Are seizures common in patients with spina bifida?

Seizures in Spina Bifida

Seizures occur in approximately 13-20% of patients with spina bifida, making them a relatively common neurological complication of this condition. 1, 2

Epidemiology and Risk Factors

• Epileptic seizures occur in about 13% of patients with spina bifida according to older studies 1, with more recent data suggesting prevalence rates of up to 20% 2
• Seizures are more common in patients with:
  • Hydrocephalus requiring shunt placement 1, 3
  • Associated brain malformations (particularly polymicrogyria, corpus callosum abnormalities) 3, 4
  • Higher-level lesions (thoracolumbar vs. lumbosacral) 1
  • Myeloschisis subtype of spina bifida 3

Pathophysiology

• Multiple mechanisms contribute to seizure development in spina bifida patients:
  • Primary cerebral malformations that occur during neural development 3, 4
  • Secondary complications related to hydrocephalus and shunt placement 1, 3
  • Metabolic disturbances (particularly in cases with associated genetic syndromes) 5
• Not all cerebral abnormalities are epileptogenic, suggesting multifactorial causes 3

Clinical Presentation and Diagnosis

• Seizure types vary widely and can include:
  • Focal seizures with or without impaired awareness 3
  • Generalized tonic-clonic seizures 3
  • Absence seizures 3
• Diagnostic workup should include:
  • Brain MRI to identify associated malformations 3, 4
  • EEG to characterize seizure type and localize epileptogenic foci 3
  • Metabolic screening if associated genetic syndrome is suspected 5

Special Considerations

• Patients with spina bifida and 22q11.2 deletion syndrome (DiGeorge syndrome) may experience both:
  • Epileptic seizures related to brain malformations 5
  • Hypocalcemia-induced seizures due to parathyroid dysfunction 5
• Cognitive function is often more impaired in spina bifida patients with seizures, particularly when associated with specific brain malformations 4

Management Approaches

• Antiepileptic medication selection should follow standard epilepsy treatment guidelines 3
• Regular monitoring of shunt function is essential as shunt malfunction can trigger seizures 1
• In patients with associated genetic syndromes:
  • Monitor calcium levels regularly if 22q11.2 deletion is present 5
  • Treat any underlying metabolic disturbances 5
• Stress management techniques may help reduce seizure exacerbations 6

Prognosis

• Seizure control is generally achievable with appropriate antiepileptic medications 5, 3
• Patients with spina bifida occulta have significantly lower rates of seizures compared to those with spina bifida aperta 3, 4
• The presence of seizures may be associated with poorer cognitive outcomes, particularly when associated with specific brain malformations 4

Common Pitfalls and Considerations

• Distinguish between epileptic seizures and other paroxysmal events that can mimic seizures 3
• Consider both structural and metabolic causes of seizures, especially in patients with genetic syndromes 5
• Monitor for medication side effects that may impact mobility or cognitive function in patients already dealing with multiple disabilities 3
• Recognize that seizure management is just one component of comprehensive care for these medically complex patients 2