Siblings with cystic leukoencephalopathy and megalencephaly

Yalcinkaya C., Comu S., Kocer N., Yuksel A., Gunduz E., Demirbilek V., ...More

JOURNAL OF CHILD NEUROLOGY, vol.15, no.10, pp.690-693, 2000 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 10
  • Publication Date: 2000
  • Doi Number: 10.1177/088307380001501010
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.690-693
  • Istanbul University Affiliated: Yes

Abstract

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family.