Aicardi syndrome.
- Author:
Paramdeep SINGH
1
;
Jatinder Singh GORAYA
;
Kavita SAGGAR
;
Archana AHLUWALIA
Author Information
- Publication Type:Case Reports
- MeSH: Agenesis of Corpus Callosum; diagnosis; Aicardi Syndrome; diagnosis; Brain; diagnostic imaging; pathology; Choroid; abnormalities; Cornea; physiopathology; Female; Humans; Infant; Magnetic Resonance Imaging; methods; Malformations of Cortical Development; diagnosis; Ophthalmoscopy; methods; Radiography; Retina; abnormalities; Spasms, Infantile; diagnosis
- From:Singapore medical journal 2012;53(7):e153-5
- CountrySingapore
- Language:English
- Abstract: Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome.