Myelomeningocele

Historical note and nomenclature

Malformations involving the formation of the distal spinal cord and spinal column have been identified for centuries. For many centuries, the term “spina bifida” was used to describe all these lesions, from the mildest to the most severe. The term “spinal dysraphism” is actually more appropriate, as “dysraphism” refers to the spinal cord defect. Most of these defects are felt to result from abnormal neurulation; therefore, they are also known as “neural tube defects.” This section will discuss the most common clinically significant neural tube defect, myelomeningocele, a form of spina bifida associated with outpouching of the spinal cord and its coverings through the open defect of the posterior elements of the vertebral arches. This form of spina bifida also involves much of the remaining neuraxis with the frequent presence of hydrocephalus, Chiari malformation, and involvement of the cervical spinal cord.

Neural tube defects (NTDs) are the second only to cardiac malformations as the most prevalent congenital anomaly in the United States. Of these, myelomeningocele, anencephaly, and encephalocele are most common abnormalities. The clinical features, diagnosis, and management of myelomeningocele are reviewed here. Prenatal aspects and anencephaly and encephalocele and prevention of neural tube defects are discussed separately. (See “Prenatal screening and diagnosis of neural tube defects” and see “Ultrasound diagnosis of neural tube defects” and see “Anencephaly and encephalocele” and see “Prevention of neural tube defects”).

 

Embryology of neural tube

The central nervous system (CNS) appears as a plate of thickened ectoderm called the neural plate at the beginning of the third week of embryonic life. The lateral edges of the neural plate become elevated to form the neural folds. These folds subsequently become further elevated, approach each other, and fuse to form the neural tube; the fusion begins in the cervical region and proceeds in both the cephalad and caudal directions. However, fusion is delayed at the cranial and caudal ends of the embryo so that the cranial and caudal neuropores form open communication between the lumen of the neural tube and the amniotic cavity. Closure of the cranial neuropore occurs on the 25th day after conception and closure of the caudal neuropore occurs approximately two days later [1] . Neural tube defects result from failure of the neural tube to close normally between 25 and 28 days after conception.

 

Myelomeningocele

Myelomeningocele (also known as myelocele and meningomyelocele), is due to failure of closure of the posterior neural tube. This leads to malformation of the vertebral column and spinal cord and other CNS anomalies. In severe forms, the neural plate appears as a raw, red, fleshy plaque through a defect in the vertebral column (known as spina bifida) and the integument. A protruding membranous sac containing meninges, CSF, nerve roots, and dysplastic spinal cord often protrudes through the defect. The majority of patients with myelomeningocele also have hydrocephalus and Chiari II malformations [2].

 

If disturbances occur during earlier stages of neural tube formation, canalization, and retrogressive differentiation, the resulting lesions are covered by skin. Approximately 10 percent of patients with spina bifida have a meningocele, in which only the meninges of the spinal cord herniate through the vertebral defect.

 

Etiology

The cause of NTDs is unknown. The majority are isolated malformations of multifactorial origin. NTDs also occur as part of syndromes, in association with chromosomal disorders, or as a result of an environmental exposure [3-9] . (See “Prenatal screening and diagnosis of neural tube defects”).

 

Genetic factors

A genetic factor is suggested by the observations that NTDs have a high concordance rate in monozygotic twins, are more frequent among siblings, and are more common in females compared to males [10] . In addition, there is a high prevalence of karyotypic abnormalities among fetuses with NTDs, especially in the presence of other congenital anomalies. For example, a large study evaluating the frequency of aneuploidy in pregnancies with fetal NTDs found aneuploidy in 7 percent of affected cases [11] . The majority of the abnormal karyotypes were trisomies and most of the trisomic fetuses also had multiple congenital anomalies. A second series reported a similar rate (6.5 percent) of chromosomal abnormalities in fetuses with NTDs [12] . These data support the use of fetal karyotyping as an aid in diagnostic evaluation and recurrence risk counseling [11,12] .

 

Folic acid deficiency. Adequate folate is critical for cell division due to its essential role in the synthesis of nucleic and certain amino acids. Folic acid deficiency has been implicated in the development of NTDs (folate sensitive NTDs) and folate supplementation has been shown to reduce the risk of NTDs. (See “Prevention of neural tube defects”, section on Relationship between folate and NTDS).

 

Folic acid antagonists. Administration of folic acid antagonists (dihydrofolate reductase inhibitors and others) increases the risk of NTDs. In a large case-control study, the risk of NTDs (spina bifida, anencephaly, and encephalocele) was greater with than without exposure to folic acid antagonists (including carbamazepine, phenobarbital, phenytoin, primidone, sulfasalazine, triamterene, and trimethoprim) in the first or second month after the last menstrual period (adjusted odds ratio 2.8, 95% CI 1.7 to 4.6) [13] . The biologic mechanism for this association is largely unknown. (See “Risks associated with epilepsy and pregnancy” section on Antiepileptic drugs).

 

Metabolic disorders. Genetic abnormalities involving the metabolism of folate and homocysteine may account for some cases of NTDs [14] . These disorders may explain why supplementation with folic acid reduces but does not eliminate the risk of NTD. Genes affecting folate metabolism include those encoding methylene tetrahydrofolate reductase and methylene tetrahydrofolate dehydrogenase. Those affecting homocysteine metabolism include those encoding methionine synthase; its regulator, methionine synthase reductase; and cystathionine synthase.

 

Disruptive factors. Some cases of encephalocele may be due to disruptive factors. Encephalocele has been associated with amniotic bands, maternal hyperthermia between 20 and 28 days of gestation [15] , and warfarin embryopathy [16] .

 

Incidence. The incidence of NTDs (of which myelomeningocele is the most common) is highly variable and depends upon ethnic and geographic factors. It usually ranges from one to five per 1000 live births. The highest rates are found in Ireland, Great Britain, Pakistan, India, and Egypt. Within the United States, rates are higher in the East and South compared to the West. In one series from Indiana, the overall incidence of isolated NTDs (excluding anencephaly) from 1988 to 1994 was one per 1000 births [17] . Girls are affected more often than boys.

 

Inhetirance. The recurrence risk for any NTD was 1.5 to 3 percent in the United States when there was one affected sibling, based upon data from three large studies [18-20] . With two affected siblings, the risk was 5.7 percent in another United States study [21] and 12 percent in a British study [18].

 

Prenatal disgnosis. Prenatal diagnosis is accomplished by maternal screening of serum alpha fetoprotein (AFP) levels and/or ultrasonography. (See “Prenatal screening and diagnosis of neural tube defects” and see “Ultrasound diagnosis of neural tube defects”).

 

Maternal AFP screening. Maternal serum alpha fetoprotein screening for NTDs is performed in the second trimester. AFP screening is primarily intended for the detection of open spina bifida and anencephaly, but can also uncover several nonneural fetal abnormalities (eg, ventral wall defects, tumors, dermatologic disorders, congenital nephrosis, aneuploidy). Screening can be performed between 15 to 20 weeks of gestation; however, optimal detection of NTDs is between 16 and 18 weeks. It does not detect closed spina bifida.

 

Ultrasound findings. Sonographic fetal markers pathognomonic for neural tube defects include the lemon sign, the banana sign, ventriculomegaly, microcephaly, and obliteration of the cisterna magnum. The lemon sign refers to a concave shape of the frontal calvarium and the banana sign describes the posterior convexity of the cerebellum in the presence of spina bifida. These changes result from the Chiari malformation (ie, herniation of the cerebellum and brainstem through the foramen magnum) which is present in 95 percent of cases of spina bifida.

 

The normal fetal spine has three ossification centers within the fetal vertebrae. The centers of the neural arches are parallel, with gradual widening toward the fetal head and tapering at the sacrum. Spina bifida appears as widening of the ossification centers in the coronal plane and as a divergence of the ossification centers in the transverse plane. In addition, a cystic sac may be visualized if the fetus has a myelomeningocele.

 

Clinical manifestations

Newborn. The newborn should be assessed in the 5 following areas: (1) whether or not the central nervous system barrier is intact; (2) the degree of hydrocephalus; (3) the presence and severity of brainstem dysfunction as a result of Chiari malformation; (4) the degree of motor and sensory dysfunction from the primary spinal and nerve root abnormalities; and (5) the presence and severity of associated malformations, such as renal, cardiac, and orthopedic deformities. Over 10% of newborns with myelomeningocele have clinically significant brainstem dysfunction that can be life-threatening (Charney et al 1987).

 

With regard to associated problems, renal or urologic status is initially assessed with a bedside examination of the abdomen for evidence of bladder distention and with renal ultrasound. Of particular importance are whether both kidneys are present, whether any hydronephrosis exists, and what the outlet pressure appears to be. Low outlet pressure is most likely present if urine is expelled with increases in abdominal pressure. Low outlet pressure is likely to protect the urinary tract from the negative effects of neurogenic bladder (ie, a situation of high bladder pressure from outlet dyssynergy resulting in urinary reflux and hydronephrosis). Orthopedic assessment should focus on the spine (for the presence of any congenital scoliosis or kyphosis), hips (for dislocations), and ankles or feet (for club feet). Many newborns with myelomeningocele are born with club feet, which will require such management as taping, casting, or surgery.

 

Beyond the newborn period. Issues of the clinical manifestations of myelomeningocele beyond the newborn period relate to 2 major areas: (1) the maximization of function and (2) the prevention and management of complications. The maximization of function requires an adequate assessment of the primary neurologic impairments and an understanding of how these impairments affect function. Finally, one must have a working knowledge of the use of aids and devices as well as rehabilitative measures to compensate for various impairments.

The degree of complete or incomplete paraplegia of the muscle groups below the level of the spinal lesion will determine the subsequent motor impairment. The degree of motor impairment determined by the spinal level directly relates to the potential for functional ambulation. However, it has been described that individuals with similar muscle paresis can exhibit different ambulatory function for a variety of reasons (Bartonek and Saraste 2001).

There are 4 functional categories of ambulation (Hoffer et al 1973):

(1) Community ambulators (L3 levels and lower) are able to walk indoors and outdoors for most activities, although a wheelchair may be used for longer trips outside their immediate vicinity.

(2) Household ambulators (L3 or mid lumbar) may be able to walk indoors and transfer to a wheelchair for community use and most outdoor activity.

(3) Nonfunctional ambulators (L1 to L3) may walk as part of a therapy session or in a gymnasium with orthotic devices, but use a wheelchair for any useful mobility needs.

(4) Nonambulators use a wheelchair for indoor and outdoor activities.

Issues of bladder and bowel impairment do not correlate as well with the level of the neurologic spinal lesion in individuals with myelomeningocele as they do in spinal injury. Most individuals with myelomeningocele have some degree of neurogenic bladder and bowel with a lower motor neuron component. Clinical manifestations include incontinence, renal tract deteriorations from malfunction and infections, and fecal impactions or neurogenic constipation.

The function of the upper extremities is often impaired in those with myelomeningocele. Issues of weakness or coordination are commonly found. Most often, this is related to the presence and consequences of a Chiari malformation, but it can also be due to a syrinx in the cervical spinal cord or other pathology in this area, such as arachnoid cysts.

Brainstem dysfunction can also be a feature of the condition beyond the newborn period, including adulthood. Dysfunction can be minimal to severe and can become symptomatic at any time. Symptoms of particular importance are sleep apnea (Waters et al 1998; Kirk et al 1999), dysphagia, and gastroesophageal reflux. Symptoms and signs can present in a progressive fashion, but acute presentations are also seen.

Symptoms and signs of increased intracranial pressure including headache, nausea, vomiting, lethargy, irritability, and personality change can occur at any time in the life of an individual with myelomeningocele. It is important to note that this is true in both those without and those with ventricular shunts in place. Those without a shunt usually present in the first few months of life with obvious increased intracranial pressure. However, there are older unshunted individuals (including adults) with myelomeningocele who are in need of a shunt to relieve intracranial pressure. Also, individuals with shunts can present with problems related to shunt malfunction at any time. Just because a shunt has not clinically malfunctioned for many years does not mean that it is now working effectively or that is not needed at all. Those with a ventricular shunt in place should always be viewed as being at risk for increased intracranial pressure from shunt malfunction.

Finally, function of the cerebrum is often affected to some degree in myelomeningocele. In fact, one should really consider the condition as potentially involving the entire neuraxis. Myelomeningocele rarely involves the lower spinal cord alone. Cognitive and behavioral functions are often altered. Seizures occur in up to 15% of the individuals. Memory deficits are becoming an increasingly recognized problem and may be related to numbers of shunt revisions (Dennis et al 2007).

The diagnosis of myelomeningocele is usually obvious at birth because of the grossly visible lesion. The vertebral defect involves the lumbar (thoracolumbar, lumbar, lumbosacral) regions (the last portion of the neural tube to close) in approximately 80 percent of cases, although any segment may be involved [22] . Many segments can be affected, and the entire spine distal to the most proximal malformed vertebra is often involved.

 

Neurologic deficits. The specific neurologic deficits depend upon the level of the lesion. In most affected patients, the entire spinal cord distal to the site of the lesion is nonfunctional. Motor and sensory deficits in the trunk and legs correspond to the segments that normally would have been innervated. The deficits usually are severe, resulting in complete paralysis and absence of sensation. The bladder and bowel are affected in nearly all patients, resulting in urinary and fecal incontinence.

 

Occasionally, the distal cord may retain some function, but the afferent pathways to the brain are disrupted. In this case, tendon reflexes or withdrawal to pain may be preserved, although voluntary control of movement and appreciation of pain are absent. A partially functioning segment of the spinal cord sometimes retains some central connections, resulting in voluntary control of isolated movements or the appreciation of sensation in part of the involved limbs. Aberrant connections in the involved spinal cord may result in unusual findings such as contraction of the contralateral limb when tendon reflexes are elicited.

 

Hydrocephalus.The majority of patients with myelomeningocele have hydrocephalus. The etiology is obstruction of fourth ventricular outflow or flow of CSF through the posterior fossa due to Chiari malformation or an associated aqueductal stenosis [23] . In one series of 156 children with myelomeningocele, 80 percent developed this disorder [24] . Hydrocephalus was due to aqueductal stenosis in 73 percent. Signs of hydrocephalus were present at birth in 15 percent of cases.

 

The likelihood of hydrocephalus depends upon the site of the lesion. Hydrocephalus is associated with approximately 90 percent of thoracolumbar, lumbar, and lumbosacral lesions, and approximately 60 percent of occipital, cervical, thoracic, or sacral lesions [22] .

