Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report.
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.
Tombini
M
M
Servizio di Neurofisiopatologia, Università di Roma Tor Vergata, Viale Oxford 81, 00133 Rome, Italy.
Marciani
M G
MG
Romigi
A
A
Izzi
F
F
Sperli
F
F
Bozzao
A
A
Floris
R
R
De Simone
R
R
Placidi
F
F
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