title: Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report.
abstract: Turner's syndrome (TS) is rarely associated with serious abnormalities of brain structure or malformations of cortical development. We report a 17-year-old girl with TS and 45,XO/46,XX mosaicism presenting bilateral frontal polymicrogyria (BFP) and epilepsy. To our knowledge, the association between TS and BFP has never been reported to date. Our observation confirms that in humans the X-chromosome plays an important role in the development and specialization of brain structure and function. We hypothesize that the absence or abnormalities of developmental genes localized on the X-chromosome could be involved in the pathogenesis of BFP observed in our patient.
authors.affiliation: Servizio di Neurofisiopatologia, Università di Roma Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Tombini
authors.forename: M G
authors.initials: MG
authors.lastname: Marciani
authors.forename: A
authors.initials: A
authors.lastname: Romigi
authors.forename: F
authors.initials: F
authors.lastname: Izzi
authors.forename: F
authors.initials: F
authors.lastname: Sperli
authors.forename: A
authors.initials: A
authors.lastname: Bozzao
authors.forename: R
authors.initials: R
authors.lastname: Floris
authors.forename: R
authors.initials: R
authors.lastname: De Simone
authors.forename: F
authors.initials: F
authors.lastname: Placidi
mesh_terms: D000293:Adolescent; D004827:Epilepsy / Q000209:etiology* / Q000473:pathology; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities / Q000473:pathology*; D006801:Humans; D009030:Mosaicism / Q000473:pathology* / Q000503:physiopathology*; D014424:Turner Syndrome / Q000150:complications* / Q000473:pathology