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KMID : 1197720210140030231
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대한파킨슨병 및 이상운동질환 학회지
2021 Volume.14 No. 3 p.231 ~ p.235
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Clinical and Imaging Profile of Patients with Joubert Syndrome
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Surisetti Bharath Kumar
Holla Vikram Venkappayya
Prasad Shweta
Neeraja Koti
Kamble Nitish
Yadav Ravi
Pal Pramod Kumar
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Abstract
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Objective: Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Methods: This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.
Results: Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
Conclusion: Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.
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KEYWORD
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Joubert syndrome, Molar tooth sign, Vermis hypoplasia, Facial dysmorphism, Ataxia, Movement disorders
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