Joubert syndrome : a cose report

摘要

Joubert syndrome is a very rare disorder characterised by respiratory irregularities, saccadic eye movements; hypotonia, ataxia, developmental retardation with abnormalities of cerebellum and brainstem. Epilepsy is rarely associated with this syndrome. Herein such a case with associated epilepsy is presented. Here in this case, a male child of 4 years was presented with delayed milestones and generalised tonic-clonic seizure. Pregnancy and prenatal period was uneventful. There was history of one of his siblings having the disorders of respiratory irregularities, saccadic eye movements, ataxia, hypotonia, etc (same as the child) and died at 3~1/2 years of age. MRI brain showed features of Joubert Syndrome.