title: Joubert syndrome: a case report.
abstract: 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.
authors.affiliation: Department of Paediatrics, Pt BD Sharma Postgraduate Institute of Medical Sciences, Rohtak 124001.
authors.forename: Jagjit
authors.initials: J
authors.lastname: Singh
authors.forename: Geeta
authors.initials: G
authors.lastname: Gathwala
authors.forename: Shalini
authors.initials: S
authors.lastname: Agarwal
authors.lastname: Monika
authors.forename: N D
authors.initials: ND
authors.lastname: Vaswani
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D012160:Retina / Q000002:abnormalities / Q000473:pathology