
54 43
32 57
6 21
51 11
11 32
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 1176 Section IX Dysplastic and Congenital Deformities

TABLE 109.11 Operative Results of Untethering

Patient Population

Myelomeningocele Lipomyelomeningocele

Symptom (%) (n ) (%) (n )

Motor function 67 (55) 52 (25)
Improved* 30
Unchanged 3
Progressed
Gait 72 (54) 59 (23)
Improved 26 41
Unchanged 2
Progressed
Pain 91 (32) 90 (30)
Improved 9 10
Unchanged
Urinary Incontinence 33 (6) 36 (11)
Improved 69 64
Unchanged
*
Improved by one spinal level.

Requires less assistance, increased walking tolerance.

Return to preoperative catheterization regimen or full continence.
From Herman JM, McLone DG, Storrs BB, Dauser RC. Analysis of 153 patients with myelomeningocele or
spinal lipoma reoperated upon for a tethered cordpresentation, management and outcome. Pediatr
Neurosurg 1993;19:243.

preoperative condition.16 Representative results from the study musculature related to abnormal ascending intersegmental
by Herman and coworkers16 are summarized in Table 109.11. pathways. Release of the cord reduces or eliminates these imbal-
Pain is the symptom that responded best to untethering. ances, allowing the scoliosis to improve or stabilize. The mecha-
Although two thirds of the myelomeningocele patients present- nism may be similar to that which accounts for upper extremity
ing with weakness improved, patients operated on for other improvement in children with cerebral palsy who undergo lum-
symptoms were also found to have improved motor function. bar dorsal rhizotomies.
Improvement in gait (less use of an ankle-foot orthosis,
increased walking endurance, improved stance) occurred in
60% to 70%; the only patient in this series with new and perma-
nent postoperative weakness accounts for the only failure in
this category. There was much less improvement in the small
group of patients with urinary difficulties.
The effect of untethering surgery on scoliosis is initially very
good, with 80% showing stabilization or improvement at 1 year
follow-up.23 When this group is subdivided based on the degree
of curvature at presentation, nearly all patients with a curvature
of less than 50 are stable or improved at 1 year, whereas most
of the patients with greater than 50 curves require fusion (Fig.
109.27). In ensuing years, however, as many as half of patients
in the less than 50 group have not undergone a spine fusion
and show further progression of their scoliosis. This delayed
progression of scoliosis may represent retethering, and an argu-
ment for reoperation can be made. It is not clear whether this
group of patients should undergo repeat operations, but, with
A B
the low morbidity and mortality associated with untethering
operations, subsequent operations can be considered. Perhaps,
Figure 109.27. Scoliosis change before and after untethering.
the ability to delay fusion until spinal maturity is reached might (A) In this 10-year-old patient with a lumbar myelomeningocele
result in fewer patients who ultimately need fusion. repaired at birth, a preoperative scoliosis of 18 was identified.
The reason that a patients scoliosis improves after untether- (B) Several months after untethering, the scoliosis had reduced to 3.
ing is unknown. Reversible ischemic injury to the spinal cord (Courtesy of Dr. David G. McLone, Childrens Memorial Hospital,
may be involved, or there may be asymmetric tone of spinal Chicago, IL.)

LWBK836_Ch109_p1149-1178.indd 1176 9/1/11 7:52:49 PM

 Chapter 109 Congenital Intraspinal Anomalies: Spinal DysraphismEmbryology, Pathology, and Treatment
LONG-TERM CARE
One common approach to managing the long-term care of
spinal dysraphism patients has been the multidisciplinary
clinic because no one physician can manage the various prob-
lems that these patients encounter. A review of patients
released from a multidisciplinary clinic highlight the care
problems. Although the individual medical services contin-
ued to be available to these patients, the majority filed to have
both regular and specialty care follow-up. The lack of follow-
up was unrelated to method of payment or distance from the
hospital, but was related to age of the patient. These patients
suffered from potentially preventable morbidity, as compared
with patients actively followed up in a multidisciplinary clinic.
In one large series of patients with retethering, those followed
up by such a multidisciplinary clinic were seen an average of
3 months after the onset of symptoms, whereas those referred
from outside physicians had an average delay in diagnosis of
11 months. Of the patients who had been followed up in the
multidisciplinary clinic, 82% improved, compared with only
54% of the referred patients. Care is more easily provided in
the setting of a multidisciplinary clinic devoted to patients
with spinal dysraphism, and these studies show evidence of
improved outcomes.
SUMMARY
This chapter has briefly reviewed a wide range of congenital
malformations and their presentation. It is clear that concepts
regarding the symptoms and progression of spinal dysraphic
states have evolved in recent years. The need for a more
aggressive (i.e., surgical) approach seems clear, not only at
the initial presentation of these patients but also during the
lifelong follow-up that they require. It is also clear that the
patients with previously repaired spinal dysraphism require
close and continued follow-up. Their care should be coordi-
nated between services because the manifestations of spinal
cord pathology are varied. Any neurologic decline should not
be considered an inevitable part of the natural history and a
cause should be actively sought and actively treated. When the
embryologic origins of these entities are considered, the anat-
omy and the approach to surgical correction are more easily
understood. Careful microsurgical techniques, combined
with an appreciation for these conditions gained from experi-
ence, result in minimal treatment morbidity and gratifying
results.
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