Spina Bifida

by Stephen J. Falchek
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer
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Congenital Neurologic Anomalies

Overview of Congenital Neurologic Anomalies

Hydrocephalus

Anencephaly

Encephalocele

Malformed Cerebral Hemispheres

Porencephaly

Septo-Optic Dysplasia

Spina Bifida

Spina bifida is defective closure of the vertebral column. Although the cause is not known,
low folate levels during pregnancy increase risk. Some children are asymptomatic, and others
have severe neurologic dysfunction below the lesion. Open spina bifida can be diagnosed
prenatally by ultrasonography or suggested by elevated -fetoprotein levels in maternal
serum and amniotic fluid. After birth, a lesion is typically visible on the back. Treatment is
usually surgical.
Spina bifida is one of the most serious neural tube defects compatible with prolonged life.
This defect is one of the more common congenital anomalies overall, with an incidence in the
US of about 1/1500. It is most common in the lower thoracic, lumbar, or sacral region and
usually extends for 3 to 6 vertebral segments. Severity ranges from occult, in which there are
no apparent anomalies, to protruding sacs (spina bifida cystica), to a completely open spine
(rachischisis) with severe neurologic disability and death.
In occult spinal dysraphism (OSD), anomalies of the skin overlying the lower back
(typically in the lumbosacral area) occur; these include sinus tracts that have no visible
bottom, are above the lower sacral area, or are not in the midline; hyperpigmented areas;
asymmetry of the gluteal cleft with the upper margin deviated to one side; and tufts of hair.
These children often have anomalies in the underlying portion of the spinal cord, such as
lipomas and tethering (in which the cord has an abnormal attachmentsee Figure: Forms of
spina bifida.).
In spina bifida cystica, the protruding sac can contain meninges (meningocele), spinal cord
(myelocele), or both (myelomeningocele). In a myelomeningocele, the sac usually consists of
meninges with a central neural plaque. If not well covered with skin, the sac can easily
rupture, increasing the risk of meningitis.

Forms of spina bifida.

In occult spinal dysraphism, 1 vertebrae do not form normally, and the spinal cord and
meninges may also be affected. In spina bifida cystica, the protruding sac can contain
meninges (meningocele), spinal cord (myelocele), or both (meningomyelocele).

Hydrocephalus is common because many children have a Chiari II type malformation (see
Hydrocephalus).
Syringomyelia (a dilation of the normally small fluid-filled central canal of the spinal cord
see also Syrinx of the Spinal Cord or Brain Stem) and other congenital anomalies and softtissue masses around the spinal cord may be present.

Etiology
Causes seem multifactorial. Folate deficiency is a significant factor, and there seems to be a
genetic component. Other risk factors include maternal use of certain drugs (eg, valproate)
and maternal diabetes.

Symptoms and Signs

Many children with minor defects are asymptomatic.

Neurologic
When the spinal cord or lumbosacral nerve roots are involved, as is usual, varying degrees of
paralysis and sensory deficits are present below the lesion. Rectal tone is usually decreased.
Hydrocephalus (see Hydrocephalus) may cause minimal symptoms or signs of increased
intracranial pressure. Brain stem involvement may cause manifestations such as stridor,
swallowing difficulties, and intermittent apnea.

Orthopedic
Lack of muscle innervation leads to atrophy of the legs. Because paralysis occurs in the fetus,
orthopedic problems may be present at birth (eg, clubfoot, arthrogryposis of the legs,
dislocated hipsee Congenital Hip, Leg, and Foot Abnormalities). Kyphosis is sometimes
present and can hinder surgical closure and prevent the child from lying supine. Scoliosis
may develop later and is more common among children with higher lesions (ie, above L3).

Urologic
Paralysis also impairs bladder function, occasionally leading to a neurogenic bladder and,
consequently, urinary reflux, which can cause hydronephrosis, frequent UTIs, and, ultimately,
kidney damage.

Diagnosis

Ultrasonography or MRI

Spinal cord imaging, with ultrasonography or MRI, is essential in children with OSD; even
children with minimal cutaneous findings may have underlying spinal abnormalities (those
with overt defects do not require spinal cord imaging because the anatomy is known). Plain
x-rays of the spine, hips, and, if they are malformed, lower extremities are done. Cranial
imaging using ultrasonography, CT, or MRI is done to look for hydrocephalus and
syringomyelia.
Once the diagnosis of spina bifida is made, urinary tract evaluation is essential and includes
urinalysis, urine culture, BUN and creatinine determination, and ultrasonography.
Measurement of bladder capacity and pressure at which urine exits into the urethra can
determine prognosis and intervention. Need for further testing, such as urodynamics and
voiding cystourethrogram, depends on previous findings and associated anomalies.

Screening
Prenatal screening can be done by doing fetal ultrasonography and by measuring maternal
serum levels of -fetoprotein (see Maternal serum screening for neural tube defects), ideally

between 16 wk and 18 wk gestation; levels can also be done on amniotic fluid samples if
previous testing suggests an increased risk. Elevated levels suggest increased risk of spina
bifida cystica (OSD rarely causes elevated levels).

Prognosis
Prognosis varies by the level of cord involvement and the number and severity of associated
anomalies. Prognosis is worse for children with higher cord level (eg, thoracic) lesions or
who have kyphosis, hydrocephalus, early hydronephrosis, and associated congenital
anomalies. With proper care, however, most children do well. Loss of renal function and
ventricular shunt complications are the usual causes of death in older children.

Treatment

Surgical repair of the spinal lesion

Sometimes a ventricular shunt

Various measures for orthopedic and urologic complications

Without early surgical treatment, neurologic damage can progress in OSD. Treatment for all
spina bifida requires a united effort by specialists from several disciplines; neurosurgical,
urologic, orthopedic, pediatric, psychiatric/psychologic, and social service evaluations are
important. It is important to assess the type, vertebral segment, and extent of the lesion; the
infants health status; and associated anomalies. Discussion with the family should ascertain
the familys strengths, desires, and resources, and community resources, including
availability of ongoing care.
A myelomeningoocele identified at birth is covered immediately with a sterile dressing. If
the myelomeningocele is leaking CSF, antibiotics are started to prevent meningitis.
Neurosurgical repair of a myelomeningocele or an open spine typically is done within the
first 72 h after birth to reduce the risk of meningeal or ventricular infection. If the lesion is
large or is in a difficult location, plastic surgeons may be consulted to ensure adequate
closure.
Hydrocephalus may require a shunt procedure in the neonatal period; sometimes a
ventricular shunt is inserted when the back is repaired (see Hydrocephalus : Treatment).
Kidney function must be monitored closely, and UTI should be treated promptly. Obstructive
uropathy at either the bladder outlet or ureteral level must be treated vigorously to prevent
infection. When children are between 2 and 3 yr of age, or at any time if they have elevated
pressure in the bladder with vesicoureteral reflux, clean intermittent catheterization is done to
empty the bladder on a regular basis. Catheterization increases continence and maintains
bladder and kidney health.
At around the same time, children are placed on the commode or toilet after meals to
encourage fecal continence. Well-balanced diets are encouraged; stool softeners, laxatives, or
a combination may be helpful to ensure regular bowel movements and to increase continence
(see Stool Incontinence in Children : Treatment). In older children, an antegrade colonic
enema procedure, in which a hole is placed through the abdominal wall into the colon to

allow infusion of liquids, can improve continence. The hole is kept open by a tube (eg, a
gastrostomy feeding tube).
Orthopedic care should begin early. If a clubfoot is present, a cast is applied; surgery is often
necessary after casting (see Talipes equinovarus). Hip joints are checked for dislocation.
Affected children should be monitored for development of scoliosis, pathologic fractures,
pressure sores, and muscle weakness and spasm.

Prevention
Folate supplementation (400 to 800 mcg po once/day) in women beginning 3 mo before
conception and continuing through the 1st trimester reduces the risk of neural tube defects
(see Overview of Congenital Neurologic Anomalies : Prevention). Women who are
considered at high risk of neural tube defects, ie, women who have had a fetus or infant with
a neural tube defect, should take folate 4 mg (4000 mcg) po once/day.

Key Points

Spina bifida involves defective closure of the vertebral column, sometimes with a
protruding sac containing meninges (meningocele), spinal cord (myelocele), or both
(myelomeningocele).
Chiari II malformation, often causing hydrocephalus, is common.

Folate deficiency is a significant risk factor, but other factors include maternal use of
certain drugs (eg, valproate), maternal diabetes, and possibly a genetic component.

Children with minor defects are asymptomatic, but others typically have varying
degrees of paralysis and sensory deficits below the lesion.

Lack of muscle innervation leads to atrophy of the legs and orthopedic deformities.

Screen prenatally using fetal ultrasonography and maternal serum levels of fetoprotein.

Repair the spinal lesion, place a shunt for symptomatic hydrocephalus, and treat
orthopedic and urologic abnormalities as needed.

Prevent by giving folate supplementation.

Last full review/revision December 2014 by Stephen J. Falchek