Published: 2020-09-21

Joubert’s syndrome: a case report

Kapil S. Bainade, Veeranna A. Kotrashetti, Vijay B. Sonawane, Amit Vatakar, Shuchi R. Bhatarkar


Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This syndrome is difficult to diagnose clinically because of its variable phenotype.  Signs and symptoms commonly include hypotonia abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. This condition is characterized by a specific finding on an magnetic resonance imaging (MRI) called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The exact diagnosis is often not made for several years after birth.We present a case of Joubert syndrome in a thirteen year old male with developmental delay, ataxia, mild hypotonia, nystagmus and molar tooth sign on MRI. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counselling and proper rehabilitation.


Ataxia, Joubert syndrome, Molar tooth sign, Nystagmus

Full Text:



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. Neurol. 1969;19(9):813-25.

Akcakus M, Gunes T, Kumandas S, Kurtoglu S, Coskun A. Joubert syndrome: Report of a neonatal case. Paediatrics and Child Health 2003;8(8):499-502.

Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, et al. Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14:368-76.

Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics. 1997;28(4):204-11.

Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992;43:726-31.

Parisi MA, Glass IA. Joubert syndrome. In: Gene Reviews at Gene Tests-Gene Clinics: Medical Genetics Information Resource. Seattle: Copyright, University of Washington; 1997-2006.

Choh SA, Choh NA, Bhat SA, Jehangir M. MRI findings in Joubert syndrome. Indian J Pediatr. 2009;76(2):231-5.

Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert syndrome: a clinico-radiological study. Neuroradiol. 1990;31:502-6.

Parisi M, Glass I. Joubert Syndrome and Related Disorders. Eur J Hum Genet. 2007;15(5):511-21.

Saleem S, Zaki M. Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol. 2010;31(3):424-9.