DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20171743

Joubert syndrome related disorder (JSRD): a case report and review of literature

Seema Sharma, Ajay Sharma, Vipin Sharma, Sandesh Guleria

Abstract


Joubert syndrome and related disorder (JSRD) is a rare disorder of midline structure of brain having characteristic clinical and neuro-radiological findings. The hallmark of diagnosis is molar tooth sign (MTS). Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. We are hereby presenting a case of eight months old female infant with abnormal eye movements since birth along with developmental delay. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder. 


Keywords


Joubert, MTS, Polydactyly

Full Text:

PDF

References


Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci. 2011;6(1):44-7.

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;19:813-25.

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

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

Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, et al. Homo-zygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet. 1999;65:1666-7.

Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010;5:20.

Radheshyam P, Rajarshi B, Rituparna D, Uttara C. Association of Joubert syndrome and Hirschsprung disease. Pediatr. 2015;52:61-2.

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

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

Egger J, Bellman MH, Ross EM, Baraitser M. Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry. 1982;45:737-9.

Aslan H, Ulker V, Gulcan EM, Numanoglu C, Gul A, Agar M, et al. Prenatal diagnosis of Joubert syndrome: a case report. Prenat Diagn. 2002;22:13-6.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 1999;14:660-6.

Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. Joubert syndrome revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol. 1997;12:423-30.

Van Beek EJ, Majoie CB. Case 25: Joubert syndrome. Radiol. 2000;216:379-82.

Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet A. 2004;125A:125-34.

Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010;5:20.