Background

Spina bifida is a treatable spinal cord malformation that occurs in varying

degrees of severity. Classified as a defect of the neural tube (ie, the
embryonic structure that develops into the spinal cord and brain), it was
recognized as long as 4000 years ago. The term myelodysplasia has been
used as a synonym for spina bifida. (See Pathophysiology and Etiology.)
Neural tube defects have a range of presentations, from stillbirth to
incidental radiographic findings of spina bifida occulta. Myelomeningocele,
a form of spina bifida, is visible at birth (see the images below). Patients
with myelomeningocele present with a spectrum of impairments, but the
primary functional deficits are lower limb paralysis and sensory loss,
bladder and bowel dysfunction, and cognitive dysfunction. (See Clinical
Presentation.) [1]

The lumbar region of a

newborn baby with myelomeningocele. The skin is intact, and the placode-
containing remnants of nervous tissue can be observed in the center of the
lesion, which is filled with cerebrospinal fluid.
View Media Gallery

Myelomeningocele in a
newborn.
View Media Gallery
Blood tests, amniocentesis, or both can be used to screen for neural tube
defects. These typically are used in combination with fetal ultrasonography.
(See Workup.) Prenatal detection and postatal closure in the first few days
of life are clinically associated with lower levels of care and fewer
complications in spina bifida. [49]
Treatment advances have allowed an increasing number of patients with
neural tube defects to participate and be productive in mainstream society.
However, medical, surgical, and rehabilitation issues arise in the patient
with myelomeningocele, from birth through adulthood. [2](See Treatment
and Medication.)
The need for a team approach is recognized in contemporary treatment of
spina bifida. [48] Bringing together a number of medical and surgical
specialists can help to spare parents the strain and exhaustion of
coordinating with multiple doctors and can ensure the availability of
necessary services. Transitioning from pediatric to adult care has been
reported to maintain quality-of-life measures. [50] The physical medicine and
rehabilitation specialist assumes a significant role in coordinating the many
treatment components that together allow patients to gain maximum
function and, particularly, independence. (See Treatment.)
Participation in the care of patients with major, chronic physical disabilities
requires commitment, coordination, and access to extensive clinical
resources. Improved survival rates in patients with spina bifida can be
expected with treatment; quality of life is at least partially dependent on the
speed, efficiency, and comprehensiveness of that treatment from birth.
(See Prognosis.)
Classification
Spina bifida is a variable defect in which the vertebral arch of the spinal
column is either incompletely formed or absent. The term bifida is from the
Latin bifidus, or "left in 2 parts." Although the condition has also been
referred to as myelodysplasia and myelomeningocele, spina bifida
generally has been accepted as the preferred term, specifically by the
American Academy of Orthopaedic Surgeons. Rachischisis posterior, the
equivalent Greek term, is derived from rachis, meaning spine, and schisis,
meaning division (spondyloschisis in Latin).
Spina bifida cystica
Spina bifida cystica can occur anywhere along the spinal axis but most
commonly is found in the lumbar region. In this condition, the spine is bifid
and a cyst forms. A meningocele, a cystic swelling of the dura and
arachnoid, protrudes through the spina bifida defect in the vertebral arch. A
person with a meningocele may have no neurologic sequelae.
Spina bifida cystica causes a problem when cord tissue extends into the
meningocele, in which case the cyst is called a myelomeningocele.
According to Menelaus, the myelomeningocele form of spina bifida cystica
is the most significant and common type of spina bifida, accounting for 94%
of cases. (Spina bifida occulta is not included in this figure.)
A child born with myelomeningocele requires specialty care and transfer to
a center where neonatal surgery and closure can be performed. Surgery
involves freeing lateral muscles and skin for coverage and attempting to
form a closure of the neural elements with minimal scarring, because the
late complication of a tethered cord has frequent and severe
consequences.
Another form of spina bifida cystica, the most severe type in fact, is the
myelocele, or myeloschisis, variety, in which the open neural plate is
covered secondarily by epithelium and the neural plate has spread out onto
the surface.
Spina bifida occulta
The term spina bifida does not actually refer to spina bifida occulta, which
may exist in a very large number of healthy adults. Some contend that it
could be found in up to one third of healthy adults if imaging studies were
used to analyze the posterior vertebral arch.
Syringomeningocele
Syringomeningocele is another form of spina bifida. The Greek
word syrinx, meaning tube or plate, is combined with meninx (membrane)
and kele (tumor). The term thus describes a hollow center, with the spinal
fluid connecting with the central canal of the cord enclosed by a membrane
with very little cord substance.
Syringomyelocele and syringomyelia
Syringomyelocele is a type of spina bifida in which protrusion of the
membranes and spinal cord lead to increased fluid in the central canal,
attenuating the cord tissue against a thin-walled sac. Syringomyelia, or
hydrosyringomyelia, is the presence of cavities in the spinal cord, which
may result from the breakdown of gliomatous new formations.

Pathophysiology
Neural tube defects are the result of a teratogenic process that causes
failed closure and abnormal differentiation of the embryonic neural tube.
Neural tube defects occur between the 17th and 30th day of gestation, at a
time when the mother may not be aware that she is pregnant and the fetus
is estimated to be about the size of a grain of rice.
The most common neural tube defects are anencephaly and
myelomeningocele. Anencephaly results from failed closure of the rostral
end of the neural tube, resulting in incomplete formation of the brain and
skull.
Myelomeningocele
Spina bifida cystica causes a problem when the meningeal cyst
(meningocele) includes cord tissue extending into the cyst (in which case, it
is a myelomeningocele). The condition is also of particular concern when
the neural tube is completely open and the ependymal layer is exposed as
a myelocele (or myeloschisis). A meningocele alone may cause no
neurologic problems if the cord is confined to the vertebral canal.
Myelomeningocele results from failed closure of the caudal end of the
neural tube, resulting in an open lesion or sac that contains dysplastic
spinal cord, nerve roots, meninges, vertebral bodies, and skin (see the
image below). The anatomic level of the myelomeningocele sac roughly
correlates with the patient's neurologic, motor, and sensory deficits. [3]

Myelomeningocele in a
newborn.
View Media Gallery
Myelomeningocele is associated with abnormal development of the cranial
neural tube, which results in several characteristic CNS anomalies.
The Chiari type II malformation is characterized by cerebellar hypoplasia
and varying degrees of caudal displacement of the lower brainstem into the
upper cervical canal through the foramen magnum. This deformity impedes
the flow and absorption of cerebrospinal fluid (CSF) and
causes hydrocephalus, which occurs in more than 90% of infants with
myelomeningocele. (See the image below.)
 Coronal, T1-weighted
magnetic resonance imaging (MRI) scans of the brain show a Chiari II
malformation. Note the stretching of the brainstem, aqueduct, and fourth
ventricle.
View Media Gallery
Cerebral cortex dysplasia, including heterotopias, polymicrogyria, abnormal
lamination, fused thalami, and corpus callosum abnormalities, also occurs
frequently. In addition, mesodermal structures surrounding the neural tube,
such as the vertebra and ribs, may be malformed.
Unprotected neural elements are at severe risk during delivery. The
sequelae of the neural tube defect follow directly from this lack of
protection, occurring mechanically or resulting from desiccation, scarring
with closure, and/or a lack of vascular support or from other insults to the
delicate neural elements.
The neurologic damage generally results in a neurogenic bowel and
bladder, which leads to incontinence. With a lack of neural input, a
contracted bladder causes hydronephrosis, along with infections and renal
failure, which may be the prime determinant of longevity in patients with
spina bifida.
As a pattern, neurologic innervation is not symmetrical between lower-limb
flexors and extensors; the corresponding levels are lower (caudal) for the
extensors than for the flexors. Generally, muscular imbalance is present in
patients with myelomeningocele, which results in joint contractures and
developmental problems, such as hip dislocation and spinal deformities.
Normal intelligence can be expected with aggressive shunting for
hydrocephalus, although seizure activity secondary to the neural tube
defect may be noted. In addition, subtle defects in coordination may be
associated with the cerebellar deficiency from the Arnold-Chiari
malformation, which is a malformation of the cerebellum, with elongation of
the cerebellar tonsils and with the cerebellum drawn into the fourth
ventricle. The condition also is characterized by smallness of the medulla
and pons and by internal hydrocephalus. In fact, all patients with spina
bifida cystica (failure to close caudally) have some form of Arnold-Chiari
malformation (failure to close cranially).
Myelomeningocele often occurs along with multiple system congenital
anomalies. Commonly associated anomalies are facial clefts, heart
malformations, and genitourinary tract anomalies. Urinary tract anomalies,
such as solitary kidney or malformed ureters, may contribute to increased
morbidity in the presence of neurogenic bladder dysfunction.
Embryology
During prenatal development, neuroectoderm thickens into the neural plate,
which then folds into a neural groove by the time somites appear. The
groove deepens to become the neural tube, and dorsal fusion begins
centrally, extending cephalad and caudally, with the cephalad pole fusing at
the 25th day. The ventricle becomes permeable at the 6th to 8th week of
gestation but this apparently does not proceed normally in patients with
myelomeningocele.
Some studies suggest that an increased amount of neural crest material in
the defect prevents neural tube closure. Another hypothesis is that an
already closed tube ruptures; increased permeability of the rhombic groove
leads to greater CSF secretion and increased luminal pressure, with the
tube then expanding and essentially splitting the neural element at its
weakest areas (ie, the cephalic and caudal ends).
Research by McLone and Knepper supports the latter hypothesis and
details the implications of this defect on the entire CNS. [4]
Obesity
Obesity is prevalent in children with myelomeningocele, especially those
with high-lumbar and thoracic-level lesions, because of reduced capacity
for caloric expenditure. The decreased muscle mass of the lower body
musculature results in a lower basal metabolic rate. In addition, activity
levels generally are lower than in unaffected children as a direct result of
lesion-related mobility deficits and as an indirect result of decreased
opportunities for disabled children to participate in physical play.
Obesity can exert negative impact on self-image and further perpetuate a
cycle of inactivity and overeating. Excessive weight impedes maximal
independence and ambulation.
Bone involvement
Bone mineral density is decreased in patients with
[5]
myelomeningocele. Markers of bone reabsorption have been found more
frequently in limited ambulators and nonambulators than in children who
ambulate regularly.
Children with myelomeningocele are at higher risk of lower extremity
fractures. Reduced muscle activity in the paralyzed limb and decreased
weight-bearing forces result in decreased bone mass. In addition, many
fractures occur after orthopedic interventions, especially after procedures
associated with cast immobilization. Fractures in myelomeningocele tend to
heal quickly, and excessive callus formation often is seen.
Urinary tract dysfunction
The main determinant of upper urinary tract deterioration is the intravesical
pressure in storage and voiding situations. A high incidence of
vesicoureteral reflux and ureteral dilation has been found in patients with
myelomeningocele whose leak-point pressures are greater than 40 cm
water.
High pressures may result from increased outlet resistance or decreased
bladder wall compliance. Increased outlet resistance may be caused by
sphincter dyssynergia or fibrosis of a denervated sphincter. Decreased
bladder wall compliance is associated with areflexia of the detrusor. Any of
these urologic dysfunctions can occur in myelomeningocele, but
manifestations may vary over time because of the changing neurologic
status in some of these patients.
Abnormalities in sexual development and function
Females with myelomeningocele go through puberty 1-2 years earlier than
their unaffected peers. Sexual precocity is associated with hydrocephalus
and obesity. Abnormal genital sensation is typical, but some female
patients with myelomeningocele are able to achieve orgasm. Fertility is not
affected in females with myelomeningocele; however, pregnancy carries
increased risk of urinary tract infection, back pain, and perineal prolapse
postpartum.
Young men with myelomeningocele have abnormal genital sensation,
decreased ability to achieve and sustain erections, and decreased fertility.
However, the potential for ejaculation and reproduction must be assessed
for each individual patient. Implantable penile prosthetic devices, vacuum
tumescence devices, and electrical stimulation have been used for some
patients unable to achieve erections.
Latex sensitization
Latex sensitization is more common in patients with myelomeningocele,
likely due to a genetic predisposition and a higher degree of exposure. The
number of surgical interventions (particularly orthopedic and urologic
procedures), the presence of a ventriculoperitoneal shunt, and total serum
immunoglobulin E (IgE) levels have been associated with latex allergy in
children with myelomeningocele. Establishment of a latex-free environment
for surgery, however, has resulted in a decrease in sensitization of these
patients to latex.
Etiology
, is key. Cytoplasmic factors, polygenic inheritance, chromosomal
aberrations, and environmental influences (eg, teratogens) have all been
considered as possible causes. A small number of cases are linked to
specific etiologic factors.
Most infants born with myelomeningocele are born to mothers with no
previously affected children. However, other offspring in a family with 1
affected child are at greater risk for neural tube defect than are children
without affected siblings. The risk is 1 in 20-30 for subsequent pregnancies,
and if 2 children are affected, the risk becomes 1 in 2. An increase in the
risk of myelomeningocele has also been reported for second- and third-
degree relatives of affected individuals.
Up to 10% of fetuses with a neural tube defect detected in early gestation
have an associated chromosome abnormality. Associated chromosome
abnormalities include trisomies 13 and 18, triploidy, and single-gene
mutations.
In women with pregestational diabetes, the risk of having a child with a
CNS malformation, including myelomeningocele, is 2-10 fold higher than
the risk in the general population. The mechanism underlying this
teratogenic effect is not well defined but is related to the degree of maternal
metabolic control. The risk in women who develop gestational diabetes is
lower than the risk in women with pregestational diabetes, but it might not
be as low as in the general population.
Other risk factors for myelomeningocele include maternal obesity,
hyperthermia (as a result of maternal fever or febrile illness or the use of
saunas, hot tubs, or tanning beds), and maternal diarrhea. Identified risk
factors also include intrauterine exposure to antiepileptic drugs, particularly
valproate and carbamazepine, and to drugs used to induce ovulation. [6, 7, 8]
The risk of having a child with myelomeningocele has also possibly been
associated with maternal exposures to fumonisins, electromagnetic fields,
hazardous waste sites, disinfection by-products found in drinking water,
and pesticides.
Folic acid deficiency
Research in the 1980s showed correction of folic acid deficiency as an
effective means of primary and recurrent prevention. [9] At least half of
cases of neural tube defects are related to a nutritional deficiency of folic
acid or increased requirement and, thus, are potentially preventable. (An
elevated risk of neural tube defects has also been linked to higher levels of
folate receptor autoimmunity, in a dose-response manner. [51] )
In September 1992, the US Public Health Service (USPHS) recommended
intake of folic acid at a dosage of 0.4 mg (400 mcg) per day for all women
anticipating pregnancy. (Currently, the US Centers for Disease Control and
Prevention [CDC] also recommends 400 mcg/day, while the US Preventive
Services Task Force recommends 400-800 mcg/day.) In January 1998, the
mandatory fortification of enriched cereal grain products with folic acid went
into effect in the United States; this measure that was expected to increase
the daily intake of folic acid in women of reproductive age by approximately
100 mcg/day.
According to the CDC, the prevalence of spina bifida from October 1995 to
December 1996 (before mandatory fortification) was 2.62 per 10,000 live
births, while the prevalence from October 1998 to December 1999 was
2.02 per 10,000 live births, a 22.9% reduction. Later declines were smaller,
however, with the prevalence of spina bifida falling just 6.9% between the
surveillance periods 1999-2000 and 2003-2005; for reasons that remain
unclear, this included a significant decrease in prevalence within the black
population but not within the white and Hispanic populations.

