title: Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.
abstract: We identified two female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while Patient 2 was followed without surgical intervention. Both patients presented with mild developmental delay and hemiparesis contralateral to the involved hemisphere. Focal seizures were observed in Patient 1, whose neuroimaging revealed posterior insular polymicrogyria in the normal sized ventricle hemisphere and retrocerebellar cyst. Both siblings displayed near absence of white matter with marked thinning of the overlying cortex in the affected hemisphere and very thin corpus callosum. Investigations revealed no other system involvement and karyotyping was normal. Normal TORCH screening in subsequent pregnancies, normal parental coagulation profile and undetectable maternal autoantibodies suggested against the possible role of extrinsic factors as an etiological factor for unilateral ventriculomegaly. Parents had normal brain imaging findings. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance.
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt. mszaki60@internetegypt.com
authors.forename: Maha S
authors.initials: MS
authors.lastname: Zaki
authors.forename: Hanan H
authors.initials: HH
authors.lastname: Afifi
authors.forename: A J
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D001927:Brain Diseases / Q000151:congenital* / Q000235:genetics*; D002675:Child, Preschool; D019066:Facies; D005190:Family; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree