Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.
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.
Tinsa
Faten
F
Department of Pediatrics B of the Children's Hospital of Tunis, Tunis, Tunisia. faten.tinsa@hotmail.fr
Farid
Olfa
O
Douira
Wiem
W
Rodriguez
Diana
D
Burglen
Lydie
L
Boussetta
Khadija
K
Bousnina
Souad
S
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
C425069:MLC1 protein, human; D008565:Membrane Proteins