 

Ventricular dilatation is common at birth, often without increased head circumference or signs of increased intracranial pressure [25] . Hydrocephalus typically develops in the neonatal period after surgical repair of the back lesion. This is due to accumulation of excess CSF that previously was decompressed into the large sac or through a leaking myelomeningocele. Shunting is required in most patients.

 

Chiari malformation.The Chiari malformation is an anomaly of the hindbrain present in nearly all patients with thoracolumbar, lumbar, and lumbosacral myelomeningocele. It is the primary cause of the associated hydrocephalus. The major features of the anomaly are [22] :

• Inferior displacement of the medulla and fourth ventricle into the upper cervical canal
• Elongation and thinning of the upper medulla and lower pons and persistence of the embryonic flexure of these structures
• Inferior displacement of the lower cerebellum through the foramen magnum in the upper cervical region
• Bony defects of the foramen magnum, occiput, and upper cervical vertebrae

The malformation is classified into three types, according to the degree of caudal displacement. Type II, in which the fourth ventricle and lower medulla are displaced below the level of the foramen magnum, is the form that is usually associated with myelomeningocele.

 

Brain stem dysfunction due to the Chiari malformation occurs in some patients with myelomeningocele. This results in problems such as swallowing difficulties, vocal cord paresis causing stridor, and apneic episodes, and is associated with a high mortality rate [22,26] . Strabismus and facial weakness can also occur.

 

Other CNS anomalies. Other CNS anomalies often accompany myelomeningocele. In one report, neuropathologic examination was performed on 25 children with myelomeningocele, Chiari malformation, and hydrocephalus [27] . Cerebral cortical dysplasia occurred in 92 percent. The majority had neuronal heterotopias or polymicrogyria. Other abnormalities noted included cerebellar dysplasia (72 percent), hypoplasia or aplasia of cranial nerve nuclei (20 percent), fusion of the thalami (16 percent), agenesis of the corpus callosum (12 percent), and complete or partial agenesis of the olfactory tract and bulb (8 percent).

 

Scoliosis. Scoliosis occurs in most children with meningomyelocele who have lesions above L2 [22] . This complication is unusual when the lesion is below S1.

 

Etiology

The etiology of myelomeningocele is multifactorial and includes genetic and environmental factors (Carter 1969). There is a familial tendency, with a recurrence risk for neural tube defects among siblings of 5% after the first affected child. The risk increases to 10% after 2 affected children (Milhan 1962). Recently, an association between folic acid intake and neural tube defects has been demonstrated. Most recently, a study has shown a continuous dose response relationship between a woman’s risk of having a child with a neural tube defect and her red blood cell folate levels in early pregnancy (Daly et al 1995). The multicenter Medical Research Council Vitamin Study confirmed a protective effect of periconceptual folic acid intake in preventing neural tube defects in over 70% of at-risk pregnancies (MRC Vitamin Study Research Group 1991). A more recent prospective study proved that the protective effects of folic acid extend to all pregnancies, not just those at risk (Czeizel and Dudas 1992). Newer research in this area has shown that neural tube defect pregnancies are at least partially explained by a thermolabile variant of 5,10-methylenetetrahydrofolate reductase that causes high plasma homocysteine levels and reduced red blood cell folate levels (Molloy et al 1998). However, this paper also shows that low folate status alone is a critical factor in neural tube defect pregnancies.

Other observed associations of an increased risk of neural tube defects are with valproic acid intake during early pregnancy, maternal hyperthermia, diabetes mellitus, obesity, Meckel-Gruber syndrome, Dandy-Walker syndrome, and trisomy 13. A paper describing an association between myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene suggested a digenic inheritance as a possible cause of some neural tube defects (Nye et al 1998).

Pathogenesis and pathophysiology

The pathogenesis and pathophysiology of neural tube defects remains a matter of speculation. The spinal cord is formed during embryogenesis by 2 processes: (1) neurulation and (2) canalization. Errors in either process can lead to a neural tube defect. Neurulation occurs at approximately the fourth week of gestation when the flat neural plate forms the cylindrical neural tube. Completion of neurulation includes closure of the posterior neuropore of the distal spinal cord. Caudal to this point of closure (which is believed to be at the lower thoracic spinal cord level), the lumbosacral spinal cord forms by the clustering and cavitation of a group of cells. Thus, neural tube defects can be classified into 2 groups: (1) neurulation defects (upper neural tube defects) and (2) canalization defects (lower neural tube defects). The 2 types are believed by some to be different malformations with different etiologies (Seller 1990).

Epidemiology

There are geographic and temporal variations in the birth prevalence rates of neural tube defects. The highest prevalences of neural tube defects have been recorded in Ireland (4 per 1000 live births) and in China (up to 10 per 1000 live births) (Anonymous 1987; Xiao et al 1990). The lowest prevalences occur in the United States (0.5 per 1000 live births), continental Europe (1 per 1000 live births), and Japan (1 per 1000 live births) (Anonymous 1987; 1991; Hobbins 1991).

A decrease in the birth prevalence of neural tube defects has been recorded in many, but not all, countries over the past 20 years. This decrease is not completely explained by the known increase in prenatal diagnosis with termination of neural tube defect–affected pregnancies (Smithells et al 1989).

Prevention

Prenatal screening programs based on detection of a raised serum alpha-fetoprotein level as a marker for an open neural tube defect are now common (Robertson 1991). Ultrasonic demonstration of a spinal defect, hydrocephalus, or evidence of Chiari malformation is also used in prenatal detection programs. Without the use of alpha-fetoprotein screening, however, ultrasound is believed to be unreliable as a screening tool. These programs report a significant decrease of spina bifida births (Robertson 1991). The serum alpha-fetoprotein levels are screened in maternal serum at 16 weeks’ gestation. Those pregnancies with significantly elevated levels are investigated with ultrasonography. Amniocentesis is performed to determine amniotic alpha-fetoprotein and acetylcholinesterase levels. This continued approach can detect 95% to 98% of cases of open meningomyelocele (Haddow and Macri 1979).

Folic acid prevention. In 1992 the Centers for Disease Control and Prevention published Recommendations for use of folic acid to reduce the number of spina bifida cases and other neural tube defects (Anonymous 1992). According to these recommendations, evidence indicates that women can reduce the chance of neural tube defects by consuming 0.4 mg of folic acid per day. Because the effects of high intakes are not well known but include complicating the diagnosis of B12 deficiency, the recommendations call for keeping total folate consumption at less than 1 mg per day, except under the supervision of a physician.

Women with a prior pregnancy that was affected by neural tube defects are at high risk of having a subsequent affected pregnancy. When these women are planning to become pregnant, they should consult their physician for advice. A 1991 guideline from the Centers for Disease Control and Prevention called for 4.0 mg of folic acid per day (from at least 1 month before conception through the third month of pregnancy) for women with a prior affected pregnancy who are planning a new pregnancy. Although such a high dose may have associated risks, and a lower dose may have an equally beneficial effect, women may choose to follow this guideline because it is based on data from the most rigorous study directly pertaining to neural tube defects and because their risk of a pregnancy affected by neural tube defects may outweigh the risk from consuming 4.0 mg of folic acid per day.

Differential diagnosis

The differential diagnosis for this condition is indeed short. Most issues arise in the prenatal period with diagnosis by ultrasound. Sacral teratoma is occasionally confused with myelomeningocele. The related condition of terminal myelocystocele is sometimes seen. This lesion is skin-covered, and no bony lesions are found. However, a sacral fluid sac and a tethered spinal cord are shared features.

