%0 Case Reports
%T Report of a New Case of Pentasomy X Revealed by Status Epilepticus.
%A Chekhlabi N
%A Haoudar A
%A Hamdaoui H
%A Dini N
%J Cureus
%V 13
%N 6
%D Jun 2021
%M 34367739
暂无%R 10.7759/cureus.16062
%X This report describes an exceptional case of X (49, XXXXX) pentasomy in a girl aged three years and five months. She was admitted for recurrent seizures revealing epilepsy. She has growth failure and psychomotor retardation with a deformed face. The malformative assessment did not show any malformation apart from cerebral leukodystrophy. Pentasomy X is a very rare abnormality of the sex chromosomes. It only affects females, in whom three additional X chromosomes are added to the two X normally present. The pathogenesis of pentasomy X is not exactly clear, but it is probably caused by successive maternal nondisjunctions. Epilepsy and cerebral leukodystrophy are a new mode of revelation of this syndrome, never described in the literature.