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J Child Neurol. 2005 Mar;20(3):230-4.

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

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  • 1Department of Neurology, Louisiana State University Health Sciences Center, School of Medicine, Shreveport, LA 71130-3932, USA. RRieil@lsuhc.ed


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.

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