Diagnostic workup

Newborn. A radiological examination of the head and spine is usually performed prior to the repair. Cranial ultrasonography reveals the presence of hydrocephalus, and serial ultrasounds document the progression of hydrocephalus.

A CT scan usually gives a better sense of the status of the intracranial contents than a sonogram and is often used by the neurosurgeon to guide surgical decisions about shunting. Sometimes an MRI scan should be done to assess the presence and degree of Chiari malformation, particularly in a newborn with symptoms or signs of brainstem dysfunction.

Beyond the newborn period. Evaluation is, for the most part, the same as in the newborn period. MRI of the repaired spinal lesion is often required to evaluate an individual with symptoms or signs of tethered spinal cord.

Prognosis and complications

Currently, most individuals born with myelomeningocele are treated aggressively in the newborn period. Although mortality rates in the newborn period were high (approximately 90%) just a few decades ago, a time when treatment was not as aggressive, a more recent mortality rate from an unselected series published in 1989 was 15% (McLone and Naidich 1989). A published update of this series showed that mortality continues to climb into young adulthood with the rate reaching 24% (Bowman et al 2001). Reasons for death in this series were predominantly related to brainstem dysfunction from Chiari malformation. Patients with higher lesions (ie, high lumbar and thoracic levels) were at greater risk for mortality, hydrocephalus, scoliosis, lower intelligence (measured by IQ), and other complications. It should be noted, however, that hydrocephalus is seen in the vast majority (80% to 90%) of myelomeningocele patients (George and Hoffman 1992).

As the review by George and Hoffman also points out, almost three quarters of individuals have IQs within the normal range. More subtle, but functionally significant, neuropsychological deficits are common and should be searched for. The review also indicates that 40% to 85% are functional ambulators, only 10% maintain undeformed spines with up to 50% requiring some type of surgical correction, and 6% have other malformations accompanying their myelomeningocele (George and Hoffman 1992).

Management

Fetus. The closure of the myelomeningocele defect in the fetal period is currently being studied in a multicenter, NIH-sponsored trial (Farmer et al 2003; Johnson et al 2003; Tubbs et al 2003). The rationale behind this approach is that in utero closure will protect the placode from the damaging effects of amniotic fluid. However, some evidence now exists that the neural placode shows evidence of developmental abnormalities, problems that by definition would not be protected by fetal cell closure (George and Cummings 2003). To date, there have not been convincing results reported with regards to improvement in motor and sensory level outcomes (an improvement that would be expected if the rationale were correct). However, reports from these centers suggest less hindbrain herniation and possibly a decreased requirement for ventriculoperitoneal shunt placement with this approach (Bruner et al 1999; Sutton et al 1999). More recently, mid-gestation repair of myelomeningocele appears to improve fetal head growth (Danzer et al 2007).

Newborn. Early closure of the myelomeningocele is usually advocated to prevent further spinal cord damage and infection. Some centers believe there is no advantage in waiting 1 or 2 days so that the parents become familiar with their child and the possible problems and outcomes. Usually the back lesion is closed by covering the defect with skin. Sometimes a surgically created skin or skin or muscle flap is necessary. Parents should be informed that this initial surgery will not cure their child. Neonatal kyphectomy should be performed when indicated (Crawford et al 2003).

Beyond the newborn period. Most authors agree that to achieve the goals of high quality care for individuals with myelomeningocele, a system of comprehensive and coordinated care is required. A multidisciplinary spina bifida clinic or program can be the hub of such a system. Such a clinic should provide a number of important services, which include the following: (1) routine comprehensive medical evaluations that include ongoing communication with the family and the patient; (2) preventative health care and anticipatory guidance; (3) nursing services, especially to evaluate, plan, and coordinate the child’s health needs within the home and school; and (4) psychosocial support including evaluational, therapeutic, and informational services.

The following important areas are addressed in the medical assessment:

Neurologic and neurosurgical.

(1) Serial assessment of the neurologic level of impairment (motor and sensory) to detect deterioration from such potentially reversible problems as ventricular shunt malfunction, tethered spinal cord, hydromyelia, and spinal cord compression from lumbar stenosis or arachnoid cysts. Other neurologic changes of potential importance include decrease of muscle strength or a change in tone.

(2) Assessment of upper extremity function (in particular, decreases in hand grip strength, changes in reflexes, evidence of hand atrophy, pain or paresthesia in the hands or arms, or onset of upper extremity weakness) should raise the suspicion of a symptomatic Chiari malformation or syringomyelia. Sometimes evidence of carpal tunnel syndrome is identified.

(3) Examination of coordination, as coordination problems may signify changes in the status of hydrocephalus or a Chiari malformation.

(4) Monitoring for symptoms and signs of increased intracranial pressure including headache, nausea, vomiting, lethargy, irritability, and personality change.

(5) Monitoring for changes in school performance or other functions. This may be a nonspecific indicator of a new problem arising, such as uncompensated hydrocephalus (shunted or unshunted) or depression. Medical disturbance such as electrolyte imbalances or renal failure may present this way. Complex psychological adjustment reactions may come to the forefront as educational disturbances. However, medical causes need to be investigated and ruled out at the same time as the psychosocial issues are pursued. In some cases the use of methylphenidate with careful monitoring of effect and side effects may be helpful (Davidovitch et al 1999).

(6) Management of such neurologic issues as seizures, which may occur in up to 15% of individuals with myelomeningocele by adolescence (Bartoshesky et al 1985). Recent reports have identified a subgroup with mental deterioration from continuous spike-waves during slow sleep (Battaglia et al 2004).

(7) A group of infants with spina bifida will develop early difficulties from Chiari malformation. Most of these problems have been described as the “infant brainstem syndrome” (Charney et al 1987). Prominent symptoms include apnea, stridor, and dysphagia. Most authorities recommend that such cases have surgical decompression of the Chiari malformation, but this approach is not universally supported.

Urologic. Treatment of urologic abnormalities ensures health and is a high management priority. Individuals who are at high risk for renal deterioration need to be identified. They include individuals with high-pressure bladder systems, vesicoureteric abnormalities leading to reflux and hydronephrosis, or recurrent urinary tract infections (Ehrlich and Brem 1982). It is important to emphasize that urologic status is rarely static in people with spinal dysraphism; individuals can convert from the low- to the high-risk group. Frequent monitoring and aggressive management centered around clean intermittent catheterization are needed to prevent such complications as hypertension and renal failure (Rickwood and Thomas 1984).

Another major aspect of urologic care is the management of urinary incontinence. The management of incontinence has advanced considerably over the last 2 decades, particularly with the acceptance of clean intermittent catheterization and advances in bladder augmentation surgery. A rational management plan must be based on adequate information about voiding function. This usually requires a cystometrogram to determine bladder tone and pressure, outlet function, and the coordination or degree of synergy or dyssynergy between the two. Management of urinary continence often includes the use of medications such as oxybutynin for bladder relaxation, sympathomimetics such as ephedrine to promote bladder outlet contraction, and imipramine to do both. Doses must be titrated, and side effects monitored. Some authors recommend intravesical infusion of oxybutynin when side effects like flushing become prohibitive in those on oral administration (Greenfield and Fera 1991).

