Aicardi syndrome: a variant example with new clinical findings.
Aicardi syndrome, which shows X-linked dominant inheritance, is characterized by corpus callosum agenesis, infantile spasms, chorioretinitis, chorioretinal lacunae, psychomotor retardation, microphthalmy, cerebral atrophy and vertebral abnormalities. A 3/12 year-old girl with Aicardi syndrome who has dilated right lateral ventricle and leucomalacy in the right frontal lobe on magnetic resonance imaging (MRI) is presented. As far as we know, this combination of symptoms was not described previously in the literature.
Gedik
Y
Y
Department of Pediatrics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Erduran
E
E
Aslan
Y
Y
Soyluf
H
H
Mocan
H
H
Demirci
A
A
D061085:Agenesis of Corpus Callosum; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D003560:Cysts / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities* / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome