Myelomeningocele

Changed by Kewal Arunkumar Mistry, 15 Mar 2015
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Myelomeningocoele (also known as spina bifida cystica) is a complex congenital spinal anomaly that results in spinal cord malformation (myelodysplasia). 

Demographics and clinical presentation

It is one of the commonest congenital CNS anomalies and thought to occur in approximately 1:500 of live births 5. There may be a slight female predilection.

Patients present with a lower limb paralysis and sensory loss, bladder and bowel dysfunction as well as cognitive impairment.

Location
  • lumbosacral: ~45%
  • thoracolumbar: ~30% 
  • lumbar: ~20%
  • cervical: ~2% 

Pathology

Results from failure of fusion of neural folds dorsally during embryogenesis. 

There is a localised defect of closure of caudal neuropore with persistence of neural placode (open spinal cord)

Risk factors
  • in utero folate deficiency
  • in utero teratogen exposure
Markers
Associations

Radiographic features

Antenatal ultrasound
  • may show evidence of an open neural tube defect with splayed or divergent posterior elements.

See also

  • -<li><a href="/articles/edward-syndrome">trisomy 18</a></li>
  • +<li><a href="/articles/edwards-syndrome-1">trisomy 18</a></li>
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