| Joubert syndrome: a case report. | |
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MedLine Citation:
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PMID: 22187775 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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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Authors:
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Jagjit Singh; Geeta Gathwala; Shalini Agarwal; Monika; N D Vaswani |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of the Indian Medical Association Volume: 109 ISSN: 0019-5847 ISO Abbreviation: J Indian Med Assoc Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-12-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7505608 Medline TA: J Indian Med Assoc Country: India |
Other Details:
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Languages: eng Pagination: 348-9 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Pt BD Sharma Postgraduate Institute of Medical Sciences, Rohtak 124001. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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