Joubert syndrome is an inherited autosomal recessive trait that affects many parts of the body. However, in some cases Joubert’s syndrome appears to be sporadic. The classic clinical presentation is a child with developmental delay, ataxia, and oculomotor and respiratory abnormalities. Neonates may exhibit nystagmus, alternating apnea and hyperpnea, and seizures.

Molar tooth sign and complete or almost complete aplasia of the vermis are neuro imaging hallmarks of Joubert’s syndrome.

We present you a case of Joubert’s syndrome in 8year old who came with the complaint of intractable seizure and ataxia and who on examination had nystagmus and hypotonia.

Keywords: jouberts syndrome, sporadic, congenital anomaly, neuroimaging.

1. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology. 1969 (19) 813–825.
2. Sztriha L, Al-Gazali LI, Aithala GR, et al. Joubert’s syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol 1999; 20: 274–281.
3. Osborn AG. Posterior Fossa Malforma-tions In: Osborn's Brain: Imaging, Pathology, and Anatomy. Salt Lake City, Utah: Amirsys, 2013; 1077-1078.
4. Rehmanurimaad, Bett Zablon et al ,The ‘Molar Tooth Sign’ in Joubert Syndrome, case report, J Pak Med Association, December 2009, volume 59 number 12,851-853.
5. McGraw Peter, MD, The molar tooth sign,RSNA, Radiology December 2003; 229:671–672
6. Brancati F et al: Joubert Syndrome and related disorders. Orphanet J Rare Dis. 5:20, 2010doi: Jul 8;5:20.10.1186/1750-1172-5.

Dr Divya Kant

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