Report of a New Case of Pentasomy X Revealed by Status Epilepticus
| Autor: | Nabila Chekhlabi, Hasna Hamdaoui, Nezha Dini, Amal Haoudar |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Psychomotor retardation business.industry Leukodystrophy General Engineering Karyotype pentasomy x Status epilepticus medicine.disease karyotype Epilepsy Neurology children Genetics medicine epilepsy 49 xxxxx 49 XXXXX medicine.symptom Abnormality business X chromosome |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| DOI: | 10.7759/cureus.16062 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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