Occurrence in the United States

The incidence of spina bifida has been estimated at 1-2 cases per 1000 population,
with certain populations having a significantly greater incidence based on genetic
predilection. Folate fortification of enriched grain products has been mandatory in the
United States since 1998; research indicates that folate can reduce the incidence of
neural tube defects by about 70% and can also decrease the severity of these
defects when they occur. [8, 11, 12, 13]
Neural tube defects are the second most common type of birth defect after
congenital heart defects, and myelomeningocele is the most common form of neural
tube defect. In the United States, approximately 1500 infants are born with
myelomeningocele each year.
Birth incidence of the disease was reported to be 4.4-4.6 cases per 10,000 live births
from 1983-1990. Rates varied by region, with the incidence being higher on the East
Coast than on the West Coast and with the highest rates occurring in Appalachia.
The rate of myelomeningocele and other neural tube defects has declined since the
late 20th century. This is attributed to the widespread availability of prenatal
diagnostic services and to improved nutrition among pregnant women.

International occurrence
The average worldwide incidence of spina bifida is 1 case per 1000 births, but
marked geographic variations occur. Neural tube defects occur at frequencies (per
10,000 births) ranging from 0.9 in Canada and 0.7 in central France to 7.7 in the
United Arab Emirates and 11.7 in South America.
The highest rates of spina bifida are found in parts of the British Isles, mainly Ireland
and Wales, where 3-4 cases of myelomeningocele per 1000 population have been
reported, along with more than 6 cases of anencephaly (both live births and
stillbirths) per 1000 population. The reported overall incidence of myelomeningocele
in the British Isles is 2-3.5 cases per 1000 births.
In France, Norway, Hungary, Czechoslovakia, Yugoslavia, and Japan, a low
prevalence is reported, being just 0.1-0.6 cases per 1000 live births.
Low socioeconomic status is associated with higher risk of neural tube defects in
many populations. Since approximately 1940, epidemics of myelomeningocele have
occurred in Boston, Mass; Rochester, NY; Dublin, Ireland; The People's Republic of
China; and Jamaica. [14]

Race-related demographics
According to the CDC, the prevalence of spina bifida in the United States is higher in
the white and Hispanic populations (2 and 1.96, respectively, per 10,000 live births)
than in the black population (1.74 per 10,000 live births). [15,16, 17, 10]

Sex-related demographics
Data from state and national surveillance systems from 1983-1990 found the birth
prevalence rate of myelomeningocele to be slightly higher in females than in males
(1.2:1). A higher proportion of females than males exhibit thoracic-level
malformations.

