Aicardi syndrome--a case report.
The Aicardi syndrome was first described by Aicardi in in 1965, which consisted of infantile spasms, defect of the corpus callosum, a characteristic lacunar chorioretinopathy, mental subnormality, and costovertebral anomalies. All patients have been female except one male case was reported in Australia. There have been approximately over 100 cases of the Aicardi syndrome reported in the literatures since 1965. The etiology of this syndrome is unknown. The most likely cause, however, is an X-linked mutational event with lethality in hemizygous male. We report a 43-day-old female infant with classic features of Aicardi syndrome including flexion spasms, dysgenesis of corpus callosum, microphthalmia, characteristic EEG, and characteristic lacunar chorioretinopathy.
J H
JH
Wang
C D
CD
Roan
K P
KP
Chang
S S
SS
Huang
C S
CS
Chi
B T
BT
Hwang
D061085:Agenesis of Corpus Callosum; D002829:Choroid; D004569:Electroencephalography; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014603:Uveal Diseases / Q000175:diagnosis / Q000235:genetics; D014960:X Chromosome