Joubert Syndrome: A Case Report
Article Sidebar
Main Article Content
Abstract
Joubert syndrome (JS) is a rare genetic autosomal recessive disorder which is, heterogeneously inherited, characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. The aim of this case report is to highlight the benefits of early identification and begin early timely intervention, by a multidisciplinary rehabilitation team approach for patients of JS.
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Under Creative Commons the Authors retain ownership of the copyright for their content. The authors assign exclusive commercial re-use rights of the article to the Journal.
All open access articles published are distributed under the terms of the CC BY-NC 4.0 license (Creative Commons Attribution-Non-Commercial 4.0 International Public License as currently displayed at http://creativecommons.org/licenses/by-nc/4.0/legalcode) which permits unrestricted use, distribution, and reproduction in any medium, for non-commercial purposes, provided the original work is properly cited.
Authors agree to the open access publication policy of the Journal.
References
Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology. 1968 Mar;18(3):302-3. PMID: 5690407.
Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8; 5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230; PMCID: PMC2913941.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R et al. Age and sex prevalence estimate of Joubert syndrome in Italy. Neurology. 2020 Feb 25;94(8): e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. PMID: 31969461; PMCID: PMC7136056.
Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye
movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie. 1977;8(1):57–66. https://doi.org/10.1055/s- 0028-1091505.
Spampinato MV, Kraas J, Maria BL, et al. Absence of decussation of the superior
cerebellar peduncles in patients with Joubert syndrome. Am J Med Genet A
;146A:1389–94
Hodgkins PR, Harris CM, Shawkat FS et al. Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 2004 Oct;46(10):694-9. doi: 10.1017/s0012162204001161. PMID: 15473174.
Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol. 1997 Oct;12(7):423-30. doi: 10.1177/088307389701200703. PMID: 9373798.
Campbell S, Tsannatos C, Pearce JM. The prenatal diagnosis of Joubert's Syndrome of familial agenesis of the cerebellar vermis. Prenat Diag 1984, 4: 391-395.