title: Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.
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.
authors.affiliation: Department of Neurology, Louisiana State University Health Sciences Center, School of Medicine, Shreveport, LA 71130-3932, USA. RRieil@lsuhc.ed
authors.forename: Rosario Maria S
authors.initials: RM
authors.lastname: Riel-Romero
authors.forename: Charles D
authors.initials: CD
authors.lastname: Smith
authors.forename: Anjana L
authors.initials: AL
authors.lastname: Pettigrew
mesh_terms: D000293:Adolescent; D020863:Central Nervous System Cysts / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D015140:Dementia, Vascular / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins