Aicardi's syndrome: A case report

Aicardi's syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. This paper presents a girl 3 years 8 months old with Aicardi's syndrome who received corticotropin therapy for intractable seizures. Brain magnetic resonance imaging (MRI) of this girl revealed typical findings of dysgenesis of the corpus callosum, hypoplasia of the inferior vermis, and obvious heterotopic nodular gray matter over the lateral wall of the left lateral ventricle. The above findings associated with the ophthalmic finding of chorioretinal lacunar defect, a clinical history of metal subnormality, and electroencephalographic pattern could be well correlated with a confident diagnosis of Aicardi's syndrome. Thus, we suggest that MRI is essential in establishing this diagnosis. In addition, while corticotropin therapy reversed the EEG abnormality, it has had no immediate effect within short-term (1-month) follow up.