Annals of Clinical and Laboratory Research

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A Rare Case of Global Developmental Delay with Ataxia Joubert Syndrome

Nagesh Dasarwar and Sravya Datla 

Joubert syndrome is a rare autosomal recessive disorder characterised by developmental delay, ataxia, episodic hyperapneoa, opsoclonus associated with brainstem and cerebellar abnormalities. We describe clinical and neuroimaging features of a child with classical joubert syndrome. A 22 months old male child born of non-consanguineous marriage, presented to us with global developmental delay, hypotonia, truncal ataxia and abnormal eye movements. Birth history was uneventful. MRI brain revealed classical features of joubert syndrome. The MRI features are thickened superior cerebellar peduncles, hypoplasia of the vermis, giving it an appearance of molar tooth sign. The molar tooth sign is almost pathognomonic of joubert syndrome. The prognosis of these patients is poor with a five year survival rate of less than 50%. As the recurrence rate is 25% prenatal diagnosis should be done using serial ultrasounds and foetal MRI in second trimester. These children are sensitive to respiratory depressant effects of opiates and nitrous oxide, hence should be avoided