A case of Aicardi syndrome

A girl infant was born after gestation of 36 weeks with birthweight of 1,812 g. Agenesis of corpus callosum was detected by computed tomography at 1 day of birth. She was examained ophthalmologically on day 37. The corneal diameter was 10 mm right and 8 mm left. The left eye was microphthalmaic. The optical media was clear. Coloboma of optic disc was found in the left eye. Both eyes showed chorioretinal lacunae suggestive of Aicardi syndrome. At 6 months of age, the baby developed infantile spasms. Electroencephalography showed hypsarrhythmia, leading to the diagnosis of Aicardi syndrome. This syndrome is a possibility when an infant shows microphthalmos, infantile spasm, or agenesis of corpus callosum.