Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures

J Child Neurol. 2006 Feb;21(2):145-8. doi: 10.1177/08830738060210021701.

Abstract

Two siblings with a similar white-matter disease but different clinical symptoms are described. The first sibling suffers from nonprogressive spastic hemiparesis secondary to a congenital periventricular porencephalic cyst. Her brother has focal epilepsy. On magnetic resonance imaging, both patients show diffuse white-matter involvement predominantly of the posterior periventricular area. We suggest that this is a familial white-matter disorder with minimal symptoms and no progression in early childhood.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Central Nervous System Cysts / genetics*
  • Cerebral Ventricles / pathology*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Epilepsies, Partial / diagnosis
  • Epilepsies, Partial / genetics*
  • Female
  • Hemiplegia / diagnosis
  • Hemiplegia / genetics
  • Hereditary Central Nervous System Demyelinating Diseases / diagnosis
  • Hereditary Central Nervous System Demyelinating Diseases / genetics*
  • Humans
  • Image Enhancement*
  • Image Processing, Computer-Assisted*
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Nerve Fibers, Myelinated / pathology