title: An atypical case of Aicardi syndrome with favorable outcome.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Dongguk University College of Medicine, Kyongju, Korea.
authors.forename: Seung Woo
authors.initials: SW
authors.lastname: Lee
authors.forename: Kwang Soo
authors.initials: KS
authors.lastname: Kim
authors.forename: Sung Min
authors.initials: SM
authors.lastname: Cho
authors.forename: Sun Joo
authors.initials: SJ
authors.lastname: Lee
mesh_terms: D061085:Agenesis of Corpus Callosum; D000927:Anticonvulsants / Q000627:therapeutic use; D016080:Arachnoid Cysts / Q000473:pathology*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000188:drug therapy / Q000473:pathology*; D004828:Epilepsies, Partial / Q000188:drug therapy / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D012164:Retinal Diseases / Q000473:pathology*; D013036:Spasms, Infantile / Q000188:drug therapy / Q000473:pathology*; D013577:Syndrome
chemical_list: D000927:Anticonvulsants