Prevalence of epilepsy and structural brain anomalies in spina bifida aperta

Spina bifida aperta (SBA) is frequently associated with a wide range of structural anomalies in the brain, some of these thought to be related to epilepsy. However, the relationship between these is poorly studied. This study aims to assess the prevalence of brain anomalies and epilepsy in SBA patients and explore the nature and magnitude of their association.

We conducted a retrospective cross-sectional cohort study including all consecutive postnatally treated SBA patients, managed at Erasmus MC Sophia Children's Hospital, Rotterdam from January 1st 2000 up to June 1st 2018. We determined the presence of structural brain anomalies on magnetic resonance imaging (MRI) and their association using network analysis. The presence of epilepsy was assessed through retrospective evaluation of medical records of patientsWe conducted a retrospective cross-sectional cohort study including all consecutive postnatally treated SBA patients, managed at Erasmus MC Sophia Children's Hospital, Rotterdam from January 1st 2000 up to June 1st 2018. We determined the presence of structural brain anomalies on magnetic resonance imaging (MRI) and their association using network analysis. The presence of epilepsy was assessed through retrospective evaluation of medical records of patients.

We identified 91 consecutive SBA patients, with a median age of 16.7 years. In 86 patients, the presence or absence of epilepsy could be established; epilepsy was reported in six of them (7.0%). In 75 patients, MRI brain studies were available at a median age of 15 days. Common findings included Chiari malformation type 2 (CMII) (n = 66/74; 89.2%), ventriculomegaly (n = 71/75; 94.7%), corpus callosum dysgenesis (n = 32/70; 45.7%), large massa intermedia (n = 33/75; 44.0%) and hypothalamic adhesions (n = 14/33; 42.4%). Network analysis revealed a dominant cluster of cooccurring anomalies comprising CMII, ventriculomegaly, corpus callosum dysgenesis, and a large massa intermedia.

We report on the spectrum of brain anomalies visualized on brain MRI and their cooccurrence patterns in SBA patients. Although the vast majority have structural anomalies, epilepsy was reported in only 7.0% of patients, which is lower than previously reported.