Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.
Anticonvulsants/therapeutic use ; Arachnoid Cysts/*pathology ; Corpus Callosum/*abnormalities ; Electroencephalography ; Epilepsies, Myoclonic/drug therapy/*pathology ; Epilepsies, Partial/drug therapy/*pathology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Retinal Diseases/*pathology ; Spasms, Infantile/drug therapy/*pathology ; Syndrome

No abstract available.
Adult ; Anticonvulsants/therapeutic use ; Bone Marrow/*pathology ; Epilepsies, Myoclonic/complications/*diagnosis/drug therapy ; Female ; Gaucher Disease/complications/*diagnosis/drug therapy ; Glucosylceramidase/genetics/therapeutic use ; Humans ; Phenotype ; Point Mutation ; Recurrence