The Aicardi syndrome versus congenital infection: diagnostic considerations.
The Aicardi syndrome consists of agenesis of the corpus callosum, infantile spasms, a characteristic lacunar chorioretinopathy, mental subnormality, and costovertebral anomalies. All patients have been female. Its clinical similarity to several congenital intrauterine infections, particularly toxoplasmosis, is reinforced by the erroneous diagnosis of congenital infection initially made in the two patients reported here. Reasons for this confusion are outlined, and methods for a clinical differentiation between the Aicardi syndrome and the congenital infections are discussed.
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D003937:Diagnosis, Differential; D005260:Female; D006561:Herpes Simplex / Q000151:congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000151:congenital* / Q000175:diagnosis; D012164:Retinal Diseases / Q000150:complications*; D012409:Rubella / Q000151:congenital; D013036:Spasms, Infantile / Q000150:complications*; D013577:Syndrome; D013590:Syphilis, Congenital / Q000175:diagnosis; D014125:Toxoplasmosis, Congenital / Q000175:diagnosis