Prognosis
Studies of children with prenatally diagnosed myelomeningocele suggest
that less severe ventriculomegaly and a lower anatomic level of lesion on
prenatal ultrasonograms predict better developmental outcomes in
childhood. Aggressive treatment with closure in the neonatal period leads
to survival in most cases of spina bifida.
Cognitive function
As a group, patients with myelomeningocele have intelligence scores below
the population average but within the normal range. Cognitive dysfunction
is most strongly correlated with the presence of hydrocephalus, along with
hydrocephalus-related illness parameters (ie, the necessity of shunting,
number of shunt revisions, shunt infections, and additional structural
abnormalities of the CNS). [18]
Aggressive shunting of hydrocephalus can permit the retention of near-
normal intelligence in the majority of patients. Children who do not require
shunt revisions are more likely to be employed, live independently, and
drive as adults. [19]
Cognitive function has also been related to the level of the lesion. Upper-
level lesions have been associated with a higher frequency of mental
retardation and lower scores on measures of intelligence, academic skills,
and adaptive behavior.
Children with myelomeningocele tend to demonstrate generalized deficits
in visual memory and auditory/verbal memory. Verbal subtest scores
usually exceed performance subtest scores, with visual-spatial
organizational deficits that may be explained in part by upper limb
discoordination and/or memory deficits.
The term "cocktail personality" has been applied to a subgroup of patients
with hydrocephalus who appear to have advanced expressive language
skills. The speech of these individuals typically is verbose, but it tends to
lack content and contains jargon and many clichés. This pattern often is
associated with poor comprehension skills and reflects significant cognitive
impairments and functional deficits.
Approximately 75% of children with myelomeningocele have an IQ higher
than 80. Among those whose intelligence is normal, 60% are learning
disabled, with the most common feature being a nonverbal learning
disability. Particular deficits are seen in mathematics, sequencing, visual
perceptual skills, and problem solving. Prevalence of attention problems
has been estimated to be 30-40%.
Ambulation
The ability to ambulate depends on, and directly correlates with, the
functional sensorimotor level. The patient’s motor level is difficult to assess
in the neonate, but the sensory level in infancy is easier to evaluate.
Children with sensory levels below L3 are more likely to ambulate as adults
and are less likely to have pressure sores or need daily care. [19, 20, 21, 22]
Studies have shown that approximately 50-60% of young adult patients
ambulate household or community distances, with about 20% of these
patients using some orthotic or assistive device. The other 50% of patients
use wheelchairs as their primary form of mobility. Approximately 20% of
these individuals ambulate with orthotics and assistive devices as a form of
therapeutic exercise. [23]
Several studies have shown that ambulation in patients with
myelomeningocele is related to the strength of certain key muscles,
including the iliopsoas, gluteus medius, hamstrings, and/or quadriceps.
Specifically, a motor neurologic level of L5 or quadriceps strength graded
as good (4 out of 5) in the first 3 years of life is predictive of a good
prognosis for community ambulation. Gluteus medius strength was the best
predictor of a need for gait aids and orthoses. In a 25-year follow-up study
of young adults with myelomeningocele, no patient with a lesion at L3 or
above ambulated a majority of the time. [24]
Maximal ability to ambulate usually is achieved by the time the child
reaches age 8-9 years. Studies have shown that a majority of
preadolescent patients, even those with higher-level lesions, are
community ambulators when they receive aggressive multidisciplinary
interventions. After adolescence, however, community ambulation
decreases to approximately 50%.
The ability to ambulate tends to decline in the second decade of life
because of increased body dimensions and higher energy requirements.
Lower-extremity muscle deterioration also may play a role. Functional
decline with aging in patients with myelomeningocele also can be
exacerbated by obesity, decubitus ulcers, and psychological issues.
For example, a retrospective study by Dicianno et al found that depressive
symptoms in adult patients with spina bifida were significantly associated
with lower mobility scores on the Craig Handicap Assessment and
Reporting Technique-Short Form (CHART-SF). The study, of 190 adults
with spina bifida, also suggested that depressive symptomatology was
common in this cohort, determining that 49 of the patients (25.8%) had
Beck Depression Inventory-II (BDI-II) scores of over 14 and that 69 patients
(36.3%) were taking antidepressants for the treatment of depressive
symptoms. [25]
Activities of daily living
Except for sphincter control, independence in activities of daily living (ADL)
is likely for children born with myelomeningocele without hydrocephalus.
Similarly, for children born with myelomeningocele and hydrocephalus,
those with a level of lesion of L4/5 (quadriceps grade of good) or below are
likely to be independent for almost all ADL except sphincter control. Those
with higher-level lesions are at significant risk for dependence in ADL.
Continence
The data on continence from the literature is variable, which in part reflects
inconsistencies in the definition of social continence. Studies report 40-85%
achievement of bladder continence and 50-85% achievement of bowel
continence. Approximately 25% of patients are continent of both bowel and
bladder. The likelihood of social continence improves when training is
instituted before age 7 years. The psychosocial consequence of bowel and
bladder incontinence can have a dramatic impact on children with
myelomeningocele, especially in adolescence.
Employment, independence, and quality of life
Studies of adults with myelomeningocele have shown that about 20-30%
secure gainful employment. In one study, employment status was related to
lesion level and motor independence. However, motor independence was
