Joubert syndrome is a rare autosomal recessive disorder characterised by developmental delay, ataxia, episodic hyperpnoea, opsoclonus associated with brainstem and cerebellar abnormalities. We describe clinical and neuroimaging features of a child with classical Joubert syndrome. A twenty-two 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…
