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Key Features

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Essentials of Diagnosis
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  • Various defects, ranging from anencephaly to open or skin-covered lesions of the spinal cord, may occur in isolation or as part of a syndrome

  • Myelomeningocele is usually associated with hydrocephalus, Arnold-Chiari II malformation, neurogenic bladder and bowel, and congenital paralysis in the lower extremities

  • Anomalies of the CNS, heart, and kidneys may also be seen

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General Considerations
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  • Neural tube defects comprise a variety of malformations, including anencephaly, encephalocele, spina bifida (myelomeningocele), sacral agenesis, and other spinal dysraphisms

  • Evidence suggests that the neural tube develops via closure at multiple closure sites and that each closure site is mediated by different genes and affected by different teratogens

  • Hydrocephalus associated with the Arnold-Chiari type II malformation commonly occurs with myelomeningocele

  • Sacral agenesis, also called the caudal regression syndrome, occurs more frequently in infants of diabetic mothers

  • May occur in isolation (nonsyndromic) or as part of a genetic syndrome

  • May result from teratogenic exposure to alcohol or the anticonvulsant valproate

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Clinical Findings

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  • At birth, neural tube defects can present as an obvious open lesion, or as a more subtle skin-covered lesion

  • The extent of neurologic deficit depends on the level of the lesion and may include

    • Clubfeet

    • Dislocated hips

    • Total flaccid paralysis below the level of the lesion

  • Hydrocephalus may be apparent at birth or may develop after the back has been surgically repaired

  • Neurogenic bladder and bowel are commonly seen

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Diagnosis

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  • MRI helps determine the extent of the anatomic defect in skin covered lesions

  • Urologic studies are recommended early on to define bladder function and guide management

  • Screening includes measurement of maternal serum α-fetoprotein levels at 16–18 weeks' gestation and prenatal ultrasound

  • Elevated α-fetoprotein and acetylcholine esterase levels in amniotic fluid can be detected via amniocentesis

  • Any infant with dysmorphic features or other major anomalies in addition to a neural tube defect should be evaluated by a geneticist, and a microarray analysis should be performed

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Treatment

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Neurosurgical Measures
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  • Infants with an open neural tube defect should be placed in prone position, and the lesion kept moist with sterile dressing

  • Neurosurgical closure should occur within 24–48 hours after birth to reduce risk of infection

  • Shunts are required in about 85% of cases of myelomeningocele and are associated with complications including malfunction and infection

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Orthopedic Measures
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  • The child's ability to walk varies according to the level of the lesion

  • Orthopedic input is necessary to address foot deformities and scoliosis

  • Physical therapy services are indicated

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Urologic Measures
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  • Continence can sometimes be achieved by the use of medications, clean intermittent catheterization, and a variety of urologic procedures

  • Kidney function should be monitored regularly, and an ultrasound examination should be periodically repeated

  • Symptomatic infections should be ...

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