Neuropsychiatric manifestations of Klinefelter's syndrome are heterogenous and epilepsy usually shows a benign course. We describe a 4-year-old boy with a severe epileptic encephalopathy presenting 47,XXY cariotype. Other metabolic, genetic and neuroradiological investigations were unrevealing. The random inactivation of an additional X chromosome could be responsible for the phenotype severity in this child.
Encefalopatia epilettogena grave in un bambino affetto da sindrome 47,XXY.
DI ROSA, GABRIELLA;TORTORELLA, Gaetano
2008-01-01
Abstract
Neuropsychiatric manifestations of Klinefelter's syndrome are heterogenous and epilepsy usually shows a benign course. We describe a 4-year-old boy with a severe epileptic encephalopathy presenting 47,XXY cariotype. Other metabolic, genetic and neuroradiological investigations were unrevealing. The random inactivation of an additional X chromosome could be responsible for the phenotype severity in this child.File in questo prodotto:
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