Aicardi syndrome in a genotypic male.
Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male. Thus a dominant X-linked inheritance, presumed lethal in males, has been proposed. Herein we report a 5 year-old 46 XY male with the classic clinical triad of Aicardi syndrome.
Chappelow
Aimee V
AV
Cleveland Clinic, Cole Eye Institute, Cleveland 44195, USA.
Reid
Janet
J
Parikh
Sumit
S
Traboulsi
Elias I
EI
D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D012164:Retinal Diseases / Q000235:genetics*; D012640:Seizures / Q000235:genetics; D012729:Sex Chromosome Aberrations; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome