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Joubert Syndrome: A Rare Radiological Case
EP38528
Poster Title: Joubert Syndrome: A Rare Radiological Case
Submitted on 26 Mar 2022
Author(s): Ali Akhtar
Affiliations: University Hospital Coventry and Warwickshire
This poster was presented at The British Society of Paediatric Dentistry
Poster Views: 265
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Poster Information
Abstract: Joubert syndrome is a rare autosomal recessive neurodevelopmental disease characterized by abnormal breathing patterns composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, intellectual impairment, ocular impairment, renal cysts, and hepatic fibrosis. We report the case of a 4-year-old boy who presented with global developmental delay, bilateral nystagmus, and gaze instability with difficulty walking and maintaining an upright posture. A detailed examination revealed facial dysmorphic features with a depressed nasal bridge and deepened orbital sockets. Neurological examination yielded positive results for hypotonia, gait ataxia, bilateral horizontal pendular nystagmus, and a grade 1 ptosis more prominent in the right eye. However, no abnormal breathing patterns were observed in our case. Magnetic resonance imaging revealed the characteristic molar tooth sign and a batwing appearance of the fourth ventricle.Summary: JS presents with the clinical features of respiratory dysregulation, infantile hypotonia, developmental delay, nystagmus, oculomotor disturbance, and intellectual impairment. Due to the variability in clinical phenotypes, a delayed diagnosis is possible. Diagnosis requires essential diagnostic criteria in clinical history, MRI findings, and a multi-gene panel. The prototypical MRI finding is a molar tooth appearance with concomitant cerebellar vermis hypoplasia and a batwing configuration of theReferences: 1. Joubert syndrome and related disorders. Brancati F, Dallapiccola B, Valente EM. Orphanet J Rare Dis. 2010;5:20. [PMC free article] [PubMed] [Google Scholar]
2. Joubert syndrome in a neonate: case report with literature review. Bin Dahman HA, Bin Mubaireek AH, Alhaddad ZH. http:///www.ncbi.nlm.nih.gov/pmc/articles/PMC5025933/ Sudan J Paediatr. 2016;16:53–57. [PMC free article] [PubMed] [Google Scholar]
3. Joubert syndrome: imaging features and illustration of a case. Arora R. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213002/ Pol J Radiol. 2014;79:381–383. [PMC free article] [PubMed] [Google Scholar]
4. A report of Joubert syndrome in an infant, with literature review. Singh P, Goraya JS, Saggar K, Ahluwalia A. http://www.pediatricneurosciences.com/text.asp?2011/6/1/44/84407. J Pediatr Neurosci. 2011;6:44–47. [PMC free article] [PubMed] [Google Scholar]
5. Clinical and molecular features of Joubert syndrome and related disorders. [Dec;2001 ];Parisi MA. Am J Med Gen
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