not found to be related to self-reported quality of life or range of life
experiences. [26]
Several studies have shown a greater number of shunt revisions to be
associated with reduced independence and achievement in
adulthood.[27] This suggests that close medical management in order to
minimize episodes of increased intracranial pressure may improve adult
employment and quality of life.
Perceived family environment may explain different levels of participation of
patients with myelomeningocele in employment, community mobility, and
social activity as an adult, even beyond what can be explained by lesion
level and intelligence. A positive correlation exists between perceived
family encouragement of independence and outcomes in young adults with
myelomeningocele.
Complications
Neurologic complications
Neurologic complications in patients with myelomeningocele are related to
a variety of CNS and spinal cord pathologies. Approximately 25-35% or
more of children with myelomeningocele are born with hydrocephalus, and
an additional 60-70% of patients with myelomeningocele develop
hydrocephalus after closure of the myelomeningocele lesion.
Hydrocephalus can cause expansion of the ventricles and loss of cerebral
cortex and is associated with an increased risk of cognitive impairment.
Seizures occur in 10-30% of affected children and adolescents. These can
be related to brain malformation, or they may be a sign of shunt
malfunction or infection.
The Chiari type II malformation is present anatomically in almost all
patients with myelomeningocele and can result in hindbrain and/or upper
cervical spinal cord dysfunction. Clinical manifestations of the Chiari II
malformation are more common during infancy and, overall, are seen in 20-
30% of affected children. However, symptoms can develop at any age and
can manifest acutely or chronically.
Urologic complications
Myelomeningocele is the most common cause of neurogenic bladder
dysfunction in children. The nature of the urinary tract dysfunction in
myelomeningocele depends on the level and extent of the spinal cord
lesion.
Disruption of the neural axis between the pons and the sacral spinal cord
by the myelomeningocele may cause uninhibited detrusor contractions or
dyssynergia, a lack of coordination of the external bladder sphincter that
causes involuntary sphincter activity during detrusor contraction.
Myelomeningocele in the sacral area can produce a lower motor neuron
lesion, resulting in detrusor areflexia.
These abnormalities may occur singly or in combination and typically result
in incontinence and impaired bladder emptying that can lead to
vesicoureteral reflux and high voiding pressures.[28] If untreated, such
dysfunction can lead to potentially more serious complications, including
frequent infections, upper urinary tract deterioration, and, ultimately, renal
failure.
Skin breakdown
Skin breakdown occurs in 85-95% of children with myelomeningocele
before young adulthood, and recurrent decubitus ulcers can lead to
prolonged morbidity and functional disability. Healing can occur if the
precipitating mechanical factors are eliminated. Plastic surgical correction
may be necessary in severe cases and may involve orthopedic correction
of underlying postural abnormalities.
The sites and causes of skin breakdown vary by age and lesion level. Skin
breakdown on the lower limb occurs in 30-50% of cases in all lesion-level
groups.
The most common areas of breakdown in the thoracic-level group are the
perineum and above the apex of the kyphotic curve. Overall, tissue
ischemia from pressure necrosis is the most common etiology.
Older children may have higher risk of skin breakdown, because of
increased pressure of a larger body habitus, asymmetrical weight-bearing
from acquired musculoskeletal deformities, and lower limb vascular
insufficiency or venous stasis.
Frequent causes of skin breakdown that are more prevalent in younger
children include casts or orthotic devices, skin maceration from urine and
stool soiling, friction, shear, and burns.
Ulcers from bracing are prominent in the lower extremities, in the pelvis,
and, particularly, over the bony prominences as a result of sitting. Carefully
inspecting the skin on a routine basis is important because the area may be
subjected to pressure for a couple of hours. The skin subsequently may be
reddened, and although the patient may have no pain, the skin can develop
significant full-thickness problems after only a brief period of neglect.
Mortality
In general, survival and degree of neurologic impairment depend on the
level of the spinal segment involved, the severity of the lesion, and the
extent of associated abnormalities.
The mortality rate for infants with myelomeningocele is increased over the
general population risk in the first year of the life. Mortality rates reported
for untreated infants range from 90-100%, based on several studies dating
from the turn of the century through recent years. Most untreated infants
die within the first year of life. Death in the first 2 years of life for those
untreated usually results from hydrocephalus or intracranial infection. An
infant aged 2 months with untreated myelomeningocele has only a 28%
likelihood of living 7 years. [29]
Survival rates for infants born with myelomeningocele have improved
dramatically with the introduction of antibiotics and developments in the
neurosurgical treatment of hydrocephalus. Early death in treated and
untreated patients is associated with advanced hydrocephalus and multiple
system congenital anomalies.
Renal compromise occurs because of problems related to neurogenic
bladder. Despite advances in the management of neurogenic bladder, renal
failure is still the leading cause of death in patients with myelomeningocele
after the first year of life.
Longevity may depend on the careful use of clean intermittent
catheterization and compliance with a bowel and bladder regimen. Long-
term survival into adulthood and advanced age is now common with
aggressive treatment and an interdisciplinary clinical approach. With proper
urologic management, more than 95% of children with myelomeningocele
continue to have normal renal function. In addition, bladder augmentation
has been reported to have a positive impact on urologic infections and
mortality in spina bifida.

Patient Education
Institute measures to avoid development of soft tissue contractures in the
neonatal period. Physical and/or occupational therapists provide caregivers
with instruction in handling and positioning techniques. In the first several
years of life, recommend incorporation of stretching and strengthening
exercises into a home program performed by the caregivers and later into
play and physical education activities at school.
Instruct preschool and school-aged children with myelomeningocele in the
use of adaptive equipment and alternative methods for self-care and
performance of ADL. To become independent by school age, young
children with myelomeningocele need to become active participants in skin
care, bowel and bladder management, and donning and doffing of
orthotics, in addition to traditional ADL tasks such as feeding and dressing.
Acquisition of ADL skills often is influenced by attitudes and expectations,
so the multidisciplinary team members need to emphasize carryover of
ADL skills in the home and school environments by providing anticipatory
guidance to parents and caregivers.
Strategies for prevention of skin breakdown first are directed at parents and
caregivers, but children with myelomeningocele should be encouraged
from an early age to take responsibility for their own skin care. Parents
must first be made aware of the areas of abnormal sensation. Necessary
precautions include daily skin inspections, pressure relief, avoidance of
exposure to extreme temperatures and harmful surfaces, and frequent
monitoring of shoes and orthotics.
Self-catheterization techniques should be introduced during the later
preschool years to promote normal progress toward independence.
Mastery of self-catheterization in patients with myelomeningocele usually is
achieved by age 6-8 years, depending on the severity of cognitive and
motor involvement.
A functional environment should be created for the patient at home and
school to facilitate efficient independent functioning.
A study by Vaccha and Adams indicated that family environment can
influence language skills in children with myelomeningocele. [30] The
investigators studied 75 children with myelomeningocele, aged 7-16 years,
along with 35 age-matched controls, and found a positive association
between language performance in children with myelomeningocele and a
focus on intellectually and culturally enhancing activities by their families.
Sex education
Sex education and counseling should begin early to help adolescents with
myelomeningocele make a positive adjustment to adolescence and to help
them avoid misinformation. Sex education, including accurate information
about safe sex, should be included in the routine health-care maintenance
of the older child and adolescent with myelomeningocele.
Studies of young people with myelomeningocele have shown that, although
many are involved in intimate relationships, most had inadequate
knowledge about sexuality and reproductive health issues related to their
condition. A report indicated that young people with spina bifida face
difficulties in obtaining answers to questions concerning
romantic relationships, fertility, and sexuality and encouraged medical
providers to educate these patients with regard to sexual health. [52, 54]
For patient education information, see the Brain and Nervous System
Center, as well as Spina Bifida and Bladder Control Problems.

History
Myelomeningocele is diagnosed at birth or in utero. At birth, a midline
defect in the posterior elements of the vertebrae is noted with protrusion of
the meninges and neural elements through an external dural sac.
Although spina bifida occulta is common and almost always without
consequence, some developmental abnormalities may occur—such as a
spinal cord lipoma or a fibrous cord—that can cause subtle or rare
neurologic signs.
A fibrous cord may extend from an interdural component of one of these
developmental abnormalities to the skin, producing a dimple, an area of
pigmentation, or a hairy patch at the base of the spine; such symptoms can
be noted on physical examination.
Patients with a fibrous cord may have problems with micturition, or they
may have subtle neurologic signs, such as a foot deformity (most
commonly, a cavus foot). A prompt and thorough investigation is
mandatory for any progressive neurologic signs. When a lipoma is present,
there may be a lipomeningocele, a lipomyelomeningocele, or a
lipomyelocele. These may be associated with areas of fluid in the cord,
which may be a syringomyelia.
In general, infants with spina bifida cystica present with the following:
 Lethargy
 Poor feeding
 Irritability
 Stridor
 Ocular motor incoordination
 Development delay
Older children may present with the following:
 Cognitive or behavioral changes
 Decreased strength
 Increased spasticity
 Changes in bowel or bladder function
 Lower cranial nerve dysfunction
 Back pain
  Worsening spinal or lower extremity orthopedic deformities
Some patients, however, may present with only papilledema. In any patient
with myelomeningocele who presents with deterioration in neurologic,
orthopedic, or urologic function, uncontrolled hydrocephalus should be
excluded as a cause before any other treatment is pursued.
Chiari type II malformation
The Chiari type II malformation may cause acute or subacute signs and
symptoms of lower brainstem and/or upper cervical spinal cord
compression, including the following:
 Laryngeal and pharyngeal paralysis
 Apnea
 Swallowing difficulty
 Respiratory stridor
 Nystagmus
 Upper extremity weakness
These problems rarely are severe. A varying degree of interference with
cerebellar function seems to occur, particularly with balance and
coordination, which has a significant influence on ambulation, the results of
physical therapy, and overall orthopedic care.
Coordination and cognitive function
Failure to control a seizure disorder, recurrence of hydrocephalus, or even
low pressure hydrocephalus can cause subtle coordination defects and
interruption of some cognitive functions.
Tethered spinal cord
The tethered spinal cord may be signaled by foot deformities that
previously braced easily, new onset of hip dislocation, or worsening of a
spinal deformity, particularly scoliosis. Progressive neurologic defects in
growing children may suggest a lack of extensibility of the spine or indicate
that the spine is tethered and low-lying in the lumbar canal, with the
potential for progressive, irreversible neurologic damage that requires
surgical release.

Physical Examination
The most obvious finding on physical examination is some degree of motor
and sensory loss. [1] Neurologic impairment is classified by traditional
neurosegmental levels based on the clinically determined strength of
specific muscle groups. The functional motor level does not always
correspond to the anatomic level of the lesion.
In addition, it is important to realize that the motor paresis may be
asymmetrical, that it may not correspond to the sensory level, and that it
may result from a combination of upper and lower motor neuron lesions.
Serial measurements and accurate documentation of the functional level of
the lesion allow for early detection of progressive neurologic deterioration
related to a variety of associated CNS problems.
In addition to determining the functional neurosegmental level, it is
important to distinguish the type of paralysis, either spastic or flaccid. Most
patients with myelomeningocele have a flaccid paraparesis below the
spinal cord lesion.
An estimated 10-25% of patients have been reported to have a spastic
paraparesis. This presentation is presumably related to an intact, but
isolated, segment of cord distal to the lesion. Spastic paraparesis has been
associated with a poorer prognosis for walking and higher rates of
orthopedic procedures.
Neurosegmental levels and musculoskeletal complications
For the sake of general functional prognosis and anticipation of specific
musculoskeletal complications, myelomeningocele patients frequently are
classified as belonging to one of the following groups, based on the
neurosegmental level of the lesion:
 Thoracic
 High lumbar
 Low lumbar
 Sacral
Thoracic
In the thoracic group, innervation of the upper limb and neck musculature
and variable function of trunk musculature are present, with no volitional
lower limb movements. Patients with thoracic malformations tend to have
more involvement of the CNS and associated cognitive deficits.
High lumbar
In the high-lumbar group, variable hip flexor and hip adductor strength is
characteristic. Absence of hip extension, hip abduction, and all knee and
ankle movements is noted.
Low lumbar
In the low-lumbar group, hip flexor, adductor, medial hamstring, and
quadriceps strength is present. The strength of the lateral hamstrings, hip
abductors, and ankle dorsiflexors is variable; the strength of the ankle
plantar flexors is absent.
Sacral
In the sacral-level group, strength of all hip and knee groups is present.
Ankle plantar flexor strength is variable.
Complications of hydrocephalus
Involvement of the upper extremities is also common. Spasticity in the
upper extremities occurs in approximately 20% of patients with
myelomeningocele. It has been related to the number of shunts required to
control hydrocephalus and has been shown to adversely affect
independence in activities of daily living (ADL).
In patients with hydrocephalus, lack of upper extremity coordination is also
seen. This lack of coordination also may be related to Chiari II
malformation, motor-learning deficits, and/or delayed development of hand
dominance. Affected children have problems with fine motor tasks,
particularly when timed. New-onset weakness or spasticity in the upper
extremities may be a hallmark of progressive neurologic dysfunction.
Spinal and lower extremity deformities
Spinal and lower extremity deformities and joint contractures are prevalent
in children with myelomeningocele. Multiple factors may be involved,
including intrauterine positioning, other congenital malformations, muscle
imbalances, progressive neurologic dysfunction, poor postural habits, and
reduced or absent joint motion.
Spinal deformities may be congenital or acquired. Vertebrae and rib
anomalies are associated with congenital or early development of severe
kyphotic and scoliotic deformities. Acquired scoliosis is neuromuscular in
origin and is related to muscle imbalances. [31] Increased lumbar lordosis
and kyphosis of the entire spine or localized to the lumbar region are also
observed. All of the spinal deformities occur more frequently in groups with
higher spinal lesions.
Thoracic and high-lumbar lesions
The lower extremity deformities that occur are related to the functional level
of the lesion. Thoracic and high-lumbar groups tend to have increased
prevalences of the following:
 Lumbar lordosis
 Hip abduction and external rotation contractures
 Knee flexion
 Equinus contractures of the ankles
Unopposed hip flexion and adduction contractures in the high-lumbar group
frequently result in dislocated hips.
Mid- and low-lumbar lesions
The mid- and low-lumbar groups often have the following deformities:
 Hip and knee flexion contractures
 Increased lumbar lordosis
 Genu valgus and calcaneal valgus malalignment
 Overpronated feet
Sacral lesions
Patients in the sacral group often exhibit mild hip and knee flexion
contractures and increased lumbar lordosis with various ankle and foot
positions.
Stature
Children with myelomeningocele are often short in stature. This has been
related to multiple factors, including the following:
 Structural issues (eg, abnormalities of the spinal column and lower
limb contractures)
 Functional spinal level: This influences the amount of neurotrophic
input from the lower extremities on appendicular skeletal growth
 Alteration in the hypothalamic-pituitary axis, with associated growth
hormone deficiency
Weight
Weight should be assessed in patients with spina bifida. Because of their
decreased linear limb growth and spine growth, patients should be
monitored for weight using arm-span measurements, as opposed to ratios
of height versus weight. During growth spurts, patients require close
monitoring for the development of any deformities, from scoliosis to
deformities of the lower extremities.
Cranial nerve dysfunction
Symptoms of cranial nerve dysfunction include the following:
 Ocular muscle palsies
 Swallowing and eating problems
 Abnormal phonation
These symptoms may be related to the Chiari II malformation,
hydrocephalus, and/or brainstem dysplasia.
Lower brainstem dysfunction
While symptoms are often mild, lower brainstem dysfunction is the leading
cause of death in infants with myelomeningocele because of associated
stridor, apnea, and aspiration pneumonitis. Common symptoms of lower
brainstem dysfunction in infants include the following:
 Abnormal cry
 Swallowing or feeding difficulties
 Frequent vomiting or gastroesophageal reflux
Older children and adults may present with the following:
 Weakness or spasticity of the upper extremities
 Headache or neck pain
 Cerebellar dysfunction
 Oculomotor changes
  Scoliosis
Tethered spinal cord
A tethered spinal cord is caused by the tendency for the spinal cord to
adhere to the meningocele repair and can prevent the normal cephalad
migration of the cord during growth. A tethered cord is present anatomically
in most children with myelomeningocele; the diagnosis of tethered cord
syndrome is confirmed on the basis of clinical signs and symptoms, which
can include pain, sensory changes, spasticity, and progressive scoliosis.
However, uncontrolled hydrocephalus and Chiari II malformation must be
excluded as causes of these symptoms. Moreover, symptoms similar to
those of tethered cord syndrome can also be caused by other intraspinal
pathologies (eg, mass lesions of the cord, diastematomyelia, cord
cavitation and narrowing, adhesions, dural bands).
Syringomyelia
Syringomyelia is caused by uncontrolled hydrocephalus that results in entry
of cerebrospinal fluid (CSF) into the central canal of the spinal cord,
causing dilatation and pressure. While this is a common MRI finding in
patients with myelomeningocele, this condition is symptomatic in only 2-5%
of cases. Symptoms described include the following:
 Progressive scoliosis
 Spasticity
 Increasing weakness of the extremities

Meningocele and myelomeningocele must be differentiated. Meningocele is the

herniated protrusion of only the meninges through a defect in the cranium or
vertebral column. This lesion does not contain neural tissue in the sac.
Spina bifida occulta is a common radiographic finding characterized by simple lack of
fusion of vertebral spinous processes. The spinal cord itself is normal.
Tethered spinal cord
As previously mentioned, the diagnosis of tethered cord syndrome is confirmed on
the basis of clinical signs and symptoms, which can include pain, sensory changes,
spasticity, and progressive scoliosis.
However, uncontrolled hydrocephalus and Chiari II malformation must be excluded
as causes of these symptoms. Moreover, symptoms similar to those of tethered cord
syndrome can also be caused by other intraspinal pathologies, such as the following:
 Mass lesions of the cord
 Diastematomyelia
 Cord cavitation and narrowing
 Adhesions
 Dural bands
Approach Considerations
Laboratory screening tests for neural tube defects can be performed
through blood tests, amniocentesis, or both. These typically are used in
combination with fetal ultrasonography. Prenatal diagnosis and
ultrasonographic confirmation allow for preparation and parental referral to
appropriate care services.
The fetal presence of an open neural tube defect is marked by an elevated
alpha-fetoprotein (AFP) level in the amniotic fluid. Peak concentrations of
AFP in the 13th to 15th weeks of pregnancy permit diagnosis, and
ultrasonographic confirmation with amniocentesis generally is possible at
15-18 weeks. Encephaloceles or skin-covered myeloceles are unlikely to
be detected by AFP measurement.
In children with spina bifida, in addition to routine laboratory screening
examination, testing would include levels of anticonvulsants, urine cultures,
and perhaps cystometrograms and skin testing for latex sensitivity. The last
can be performed by enzyme-linked immunosorbent assay (ELISA) or skin
prick.

CT Scanning and MRI

Hydrocephalus can be tracked with serial cranial ultrasonograms (in
infants) or computed tomography (CT) scans. A CT scan of the head is
appropriate to evaluate for possible recurrent hydrocephalus or a change in
the size or function of the ventricles, which may be affected even with
normal pressure hydrocephalus.
Magnetic resonance imaging (MRI) of the spine and brain is helpful in
neurologic assessment and provides a baseline for comparison in future
investigations, especially in the context of progressive neurologic
deterioration. MRI provides considerable detailed information regarding the
spinal cord and its malformations, including low-lying or tethered cords.
(See the images below.)
 Sagittal, T1-weighted magnetic
resonance imaging (MRI) scan of a child after closure of his
myelomeningocele. Child is aged 7 years. Note the spinal cord ends in the
sacral region far below the normal level of T12-L1. It is tethered at the point
at which the neural placode was attached to the skin defect during
gestation. The MRI scan showed dorsal tethering, and the child complained
of back pain and had a new foot deformity on examination. By definition, all
children with a myelomeningocele have a tethered cord on MRI, but only
about 20% of children require an operation to untether the spinal cord
during their first decade of life, during their rapid growth spurts. Thus, the
MRI scan must be placed in context of a history and examination consistent
with mechanical tethering and a resultant neurologic deterioration.
View Media Gallery
 Axial, T1-weighted MRI scan of a
15-year-old girl who was born with thoracic myelomeningocele,
hydrocephalus, and Arnold-Chiari II syndrome. She was treated with a
ventriculoperitoneal shunt. The ventricular system has a characteristic
shape, with small frontal and large occipital horns, which are typical in
patients with spina bifida. The shunt tube is shown in the right parietal
region.
View Media Gallery
By definition, all children with a myelomeningocele have a tethered cord on
MRI, but only about 20% of children require an operation to untether the
spinal cord during their first decade of life, during rapid growth spurts. Thus,
the MRI scan must be placed in the context of a history and examination
consistent with mechanical tethering and the resultant neurologic
deterioration.

Approach Considerations
In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt
placement are the standard of care for spina bifida and are implemented in
the perinatal period in 93-95% of patients. Supportive care alone may be
recommended in cases associated with an irreparable sac, active gross
CNS infection or bleeding, and/or other gross congenital organ anomalies
causing life-threatening problems.
Patients with spina bifida require extensive, active, interdisciplinary
treatment by a trained and coordinated team. Neonatal neurosurgery is
followed by monitoring of head size and condition for potential
hydrocephalus, evaluation of sphincters, and progression toward an
appropriate bowel and bladder regimen. [32, 33]
Early monitoring of motor function in the lower extremities also is
necessary. Such monitoring should later consist of serial orthopedic
examination, including muscle strength and joint range of motion (ROM)
assessment, to detect any early changes that may require intervention. In
addition, patients should be monitored for appropriate development and be
provided with prolonged physical therapy, gym resources, and adaptive
training while in school. Subsequent efforts are necessary to encourage,
develop, and maintain independence.
Considerable attention may be needed to prevent the "outhouse
syndrome," in which the patient's physical problems give rise to social
consequences because of a failure to comply with an appropriate bowel
regimen. Clean intermittent catheterization has been a very helpful adjunct
to the preservation of urinary function.
Rehabilitative therapies
In addition to physical therapy, rehabilitation for spina bifida includes
occupational and recreational therapy; speech therapy may be indicated for
patients with speech and/or swallowing difficulties. [34, 35, 36, 37]
Physical therapy programs are designed to parallel the normal
achievement of gross motor milestones. Occupational therapy should be
initiated early to compensate for motor skill deficits and should progress
along the normal developmental sequence. Recreational therapy is helpful
for promoting independence by enhancing play and recreational
opportunities.