title: Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.
abstract: Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive cerebral white-matter disorder in children. Megalencephalic leukoencephalopathy with subcortical cysts is caused by mutation in the megalencephalic leukoencephalopathy with subcortical cysts gene 1. The authors report a case of a 2-year-old Tunisian boy who had presented seizure following minor head trauma. He had megalencephaly, cerebellar ataxia, and mild pyramidal signs at physical examination. Magnetic resonance imaging showed extensive white-matter signal changes involving the corpus callosum and temporal subcortical cysts consistent with megalencephalic leukoencephalopathy with subcortical cysts. The molecular genetic study of the megalencephalic leukoencephalopathy with subcortical cysts gene 1 identified a homozygous mutation C46fsX57 in the patient. The mutation was found to be heterozygous in the parents. To the best of the authors' knowledge, this mutation has never been reported.
authors.affiliation: Department of Pediatrics B of the Children's Hospital of Tunis, Tunis, Tunisia. faten.tinsa@hotmail.fr
authors.forename: Faten
authors.initials: F
authors.lastname: Tinsa
authors.forename: Olfa
authors.initials: O
authors.lastname: Farid
authors.forename: Wiem
authors.initials: W
authors.lastname: Douira
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
authors.forename: Khadija
authors.initials: K
authors.lastname: Boussetta
authors.forename: Souad
authors.initials: S
authors.lastname: Bousnina
mesh_terms: D020863:Central Nervous System Cysts / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D014416:Tunisia
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins