title: Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts.
abstract: We report on an apparently new syndrome in a consanguineous family with seven members, three of whom have cerebral anomalies including pachygyria and arachnoid cysts along with mental retardation and seizures. The two patients with seizure disorders also had multiple enlarged perivascular spaces seen in the white matter of the centrum semiovale. Our data provide a contribution to the accumulating knowledge on familial cerebral anomalies including arachnoid cysts and lissencephaly. Given the lack of mutation in known lissencephaly genes such as LIS1, 14-3-3epsilon, and DCX, this syndrome may constitute a new phenotype with autosomal recessive inheritance.
authors.affiliation: Department of Neurosurgery, Dicle University, Diyarbakir, Turkey.
authors.forename: Aslan
authors.initials: A
authors.lastname: Guzel
authors.forename: Mehmet
authors.initials: M
authors.lastname: Tatli
authors.forename: Kaya
authors.initials: K
authors.lastname: Bilguvar
authors.forename: Michael L
authors.initials: ML
authors.lastname: Diluna
authors.forename: Betul
authors.initials: B
authors.lastname: Bakkaloglu
authors.forename: Ali K
authors.initials: AK
authors.lastname: Ozturk
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayrakli
authors.forename: Murat
authors.initials: M
authors.lastname: Gunel
mesh_terms: D016080:Arachnoid Cysts / Q000235:genetics* / Q000473:pathology; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013687:Telencephalon / Q000002:abnormalities* / Q000473:pathology