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- Title
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.
- Authors
Riel-Romero, Rosario Maria S; Smith, Charles D; Pettigrew, Anjana L
- 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.
- Publication
Journal of child neurology, 2005, Vol 20, Issue 3, p230
- ISSN
0883-0738
- Publication type
Journal Article
- DOI
10.1177/088307380502000301