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Joubert Syndrome: A Rare Radiological Case
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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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]
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