Finally, issues of sexual function need to be considered as the patients approach adolescence (Joyner et al 1998). The proper management of sexuality in this group goes beyond medical management and needs to involve disability-specific education as well as supportive home, community, and medical environments; as well as parents and professionals working together to help individuals meet their developmental milestones with regard to intimacy and sexuality. More attention paid to those matters in spina bifida programs would go a long way toward helping people with disabilities overcome some of the substantial barriers that exist for them toward achieving lives that include intimacy and expression of their sexuality.

Orthopedic. The management of orthopedic deformities in individuals with dysraphic states has been the subject of much discussion, and management philosophies often differ. The key issue is whether to pursue aggressive interventions to maintain ambulation as long as possible. Orthopedic interventions, often required to maintain an upright posture and adequate hip-knee-ankle alignment, include release of hip or knee contractures and procedures designed to manage dislocated hips. Proponents of aggressive maintenance of an ambulatory state maintain that this is a critical component of child development (Jackman et al 1980; Gram et al 1981). Other factors stated to support this approach include less skin breakdown, better renal health, and improved bowel function and continence. On the other hand, others argue that the repeated surgical procedures required to maintain ambulation are too high a price to pay (Shurtleff 1986). Risks and complications of these procedures can have lasting consequences (Drummond et al 1981). Furthermore, many individuals with myelomeningocele do not remain ambulatory, with this usually becoming evident in the second decade of life. There are also data suggesting that the ones who maintain ambulation have as many problems with skin breakdown as the ones who forgo ambulation in favor of wheeled mobility, just in a different distribution (feet or ankles versus sacrum buttocks) (Liptak et al 1992).

The first orthopedic problem to be confronted in a newborn with myelomeningocele is the management of club-foot, usually talipes equinovarus. Serial casting is the first line of treatment, with surgery being reserved until later (if it is even necessary).

The proper alignment of the spine is indisputably an important area for the orthopedist. It is recommended that scoliosis of greater than 40 degrees and kyphosis of greater than 60 degrees undergo orthopedic correction by some method of vertebral fusion with instrumentation (Osebold et al 1982). Lesser degrees of scoliosis that appear to be progressing are usually managed with a body brace.

Lesions of the fifth lumbar nerve root and below (ie, sacral lesions) are often associated with inversion eversion and calcaneal deformities of the foot and may require tendon releases, transfers, and sometimes joint fusions.

Orthopedic management also includes the appropriate introduction of orthoses such as hip-knee-foot, knee-ankle-foot, and ankle-foot orthoses. Parapodium and reciprocating gait orthoses may be considered for youngsters with thoracic level lesions who are candidates for ambulation. Canes or crutches should also be offered. The evaluations for and prescriptions of these devices are best done by a cooperative team that includes the orthopedist, orthotist, and physical therapist.

Medical

Bowel continence. The management plan of fecal incontinence is based on an individual assessment of the child. The history should determine stool frequency and consistency, frequency and timing of toileting, level of functional independence, sensation for stool in the rectum, diet, and family attitudes and schedules. Physical examination should note external and internal sphincter tone, the ability for any voluntary sphincter contractions, presence or absence of an anal wink, and amount and consistency of stool in the rectal vault. A management plan should be step-wise in approach, including a large amount of education, feedback, and support. The major steps include the following:

(1) Regular toileting 10 to 15 minutes after meals to take advantage of the gastrocolic reflex. Behavioral therapy or biofeedback can be of use to reinforce positive toileting behaviors.

(2) Increase the stool bulk and consistency with a high-fiber diet or products.

(3) Use of suppositories or cathartics.

(4) Enemas such as standard or retention. There is danger in using repeated hypertonic phosphate enemas. Many patients have low anal sphincter tone and require a cuffed-balloon enema tube for effective enema use (Liptak and Revell 1992).

Most important is the need to approach each family and child as individuals, recognizing their resources and abilities to carry out the recommendations of a particular program designed to achieve fecal continence.

Skin integrity. This is the most important cause of morbidity in the population. Prevention and early detection are the best approach to this problem. Methods of prevention include teaching self–skin checks and recognizing such signs of an early pressure ulcer as persistent redness. Early detection must be followed by relief of such inciting factors as pressure and wetness, as well as appropriate wound care when needed.

Obesity. Like obesity in the general population, this is an extremely difficult problem to treat once it occurs. Excessive weight gain is best identified in the preschool age group when a child first begins to cross higher percentile curves for age. At this point, nutritional and fitness or activity level counseling should be initiated. Weight should also be monitored carefully after surgery, as this is a common period of weight gain from decreased activity level or increased caloric intake.

Endocrinopathies. The most common endocrine problem identified in patients with myelomeningocele is precocious puberty (Meyer and Landau 1984). Another problem is short stature (Hayes-Allen 1972). There is some concern that the short stature seen in these children has lasting psychological consequences over and above those resulting from other impairments associated with the condition. Treatment with growth hormone has been advocated by at least one group (Rotenstein et al 1989). However, growth hormone treatment is not without potential side effects, and the effectiveness of this therapy, either on ultimate height or for combating the psychological consequences of short stature, is not yet scientifically proven.

Latex allergy. This is now recognized as an important health issue for individuals with myelomeningocele. An incidence rate of at least 20% has been cited (Leger and Meerpol 1992). Individuals allergic to latex can have life-threatening reactions to products containing latex. Exposure to latex during surgery represents a particular risk, with anaphylactic shock and death occurring. Screening for latex allergy prior to surgery is now carried out in many centers by direct inquiry about previous latex reactions and determining latex titers by immunologic testing. Individuals with high antibody titer to latex are counseled about risk, exposure, and avoidance of latex products during and after surgery. Also, surgical teams should be alerted to the risk so that appropriate precautions (latex-safe operating room, nonlatex gloves, etc.) can be taken.

Genetic counseling. It is important to have professional genetic counseling services available to families of children born with spina bifida. Particular attention should now also be paid to folic acid education. It is now believed that over one half of cases of neural tube defects may be preventable with the use of folate supplementation before conception. This includes cases with a family history of previous neural tube defects. Finally, it has become increasingly clear that adolescents and young adults with spina bifida are often not given sufficient personal information regarding the genetic aspects of their condition. These individuals also deserve and would benefit from genetic counseling.

Role of the multispecialty clinic or program in the care of individuals with myelomeningocele. It would not be appropriate to complete a review of the care of individuals with myelomeningocele without further commenting on the methods used to deliver services to this population. Almost from the beginning of providing serious services to this group, the advantages of using a multispecialty or multidisciplinary group to deliver care have been emphasized (Shurtleff 1986). A key feature of this approach is the greater potential for communication among providers, thus, increasing coordination, comprehensiveness, and access. All of these elements of care are deemed important aspects of high-quality care. Their absence has been documented to lead to increased health problems for this population (Kaufman et al 1994). The Spina Bifida Association of America produced the “Guidelines for Spina Bifida Health Care Services Throughout Life” in 1990 and updated in 1995, in which they emphasize the importance of the multispecialty spina bifida team for providing adequate levels of service. (The guidelines can be obtained from the Spina Bifida Association of America at 4509 MacArthur Blvd, NW, Suite 250, Washington, DC, 20007-4226.) The guidelines also focus on expected outcomes, with the goals of maintaining health status and preventing secondary disabilities, maximizing potential to participate in society, and fostering independence according to individual abilities. The guidelines further stress a developmental approach that adds an anticipatory element to the care. In this age of health care reform and managed care, the guidelines form the basis for a rational, coordinated, and comprehensive plan for care for individuals with spina bifida.

Pregnancy

At least one adult series noted 3 cases of symptoms of tethered cord syndrome in individuals and spinal dysraphism precipitated after childbirth in the lithotomy position (Pang and Wilberger 1982). Care needs to be taken in obstetrical situations with a patient with known spinal dysraphism.

Anesthesia

Saitoh and colleagues suggest that proper management includes avoidance of increased intracranial pressure and respiratory dysfunction (Saitoh et al 1993). These patients can also have autonomic dysfunction. Concerns about latex avoidance to minimize the risk of intraoperative anaphylaxis are real and need to be counseled during delivery situations (Gold et al 1991).

Associated disorders

Chiari malformation

Hydrocephalus

Hydromyelia

Infantile brainstem syndrome

Syrinx

Tethered spinal cord

Related summaries

Cephalocele

Diastematomyelia and diplomyelia

Myelomeningocele: neurosurgical perspective

Sacral agenesis

Management

Management of children with spina bifida should involve a multidisciplinary team with expertise in developmental pediatrics, neurosurgery, orthopedics, neurology, urology, and physical medicine and rehabilitation. Physical and occupational therapists, nutritionists, social workers, wound specialists, and psychologists are also helpful. This team of specialists works together to coordinate care and evaluate the patient’s progress.

 

Delivery. If a prenatal diagnosis of myelomeningocele has been made, delivery should occur at a hospital with personnel experienced in the neonatal management of these infants [28] . Delivery before term may be indicated if rapidly increasing ventriculomegaly is observed and fetal lung maturity has been documented, otherwise, term delivery is preferable [28] . Sterile nonlatex gloves should be used during delivery to minimize the risk of latex sensitization [29] .

 

Breech presenting fetuses are typically delivered by cesarean section. (See “Delivery of the fetus in breech presentation”). The optimal route of delivery of the vertex fetus is controversial, and no prospective randomized trials have been performed.

 

One study compared the outcome of 47 infants with a prenatal diagnosis of isolated myelomeningocele without severe hydrocephalus delivered by cesarean section before labor to a historic cohort of 113 infants with myelomeningocele diagnosed after delivery (35 delivered by cesarean section after a period of labor and 78 delivered vaginally) [30] . The level of paralysis at two years of age was approximately two segments lower in the group delivered by elective cesarean section without labor. However, it is possible that advances in neonatal care and prenatal diagnosis led to interventions in the delivery room that resulted in a better outcome in the study group. Several other retrospective studies, but not all [31] , have not found a benefit of cesarean delivery, with or without labor, compared to vaginal birth [32-37] .

 

Most centers deliver these infants by cesarean birth. Since data are inadequate to make a general recommendation about the optimal route of delivery, this decision should be individualized [28] . Future trials should address the effects of both route of delivery and labor on neuromuscular function.

Neonatal assessment. Immediately after birth, the lesion should be briefly assessed to note its location, size, and whether it is leaking CSF. Sterile non-latex gloves should be used. The defect should be covered with a sterile saline-soaked dressing. Large defects should also be covered by plastic wrap to prevent heat loss. In most cases, only the neurosurgeon should remove the dressing. The infant should be placed in a prone or lateral position to avoid pressure on the lesion.

 

The newborn should be evaluated thoroughly to detect associated abnormalities in order to make appropriate decisions regarding treatment [38] . The parents should be counseled regarding the infant’s prognosis and participate in decisions regarding management [39].

 

The presence of the following should be noted:

• Signs of hydrocephalus
• Clubfeet
• Flexion or extension contractures of hips, knees, and ankles
• Kyphosis
• Other abnormalities such as congenital heart disease; structural defects of the airway, gastrointestinal tract, ribs; developmental dysplasia of the hip; or ultrasound evidence of renal malformations such as hydronephrosis
• Early complications such as CNS infection
• A thorough neurologic examination should be performed. (See “Neurologic examination in children”). This should include:
• Observation of spontaneous activity
• Extent of muscle weakness and paralysis
• Response to sensation
• Deep tendon reflexes
• Anocutaneous reflex (anal wink)

Surgical closure. The back lesion should be surgically closed within the first 24 to 48 hours after birth. This decreases the risk of CNS infection. Prophylaxis with broad spectrum antibiotics until the back is closed also reduces the risk of CNS infection. In a retrospective study of infants with back closure performed after 48 hours of age, ventriculitis occurred less with than without antibiotic prophylaxis (1 versus 19 percent) [40] .

Hydrocephalus. Ventricular size should be evaluated soon after birth by ultrasound, CT, or MRI. Serial neuroimaging should be performed to identify the development of hydrocephalus. Progressive hydrocephalus should be treated by insertion of a ventriculoperitoneal shunt.

In some infants, simultaneous meningomyelocele repair and shunt placement may be appropriate. In a retrospective review, the frequency of CSF infection, shunt malfunction, and symptomatic Chiari malformation was similar with simultaneous and sequential repair and shunting [41] . The rate of wound leak was lower and hospital length of stay was shorter in the simultaneous group.

Orthopedic problems. Orthopedic management should be directed at correcting deformities, maintaining posture, and promoting ambulation if possible, so that patients can function at their maximum capability. Factors that predict an increased likelihood of walking ability are motor level and sitting balance [42] .

Orthopedic deformities result from congenital skeletal anomalies that often involve the feet, knees, hips, and spine; unbalanced muscle action around joints; and fractures, which often affect the legs of paraplegic patients. In a review from Spain of 393 infants with myelodysplasia, hip dislocation and feet deformities occurred in 24 and 50 percent, respectively [43] . Scoliosis also is common. Management techniques that often improve function include the use of casting and corrective appliances, surgical procedures on soft tissue and bone, and the use of orthoses.

Fractures. Fractures of the lower extremities occur in approximately 30 percent of patients with meningomyelocele [44] . They may develop without known traumatic injury or may be related to vigorous physical therapy. Factors that increase the risk of fracture include the lack of protective sensation of the leg, osteopenia, nonambulation, foot arthrodesis (fusion of the joint), and higher level of paralysis [44,45]

 

A fracture should be strongly suspected when a patient with myelodysplasia presents with a red, warm, and swollen limb. These clinical signs are sometimes confused with cellulitis or osteomyelitis because some children with diaphyseal and metaphyseal fractures also have fever, elevated sedimentation rate, and leukocytosis [46] , The diagnosis of fracture is confirmed with a radiograph of the limb.

 

Urinary tract complications. Nearly all patients with spina bifida have bladder dysfunction that can lead to deterioration of the upper urinary tract. The location of the spinal lesion or the neurologic examination do not predict the type of dysfunction. However, urinary continence with intermittent catheterization can be predicted by a positive anocutaneous reflex, which indicates a competent sphincter mechanism. In one report, continence was achieved in 26 of 29 patients (90 percent) with a positive reflex compared to 41 of 82 (50 percent) with a negative reflex [47] . Fewer patients with a positive reflex needed adjunctive surgery (7 versus 28 percent). A substantial number of individuals who do not have urinary continence during childhood will spontaneously achieve continence after puberty [48].

 

A baseline renal ultrasound and voiding cystourethrogram should be performed to identify patients at risk for upper tract deterioration. Function of the neurogenic bladder should be evaluated in affected newborns with a cystometrogram, which measures bladder capacity, compliance, voiding pressures, and the relationship between the detrusor and the urinary sphincter [49] . Vesicoureteral reflux may result from detrusor hyperreflexia or detrusor sphincter dyssynergy. In one report, urodynamic evaluation of 36 infants with myelodysplasia showed incoordination of the detrusor and external urethral sphincter, synergic activity of the sphincter, and no sphincter activity in 18, nine, and nine patients, respectively [50] . Infants with incoordination of the detrusor-external sphincter were at high risk for urinary tract deterioration. Of that group, 13 of 18 (72 percent) developed hydroureteronephrosis, compared to two of nine with synergy and one of nine with no sphincter activity.

 

Urologic function can deteriorate in affected children with normal urodynamic studies after surgical repair in the neonatal period [51] . Deterioration is due to spinal cord tethering, which is most likely to occur during the first six years of life. These children require close follow-up for the early detection and correction of tethered spinal cord.

Clean intermittent catheterization. Patients with vesicoureteral reflux should receive antibiotic prophylaxis, anticholinergic medication to lower detrusor filling and voiding pressures, and clean intermittent catheterization (CIC) to prevent urinary tract deterioration [52,53] . The efficacy of this regimen was demonstrated in a sequential nonrandomized study that compared prophylactic (clean intermittent catheterization and oxybutynin) and expectant treatment in patients with these urodynamic findings [52] . During five years of follow-up, the upper urinary tract deteriorated less often in the treated group (8 versus 48 percent).

Early initiation of CIC may further improve outcomes. In a nonrandomized trial reporting outcomes after at least 11 years of CIC, initiating CIC early (<1 year old) was associated with less urinary tract deterioration than late treatment initiation (>3 years old) [54] . Other observational studies suggest similar benefits. [54-56] .

Some patients will continue to have urinary tract deterioration despite an optimal regimen of CIC. For these patients, nocturnal bladder emptying using a continuously draining catheter or scheduled CIC can be helpful. In a study of 19 children,15 had clinical benefit in hydronephrosis, recurrent UTI, or other symptoms [57,58] .

Clean intermittent self-catheterization has very few complications. In a study of 31 females followed to 10 to 19 years of CIC (with or without anticholinergic treatment), only minor complications were seen. These were least likely to occur when catheters size CH12 or larger were used, and when self-catheterization was performed instead of assisted catheterization [59] . Complication rates were also low in boys [60].
For an anticholinergic agent, oxybutynin syrup (Ditropan, 1 mg/mL) is used in a dose of 0.1 mg/kg PO three times a day for infants <12 months of age, and 1, 2, 3, or 4 mg/kg per dose three times a day for children one, two, or three years of age, respectively. For children ≥5 years old, we use oxybutynin tablets (Ditropan, 5 mg PO three times a day), or the extended release preparation (Ditropan XL, beginning with 5 mg PO daily and titrated to effect, with maximum dose 20 mg daily). An alternative drug is tolterodine (Detrol) in a dose of 1 to 2 mg PO twice a day or the long-acting preparation (Detrol LA), 2 to 4 mg PO daily.

Surgery. Several surgical procedures are used to manage neurogenic bladder in patients with meningomyelocele. Ureteral reimplantation is sometimes performed in patients with persistent reflux and upper tract deterioration or with recurrent urinary tract infections in spite of clean intermittent catheterization and prophylactic antibiotics [61]. A vesicostomy is performed for bladder drainage in infants with high bladder pressure who continue to worsen while receiving clean intermittent catheterization and anticholinergic medication [62] . Vesicostomy is usually used for temporary diversion, but is a long-term option in patients unlikely to achieve continence [62,63] .

The most common surgical approach is augmentation of the bladder [64] . In this procedure, a detubularized segment of intestine (ileum, colon, or stomach) is added to the bladder to increase capacity and lower pressure. The procedure usually results in the achievement of urinary continence. Linear growth and bone density are comparable in children with myelomeningocele with or without the procedure, although serum bicarbonate levels are lower and chloride levels are higher in those who have ileal, but not gastric augmentation [65] . Other complications include bladder calculi, bladder rupture, and excessive mucus in the urine that may lead to catheter obstruction [61] .

Patients who are unable to catheterize their own urethra may benefit from a continent catheterizable channel (such as a Mitrofanoff or Monti ileovesicostomy). The new channel is constructed from appendix or bowel with a stoma placed at the level of the umbilicus or on the lower abdomen [66,67] . This more accessible location reduces the time required for clean intermittent catheterization, especially in females with lesions at the thoracic level. The most common complication is stenosis of the stoma at the level of the skin which may require dilation or surgical revision.

A surgical technique to bypass the neurologic defect through the microanastomosis of the fifth lumbar ventral root to the third sacral ventral root has been described [68] . Among 20 children with myelomeningocele who had this procedure, 17 achieved satisfactory bladder control and continence within 8 to 12 months after the procedure. These results await confirmation by other centers.

Neurogenic bowel. The innervation for internal and external sphincter control is at the level of S2 to S5. Thus, patients with meningomyelocoele may experience varying degrees of fecal incontinence. As children become preschool or school aged, fecal incontinence leads to embarrassment and social isolation and should be avoided.

The goal of a neurogenic bowel continence program is to achieve timed elimination of stool through the use of oral laxatives, suppositories, and enemas [69] . These methods are used singly or in combination. Accomplishment of continence requires patience and motivation on the part of the family, physician, and nurse educator. A second goal is to avoid fecal impaction and the related liquid encopresis that occurs and is often mistaken by families as an episode of diarrhea. (See “Definition, clinical manifestations, and evaluation of functional fecal incontinence in children”).

At the initiation of a bowel management program, bowel clean-out may be necessary. If the history of the patient reveals that there are several days without a bowel movement, or there is palpable stool on abdominal exam or rectal exam, then bowel clean out with a Fleet’s enema should be initiated. The Pediatric Fleet’s enema, which contains approximately 60 mL of solution should be used for children between 2 and 10 years of age. An abdominal radiograph should be ordered if confirmation of stool quantity is needed (eg, in an overweight patient). The assistance of a gastroenterologist may be needed if routine enemas do not produce acceptable results.

 

Once the bowel clean out has been accomplished, the patient may be placed on a regular program of a daily oral agent. Alternative regimens include:

 

• Senokot: 0.5 to 1 tsp (2.5 to 5 mL) PO at bedtime in children 2 to 6 years of age and 1 to 2 tsp (5 to 10 mL) at bedtime in older children
• Perdiem (100 percent psyllium): 1 to 2 tsp (5 to 10 mL) PO each day with 8 ounces (240 mL) of fluid per dose)
• Lactulose (10 g/15 mL): 0.5 to 1 tsp (2.5 to 5.0 mL) PO each day

In addition, to the oral agent, a glycerin or bisacodyl suppository (10 mg) should be administered once per day 15 to 20 minutes after a meal to take advantage of the gastrocolic reflex. This is followed by placing the young child on the toilet and making sure his or her feet are well supported.

 Some patients require daily evacuation of stool with the use of the visi-flow enema, which requires 20cc/kg of saline. This enema system comes with a water regulator so that the parent or the patient can control the speed of the water (or turn it off altogether for a rest) if he or she experiences abdominal cramping. Completing the enema takes usually 20 to 30 minutes. School-aged patients appreciate having the opportunity to have a nightly enema and avoid school accidents the following day.

 

If conservative medical management fails, then a surgical option is the antegrade continence enema [70-74] .In this procedure, the appendix and cecum (or ileum if the appendix is not available) are used to create a catheterizable stoma. The patient is able to clean out the colon from the proximal end of the large intestine while sitting on the toilet, reducing the risk of fecal soiling and constipation. Fecal continence is achieved with this technique in approximately 85 percent of patients with spina bifida [74] .

 

Skin integrity

Disruption of skin integrity is an important cause of morbidity in children with myelomeningocoele and often leads to hospitalization [75,76] . Pressure sores (decubiti) often develop on the sacrum, buttocks, back, and feet. Other lesions include burns, abrasions, and ammoniacal dermatitis. Affected children are especially susceptible to burns because their lower extremities lack sensation and may not detect an elevated temperature. They should not be placed under running water without supervision because they may not detect exposure to very hot water. Similarly, they should avoid leaving hot food on the lap for a prolonged period which may lead to burns of the anterior thighs.

 

Patients with high level lesions may develop pressure sores with subcutaneous tissue necrosis. Patients with defects at the thoracic level are at risk for skin breakdown over the perineum and gibbus (bony angulation of collapsed vertebrae). The skin breakdown over the perineum is due to asymmetrical weight bearing and fecal and urinary incontinence. A commonly affected area is the ischial tuberosities, which should be inspected closely.

 

Ulceration over bony prominences and beneath orthotic devices can become very deep and involve muscle and/or bone. A chronic ulcer that does not improve with medical management should be evaluated for evidence of osteomyelitis. An abnormal radiograph or bone scan or an elevated sedimentation rate or C-reactive protein level may help distinguish an infected ulcer requiring long-term antibiotic therapy from a chronic ulcer that might benefit from consultation with a wound care specialist or plastic surgeon [77] .

 

Neuropathic foot ulceration is common in patients who have low lumbar or sacral myelomeningocele. In one report, patients most likely to develop ulcers had foot rigidity, nonplantigrade position, and had undergone surgical arthrodesis [78] .

 

Factors contributing to skin breakdown include excessive pressure associated with limited mobility and overweight, infection, trauma, poor circulation, lack of sensation. and fecal and urinary incontinence. Prevention and management include [79,80]:

 

• Careful inspection of the skin
• Proper skin cleansing
• Avoidance of occlusive clothing
• Elimination of movements that cause friction
• Proper fitting orthosis and wheelchairs
• Symmetric weight bearing
• Frequent weight shifts
• Exposure of the affected skin to air
• Prompt medical attention to an affected area

Protective skin lotions and ointments may reduce pain and erythema associated with perineal skin breakdown in incontinent patients. Although no studies are available in children, these preparations have been shown to be effective in incontinent elderly patients [81] .

 

Latex allergy

Many children with myelomeningocele have allergic reactions to latex, ranging in severity from contact urticaria to anaphylactic shock [82] . In one review of 60 children with myelomeningocele, 48 percent were sensitized and 15 percent were allergic to latex [83] . In another review of 71 patients who were followed for 20 to 25 years, 33 percent were allergic to latex and 9 percent had experienced a life-threatening reaction [29] . The mechanism for development of allergy is thought to be repeated exposures to latex rubber during multiple surgical procedures, as well as daily bladder catheterization and bowel management, although there may be factors unique to the underlying condition [84] . Products containing latex should be avoided [85].

 

PROGNOSIS 

The prognosis for patients with myelomeningocele depends upon decisions regarding their care, the level of the lesion, and the presence and severity of neurologic deficits, hydrocephalus, and other central nervous system anomalies, as illustrated below.

 

With aggressive treatment, the majority (approximately 85 percent) of patients survive the neonatal period [86,87] . In one review of 212 patients, 72 percent of survivors were ambulatory and 79 percent were considered to have normal cognitive development [86] . In another series of 200 patients, 74 percent were at least partially ambulatory and 87 percent had urinary continence [87] . There was a small, but statistically significant improvement in the first year survival rate of infants with spina bifida in the United States after the introduction of mandatory folic acid fortification of the grain supply (from 90.3 to 92.1 percent) [88] . (See “Prevention of neural tube defects”, section on Relationship between folate and NTDS).

 

In children with myelomeningocele and hydrocephalus, high spinal cord lesions (T12 and above) are associated with more severe anomalous brain development. More severe anomalous brain development is associated with poor neurobehavioral outcomes on measures of intelligence, academic skills, and adaptive behavior [89] .

 

In patients with open spina bifida, the presence of perineal sensation during infancy is a useful predictor of neurologic function and long-term outcome. In a study of 117 patients with these lesions, 72 percent had no perineal sensation [90] . Among this group, there was a higher long-term risk of death as compared to infants with intact perineal sensation (32 versus 70 percent survival at 30 years), and there was an increased trend in renal deaths in those patients without perineal sensation.

 

The long-term outcome of myelomeningocele was outlined in a review of 118 children with myelomeningocele who were treated nonselectively [91] . Among the 71 patients who were available for follow-up at 20 to 25 years, the following findings were noted:

• The overall mortality was 24 percent and continued to increase into young adulthood
• 86 percent of patients had undergone cerebrospinal fluid (CSF) diversion and 95 percent had undergone at least one shunt revision
• 32 percent had undergone release of tethered cord, after which 97 percent had improvement or stabilization in their preoperative symptoms
• 43 percent had undergone spinal fusion for scoliosis
• 23 percent had had at least one seizure
• 85 percent were attending or had graduated from high-school and/or college

Long-term survival may be related to the need for CSF diversion. In one review of 904 patients with myelomeningocele seen in a multidisciplinary clinic over 43 years, survival into adolescence was similar for patients with and without CSF diversion [29] . However, for patients alive at 16 years, survival after age 34 years was decreased for those with shunted hydrocephalus compared to those without a shunt.

 

Fetal surgery

In animals with a surgically created spinal defect, intrauterine closure of the exposed spinal cord tissue prevents secondary neurologic injury [92,93] . In one study in humans, intrauterine repair was performed at 24 to 30 weeks gestation in 29 patients with isolated fetal myelomeningocele [94] . The following results were reported:

• Compared to matched controls, fewer infants in the treatment group required shunt placement for hydrocephalus at 6 months of age (59 versus 91 percent)
• Compared to controls, the median age at shunt placement was later (50 versus 5 days of age)
• The incidence of hindbrain herniation was reduced (38 versus 95 percent)
• The treatment group had a higher incidence of oligohydramnios (48 versus 4 percent) and preterm contractions (50 versus 9 percent) than the control group
• The treatment group had lower mean gestational age (33.2 versus 37) and birth weight (2171 versus 3075 g) than the control group.

In a subsequent report, the same group described 116 infants who had undergone intrauterine repair of spina bifida and had postnatal follow-up of at least 12 months [95] ; 54 percent required the placement of a ventriculoperitoneal shunt by one year of age. Shunt placement was less likely to be necessary among fetuses who had a ventricular size of <14 mm at the time of surgery, who had surgery at ≤25 weeks gestation, and had defects located at or below L4 (all fetuses with defects at or above L1 required shunts).

 

In other reports, intrauterine repair did not improve lower extremity function [96] or affect the progression of ventriculomegaly [97] . This approach is not recommended until data on long-term follow-up and the results of an ongoing randomized trial are available [98].

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