Aicardi syndrome

Autor: M G Greeshma, Mohandas Nair, Safi Salim
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Kerala Journal of Ophthalmology, Vol 35, Iss 1, Pp 83-85 (2023)
Druh dokumentu: article
ISSN: 0976-6677
DOI: 10.4103/kjo.kjo_107_22
Popis: Aicardi syndrome is a rare neurodevelopmental disorder occurring primarily in female children. It is thought to have X-linked dominant inheritance and the affected male foetuses do not survive to term. A 3-year-old girl child with refractory infantile spasms and corpus callosal agenesis was found to have chorioretinal lacunae in the left eye on fundus examination. A clinical diagnosis of Aicardi syndrome was made which was confirmed with intracranial imaging.
Databáze: Directory of Open Access Journals