title: Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria.
abstract: We report a case of cutis verticis gyrata-mental deficiency syndrome (CVG-MD) which was associated with drug-resistant epilepsy and bilateral occipital polymicrogyria. Genetic analysis showed an increased number of breaks at the 3p14 and 16q23 sites. We hypothesize that a deleterious factor acting at a critical period of intrauterine development could result in the cerebral malformation and in the development of CVG. Neuroradiological investigation is warranted in cases of CVG-MD.
authors.affiliation: Department of Neurology, Epilepsy Center, University Federico II, Naples, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Striano
authors.forename: P
authors.initials: P
authors.lastname: Ruosi
authors.forename: V
authors.initials: V
authors.lastname: Guzzetta
authors.forename: L
authors.initials: L
authors.lastname: Perone
authors.forename: A
authors.initials: A
authors.lastname: Manto
authors.forename: S
authors.initials: S
authors.lastname: Cirillo
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009778:Occipital Lobe / Q000002:abnormalities*; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome