Bilateral periventricular and subcortical heterotopia in a man with refractory epilepsy

Epilepsia. 2000 Mar;41(3):352-4. doi: 10.1111/j.1528-1157.2000.tb00167.x.

Abstract

Purpose: To report a novel malformation in a male subject with refractory partial seizures.

Methods: Magnetic resonance imaging (MRI) and data reformatting in a subject referred for management of partial seizures.

Results: The patient had four distinct partial seizure types, without learning disability. MRI demonstrated the novel association of bilateral laminar subcortical heterotopia, bilateral temporal periventricular heterotopia, and hippocampal malformation.

Conclusions: This previously unreported complex bilateral neocortical and archicortical malformation in a male patient cannot be explained by known genetic causes of heterotopia, raising the possibility of a novel gene involved in brain formation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain Diseases / diagnosis*
  • Cerebral Cortex* / abnormalities
  • Cerebral Ventricles*
  • Choristoma / diagnosis*
  • Choristoma / genetics
  • Epilepsies, Partial / diagnosis*
  • Epilepsies, Partial / genetics
  • Female
  • Functional Laterality
  • Hippocampus / abnormalities
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / genetics
  • Phenotype