Asian Journal of Pharmaceutical and Health Sciences,2013,3,1,594-596.
Type: Case Report
Joubert Syndrome (JS) is a very rare autosomal recessive genetic condition associated with agenesis/ dysgenesis of parts of brainstem and cerebellar vermis. We report a rare case of Joubert Syndrome in an eighteen month old male child. He presented with delayed neuro-developmental milestones, hypotonia, progressive abnormal lateral gaze deviation and abnormal head movements. MRI of brain stem showed the Molar Tooth sign in brainstem caused by absence of isthmic portion and deformity of fourth ventricle. On follow up, the patient improved slightly. This could be the first report of this rare developmental disorder from Eastern India.
Keywords:Hyperpnea, Hypotonia, Joubert Syndrome, Molar tooth sign, MRI
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