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. (C) 2003 Elsevier B.V All rights reserved.
Tombini, M., Marciani, M.g., Romigi, A., Izzi, F., Sperli, F., Bozzao, A., et al. (2003). Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report. JOURNAL OF THE NEUROLOGICAL SCIENCES, 213, 83-86 [10.1016/S0022-510X(03)00148-5].
Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: a case report
MARCIANI, MARIA GRAZIA;FLORIS, ROBERTO;PLACIDI, FABIO
2003-01-01
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. (C) 2003 Elsevier B.V All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
