Joubert syndrome: a rare disorder case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20251482Keywords:
Joubert Syndrome, Neurodevelopmental disorder, Genetic testingAbstract
Joubert syndrome (JS) is a rare neurodevelopmental disorder characterized by hypotonia, ataxia, and delayed developmental milestones. In some cases, disorders related to JS may involve other organ systems beyond the central nervous system, potentially resulting in multi-organ dysfunction. We describe a patient with pure JS who had ataxia, reduced muscular tone, and developmental delay. A provisional diagnosis was established based on the detection of the characteristic molar tooth sign on magnetic resonance imaging. Genetic testing subsequently confirmed the diagnosis. The patient was managed conservatively with supportive symptomatic treatment. Although rare, JS can present with systemic involvement affecting multiple organs, necessitating comprehensive evaluation and management. Therefore, whenever an infant exhibits the previously stated neurodevelopmental symptoms, doctors should always keep this medical condition in mind.
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Choh SA, Choh NA, Bhat SA, Jehangir M. MRI findings in Joubert syndrome. Indian J Pediatr 2009;76(2):231-5. DOI: https://doi.org/10.1007/s12098-008-0232-1
Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010;5:20. DOI: https://doi.org/10.1186/1750-1172-5-20
Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet 2009;151C(4):326-40. DOI: https://doi.org/10.1002/ajmg.c.30229
Elhassanien AF, Alghaiaty HAA. Joubert syndrome: clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol. 2013;16(2):239-44. DOI: https://doi.org/10.4103/0972-2327.112480
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. DOI: https://doi.org/10.4103/1817-1745.84407
Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders. Handb Clin Neurol. 2013;113:1879-88. DOI: https://doi.org/10.1016/B978-0-444-59565-2.00058-7
Bin Dahman HA, Bin Mubaireek AHM, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review. Sudan J Paediatr. 2016;16(1):53-7.
Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A. 2007;143A(24):3235-42. DOI: https://doi.org/10.1002/ajmg.a.32099
Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14(9):583-90. DOI: https://doi.org/10.1177/088307389901400906
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015;52(8):514-22. DOI: https://doi.org/10.1136/jmedgenet-2015-103087
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007;81(1):104-13. DOI: https://doi.org/10.1086/519026
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010;47(1):8-21. DOI: https://doi.org/10.1136/jmg.2009.067249
Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, et al. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med. 2017;19(8):875-82. DOI: https://doi.org/10.1038/gim.2016.204
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG. Joubert syndrome: report of 11 cases. Turk J Pediatr 2012;54(6):605-11.
Akcakus M, Gunes T, Kumandas S, Kurtoglu S, Coskun A. Joubert syndrome: report of a neonatal case. Paediatr Child Health. 2003;8(8):499-502. DOI: https://doi.org/10.1093/pch/8.8.499
Agarwal S, Sharma R, Gupta P, Meena A, Khan S, Patel V, et al. A rare case of Joubert syndrome in a neonate with respiratory distress and renal anomalies. J Pediatr Genet. 2022;11(2):123-8.
17. Kumar N, Sharma P, Iyer R, Patel S, Thomas A, Rao M, et al. Sibling case series of Joubert syndrome with renal and neurological involvement from a consanguineous family. Indian J Pediatr. 2023;90(4):312-6.
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