Aicardi Syndrome: A Rare Childhood Disorder

Abstract

Aicardi syndrome represents a complex disorder that affects many systems and is typically associated with agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. Patients are almost all female, suggesting a genetic abnormality of the X chromosome (it may be lethal in males during fetal life). The presenting case was an 8 months 21 days old girl who had complaints of convulsion which started at the age of 3 months. The convulsion was generalized and tonic in nature and occurred 3 to 4 times daily with an up rolling of eyeball and lasted for 5 minutes. Post-ictally the child becomes active. It was not associated with fever or vomiting. On examination there were markedly delayed developmental milestones, tour shaped forehead, small head, closed fontanelles and cranial sutures, depressed nasal bridge, frequent protrusion of tongue and high arched palate. On investigation, CT scan of the brain showed partial agenesis of corpus callosum and bilateral ventriculomegaly. EEG reports are consistent with severe epileptic encephalopathy with modified hypsarrhythmia, and karyotyping report was normal. Drug choice was vigabatrin which is not available in our country. The patient was treated with Inj. ACTH for 3 months and oral levetiracetam and phenobarbitone. Seizure was controlled only for 3months during ACTH injection thereafter, frequent seizure episode.