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 attachment—see figure Forms of spina bifida 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 Hydrocephalus Hydrocephalus is accumulation of excessive amounts of CSF, causing cerebral ventricular enlargement and/or increased intracranial pressure. Manifestations can include enlarged head, bulging... read more is common because many children have a Chiari II type malformation.
Syringomyelia Syrinx of the Spinal Cord or Brain Stem A syrinx is a fluid-filled cavity within the spinal cord (syringomyelia) or brain stem (syringobulbia). Predisposing factors include craniocervical junction abnormalities, previous spinal cord... read more (a dilation of the normally small fluid-filled central canal of the spinal cord) and other congenital anomalies and soft-tissue masses around the spinal cord may be present.
Etiology of Spina Bifida
Causes of spina bifida 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 Effects of drug use during pregnancy Drugs are used in over half of all pregnancies, and prevalence of use is increasing. The most commonly used drugs include antiemetics, antacids, antihistamines, analgesics, antimicrobials, diuretics... read more (eg, valproate) and maternal diabetes Diabetes Mellitus in Pregnancy Pregnancy aggravates preexisting type 1 (insulin-dependent) and type 2 (non–insulin-dependent) diabetes but does not appear to exacerbate diabetic retinopathy, nephropathy, or neuropathy ( 1)... read more .
Symptoms and Signs of Spina Bifida
Many children with minor defects are asymptomatic.
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 may cause minimal symptoms or signs of increased intracranial pressure. Brain stem involvement may cause manifestations such as stridor, swallowing difficulties, and intermittent apnea.
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 Talipes Equinovarus (Clubfoot) and Other Foot Abnormalities Talipes equinovarus, sometimes called clubfoot, is characterized by plantar flexion, inward tilting of the heel (from the midline of the leg), and adduction of the forefoot (medial deviation... read more , arthrogryposis of the legs Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita refers to a group of rare congenital disorders characterized by multiple joint contractures present at birth. These disorders result from limitation of joint... read more , dislocated hip Developmental Dysplasia of the Hip (DDH) Developmental dysplasia of the hip (formerly congenital dislocation of the hip) is abnormal development of the hip joint. (See also Introduction to Congenital Craniofacial and Musculoskeletal... read more ).
Kyphosis Scheuermann Disease Scheuermann disease is an osteochondrosis that causes localized changes in vertebral bodies, leading to backache and kyphosis. Diagnosis is with spinal x-rays. Treatment usually involves only... read more is sometimes present and can hinder surgical closure and prevent the child from lying supine. Scoliosis Idiopathic Scoliosis Idiopathic scoliosis is lateral curvature of the spine. Diagnosis is clinical and includes spinal x-rays. Treatment depends on the severity of the curvature. Idiopathic scoliosis is the most... read more may develop later and is more common among children with higher lesions (ie, above L3).
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 of Spina Bifida
Ultrasonography or MRI
Spinal cord imaging, with ultrasonography or MRI, is essential in children with occult spinal dysraphism; 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.
Prenatal screening can be done by doing fetal ultrasonography and by measuring maternal serum levels of alpha-fetoprotein (see Maternal serum screening for neural tube defects Maternal serum screening for neural tube defects Noninvasive maternal screening, unlike invasive testing, has no risk of test-related complications. By more precisely assessing the risk of fetal abnormalities, noninvasive maternal screening... read more ), 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 (occult spinal dysraphism rarely causes elevated levels).
Prognosis for Spina Bifida
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 of Spina Bifida
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 occult spinal dysraphism. 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 infant’s health status; and associated anomalies. Discussion with the family should ascertain the family’s 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 (see treatment of hydrocephalus Treatment Hydrocephalus is accumulation of excessive amounts of CSF, causing cerebral ventricular enlargement and/or increased intracranial pressure. Manifestations can include enlarged head, bulging... read more ); sometimes a ventricular shunt is inserted when the back is repaired.
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 treatment of stool incontinence Treatment Stool incontinence is the voluntary or involuntary passage of stool in inappropriate places in children > 4 years of age (or developmental equivalent) who do not have an organic defect or... read more ). 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 Talipes Equinovarus (Clubfoot) and Other Foot Abnormalities Talipes equinovarus, sometimes called clubfoot, is characterized by plantar flexion, inward tilting of the heel (from the midline of the leg), and adduction of the forefoot (medial deviation... read more is present, a cast is applied; surgery is often necessary after casting. 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 of Spina Bifida
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 prevention of congenital neurologic anomalies Prevention Congenital brain anomalies usually cause severe neurologic deficits; some may be fatal. Some of the most serious neurologic anomalies (eg, anencephaly, encephalocele, spina bifida) develop in... read more ).
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.
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, 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 alpha-fetoprotein.
Repair the spinal lesion, place a shunt for symptomatic hydrocephalus, and treat orthopedic and urologic abnormalities as needed.
Reduce risk by giving folate supplementation.