Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature

  • J Child Neurol. 2005 Mar;20(3):230-4. doi: 10.1177/088307380502000301.
Rosario Maria S Riel-Romero  1 ,  Charles D Smith ,  Anjana L Pettigrew
Affiliations
  • 1. Department of Neurology, Louisiana State University Health Sciences Center, School of Medicine, Shreveport, LA 71130-3932, USA. [email protected]
PMID: 15832614 DOI: 10.1177/088307380502000301
Abstract

Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical courses typical for megalencephalic leukoencephalopathy with subcortical cysts, in whom a pair of novel mutations in the MLC1 gene was identified. We review the current knowledge of this disorder in relation to the patients reported.