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Updated: May 30, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Aicardi syndrome associated with severe congenital ptosis]
I Chabchoub1, F Kamoun, E Daoued
1Service de pédiatrie, CHU Hédi-Chaker, Sfax, Tunisie. chabchoubimen@yahoo.fr
Abstract:
Aicardi syndrome is a rare neurodevelopmental disorder characterized by corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms. We report a particular case of Aicardi syndrome characterized by the association of the classical triad of severe bilateral ptosis, pontocerebellar hypoplasia, and perisylvian polymicrogyria in a girl born to non-consanguineous parents, but whose mother suffered from idiopathic generalized epilepsy.
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