A Rare Congenital Cause of Epilepsy

Enlarged parietal foramina (PFM) are congenital calvarial defects characterized by bilateral parietal bone defects (>5 mm), occurring on each side of the sagittal suture along its posterior aspect. While often lacking underlying intracranial malformations, there has been increasing recognition of coexisting brain malformations in certain subtypes. We present a case of a 12-year-old girl presenting with new-onset grand mal seizure with developmental delay and a known family history of epilepsy. Brain MRI revealed large, bilateral parietal bone defects with underlying cortical malformation (polymicrogyria and ulegyria) and vascular abnormalities (persistent falcine sinus), related to PFM. This case report describes the genetic basis for recognized subtypes of PFM and the rare association of brain malformations associated with PFM due to mutations in the ALX4 homeobox gene.