Megaloencephalic leukoencephalopathy with subcortical cysts

Definition:

Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, MLC can be distinguished from other conditions (ie, Alexander disease [DS:H00065], Canavan disease [DS:H00074], glutaric acidemia type I [DS:H00178]) that present in infancy with megalencephaly. An autosomal recessive mutations in the MLC1 gene have been shown to cause this condition. Recently, mutations in HEPACAM gene are reported to be associated with MLC.

References:

[1]. Bhim S Singhal, et al. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol. 2003 Sep;18(9):646-52. [Content Brief]

[2]. Rosario Maria S Riel-Romero, et al. 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. [Content Brief]

[3]. Tania López-Hernández, et al. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. 2011 Apr 8;88(4):422-32. [Content Brief]

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