Familial porencephalic white matter disease in two generations

Brain Dev. 1984;6(1):54-8. doi: 10.1016/s0387-7604(84)80010-8.

Abstract

We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypodensity around the lateral ventricles without ventricular widening provides preliminary evidence of a primary disease of myelination, in the absence of histopathological confirmation. This is probably the first report of "porencephaly" which shows a pattern of autosomal dominant inheritance.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases / genetics*
  • Child
  • Cysts / genetics*
  • Epilepsy, Tonic-Clonic / genetics
  • Female
  • Hemiplegia / genetics
  • Humans
  • Hydrocephalus / genetics
  • Intellectual Disability / genetics
  • Male
  • Pedigree
  • Tomography, X-Ray Computed