Aicardi syndrome is a very rare genetic disorder that was first identified. It was originally described as consisting of a triad of primary features: infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. The condition has been given several other names, generally by combining descriptions of the primary features (e.g., chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome or corpus callosum agenesis-ocular anomalies- salaam seizures syndrome). Modern imaging techniques have revealed that corpus callosum agenesis does not occur in all cases and that the presence of several other brain abnormalities are more characteristic of the disorder than is isolated agenesis of the corpus callosum. Severe mental and motor developmental delays usually occur, with only a limited number of affected children able to develop some language or to ambulate independently or with assistance. Additional features that may be seen include skull abnormalities; ocular abnormalities; absent or abnormal ribs; vertebral abnormalities, including scoliosis and hemivertebrae; hypotonia; unilateral hip dysplasia; telangiectasia; and recurrent pneumonia.
A rare cause of childhood seizures, resulting from the congenital absence of the corpus callosum. The disease is only found in children with two X chromosomes or in those with Klinefelter’s syndrome.