Report of a New Case of Pentasomy X Revealed by Status Epilepticus.
Cureus
; 13(6): e16062, 2021 Jun.
Article
in En
| MEDLINE
| ID: mdl-34367739
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Cureus
Year:
2021
Document type:
Article