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.
Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: A case report / Tombini, M.; Marciani, M. G.; Romigi, A.; Izzi, F.; Sperli, F.; Floris, R.; DE SIMONE, Rosa; Placidi, F.; Bozzao, Alessandro. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 213:1-2(2003), pp. 83-86. [10.1016/S0022-510X(03)00148-5]
Bilateral frontal polymicrogyria and epilepsy in a patient with Turner mosaicism: A case report
DE SIMONE, Rosa;BOZZAO, ALESSANDRO
2003
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
