Myelomeningocele, also known as spina bifida cystica, is a complex congenital spinal anomaly that results in spinal cord malformation (myelodysplasia).
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Epidemiology
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.
Clinical presentation
Patients present with lower limb paralysis and sensory loss, bladder and bowel dysfunction as well as cognitive impairment.
Pathology
Results from failure of fusion of neural tube dorsally during embryogenesis.
There is a localized defect of the closure of caudal neuropore with persistence of neural placode (open spinal cord).
Location
- lumbosacral: ~45%
- thoracolumbar: ~30%
- lumbar: ~20%
- cervical: ~2%
Risk factors
- in utero folate deficiency
- in utero teratogen exposure
Markers
Associations
- aneuploidy anomalies
- Chiari II malformation
- diastematomyelia
- syringomyelia
- arachnoid cysts 1
- hydrocephalus
- tethering of spinal cord
Radiographic features
Antenatal ultrasound
- may show evidence of an open neural tube defect with splayed or divergent posterior elements
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