title: Aicardi's syndrome: a report of four cases and review of the literature.
abstract: Four patients with Aicardi's syndrome (infantile flexion spasms, agenesis of the corpus callosum, and ocular anomalies) are reported, along with photographs of their characteristic fundus abnormalities. The etiology of the syndrome is unclear, but its occurrence exclusively in female patients suggests the possibility of a genetic factor. The ocular abnormalities of Aicardi's Syndrome are distinguishable from, but may be confused with, those of congenital toxoplasmosis and cytomegalic inclusion disease. The syndrome can be identified clinically with a high degree of certainty. Ophthalmologists who are familiar with the syndrome may be helpful in the differential diagnosis.
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D002386:Cataract / Q000150:complications; D002648:Child; D002829:Choroid / Q000098:blood supply; D003103:Coloboma / Q000150:complications; D003586:Cytomegalovirus Infections / Q000175:diagnosis; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications; D009898:Optic Disk; D010857:Pigment Epithelium of Eye; D011247:Pregnancy; D012164:Retinal Diseases / Q000150:complications; D012640:Seizures / Q000150:complications*; D013036:Spasms, Infantile / Q000150:complications*; D013577:Syndrome; D014125:Toxoplasmosis, Congenital / Q000175:diagnosis