Joubert syndrome: a case report
Singh, J.; Gathwala, G.; Agarwal, S.; Monika; Vaswani, N.D.
Journal of the Indian Medical Association 109(5): 348-349
2011
ISSN/ISBN: 0019-5847 PMID: 22187775 Document Number: 13277
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.
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