AICARDI SYNDROME - A RARE NEURODEVELOPMENTAL DISORDER

Aicardi syndrome is a rare neurodevelopmental disorder identified by the French Neurologist, Dr.Jean Aicardi in 1965.The diagnostic triad of Aicardi syndrome is composed of infantile spasms, agenesis of corpus callosum and chorioretinal lacunae. Cerebral malformations like microgyria, heterotopias, intraventricular cysts and choroid plexus papillomas coexist at times.The other occasional findings are abnormalities of ribs and spine, microphthalmia, optic nerve coloboma and asymmetry of cerebral hemispheres. A significant number of females with Aicardi syndrome are normal at birth and develop normally until three months of age when infantile seizures begin.It is a rare genetic disorder and from our country only a few case reports of Aicardi syndrome have been published so far.Complete evaluation is needed for a case of agenesis of corpus callosum as there are a wide range of associated syndromes.To predict the prognosis, it is necessary to differentiate between isolated agenesis of corpus callosum and syndromic agenesis of corpus callosum. Case report -We present a case of Aicardi syndrome who had come to our hospital at 4 months of age with multiple episodes of seizures.She had been subjected to neurological evaluation and found to have agenesis of corpus callosum. Further evaluation done for other anomalies revealed the presence of chorioretinal lacunae in both eyes and coloboma of the left optic disc.The constellation of seizures, agenesis of corpus callosum and chorioretinal lacunae suggested the diagnosis of Aicardi syndrome.