title: [Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases].
abstract: Megalencephalic leukoencephalopathy with subcortical cysts or Van der Knapp disease is a rare entity that has recently been identified. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. The culprit MLC1 gene is located on chromosome 22. MRI provides valuable data for diagnosis characterized by diffuse white matter lesions with subcortical cysts. We report four cases of megalencephalic leukoencephalopathy with subcortical cysts from two different families.
authors.affiliation: Service de Radiologie, CHU Tahar Sfar Mahdia, Tunisia. saidajerbi@topnet.tn
authors.forename: S
authors.initials: S
authors.lastname: Jerbi Omezzine
authors.forename: H
authors.initials: H
authors.lastname: Ben Ameur
authors.forename: R
authors.initials: R
authors.lastname: Bousoffara
authors.forename: A
authors.initials: A
authors.lastname: Ayedi
authors.forename: H A
authors.initials: HA
authors.lastname: Hamza
authors.forename: M T
authors.initials: MT
authors.lastname: Sfar
mesh_terms: D001284:Atrophy; D001479:Basal Ganglia / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male