SPINA BIFIDA /MYELOMENINGOCELE -WHAT IS NEW?

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  EPIDEMIOLOGY AND RISK FACTORS

• The risk of a mother with 1 neural tube defect (NTD)-affected pregnancy having
  another NTD-affected pregnancy triples.
• Adequate consumption of folic acid periconceptionally can prevent 50% to
  70% of NTDs.
• Ultrasonography is a reliable method to identify NTDs by the end of the first
  trimester of gestation.

GENETICS

• NTDs are considered to be a multifactorial disorder, arising from a complex
  combination of genetic and environmental factors.
• Disruption of 3 main gene pathways has been associated with NTDs.
• FA fortification in grains has led to a significant reduction in the prevalence of
  spina bifida.

NEUROSURGICAL

• Key points
• Neurosurgical management of the patient with spina bifida is lifelong.
• Shunt malfunction may present with signs and symptoms similar to Chiari malformation,
  tethered cord, or syringohydromyelia.
• Any neurologic deterioration should begin with an evaluation of shunt function.
• Surgical treatment of hydrocephalus, Chiari malformation, tethered cord, or syringohydromyelia
  may result in stabilization of, and often improvement in,neurologic function.
• MMC repair
  The MMC can be repaired within the first 48 to 72 hours after birth without
  significant neurologic morbidity or infectious complications [39]. The operative
  technique for closure involves
• Endoscopic third ventriculostomy (ETV) has emerged as an alternative to
  shunt placement in this population, with reported overall success rates of up
  to 72%
• Symptomatic Chiari malformation can be treated surgically with cervical
  laminectomy with or without duraplasty. Foramen magnum or occipital
  bony decompression is rarely necessary
• Management of tethered spinal cord
  Overall, one-third of children with spina bifida require surgery for a tethered
  spinal cord [46]. Signs and symptoms of tethered cord include:
  Pain in the back or legs
  Deterioration in motor function or gait
  Sensory changes
  Deterioration in bowel or bladder function
  Progressive orthopedic deformities of the lower extremities or spine
  If shunt malfunction is ruled out, and there is clinical suspicion of cord tethering,
  objective measures such as manual testing of muscle strength and urodynamics
  can be obtained to confirm the diagnosis.
  Detethering the spinal cord requires opening the original surgical closure
  site, extending it cranially, and identifying the last level of formed posterior
  elements, which are removed to expose normal dura. The dura is then opened
  to identify normal spinal cord. The incision is then extended caudally to facilitate
  dissection of the scarred placode and associated nerve roots off the dura.
  Adhesions are transected until the placode is released circumferentially. The
  dura is then reapproximated and closed. The wound is subsequently closed
  in layers to minimize leakage of cerebrospinal fluid (CSF).
  Surgical outcome is excellent. Preoperative motor deficit improvement can
  be seen in 72% of patients after surgery, stabilization of deficit in 25%, and deterioration
  in 3%.
• BOWEL BLADDER SYMPTOMS
• Options to optimize bladder storage pressures now include overnight bladder
  drainage and the use of intravesical botulinum toxin injection in addition to
  clean intermittent catheterization and anticholinergic medication.
  Antegrade continence enema (ACE) irrigation times can be frustratingly long
  for some patients. The use of a left-sided ACE addresses the concern.
  The TOMAX procedure (to maximize sensation, sexuality, and quality of life) is
  a new and underused procedure for the adult male patient with poor or no
  sensation in the glans penis
• ENDOCRINE
• The hypothalamic-pituitary axis can be disrupted by hydrocephalus seen
  commonly in children with spina bifida.
• Leptin secretion may be dysregulated and related to obesity in children with
  spina bifida
• ORTHOPEDIC
• Key points
  Both congenital and acquired orthopedic deformities are commonly seen in
  children with spina bifida.
  Surgical intervention may be indicated to improve ambulation, function in
  sitting and transfers, and alignment to protect the insensate skin.
  Fractures unrelated to significant trauma are common and related to limited
  weight bearing
• REHABILITATION
• Key points
  The functional level of a child with MMC is determined primarily by their motor
  level.
  Use of orthoses and adaptive equipment such as crutches or walkers is typical
  in children with midlumbar and low lumbar MMC.
  Children at or lower than the L5 level are likely to be community ambulators
• NEUROPSYCHOLOGICAL
• Key points
  Structural brain abnormalities in spina bifida are important determinants of the
  neuropsychological profile.
  The impairments in language, mathematics, and executive functioning are not
  delayed but persist throughout life.
  Neuropsychological profiles can delineate individual phenotypes and assist in
  improving functioning and outcomes
• FOETAL REPAIR
• Key points
  Infants undergoing fetal repair of the spinal defect had a decreased need for
  postnatal ventriculoperitoneal shunt placement.
  There is an increased risk of premature delivery of the infant undergoing fetal
  repair.
  Fetal repair is predicted to be cost-effective over the course of a child’s life