ArticleCureus2024
Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.Children (Basel, Switzerland) · 2026Article
- Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review.Frontiers in pediatrics · 2026Article
- Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.Journal of neuropathology and experimental neurology · 2025Article
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Authors and funding
6 authors.
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Abstract
Joubert syndrome and related disorders (JSRD) present diagnostic challenges due to their varied clinical features. Neuroimaging, particularly MRI and CT, is critical for identifying the distinctive "molar tooth sign" and other neuroanatomical abnormalities. This case report and literature review emphasize the role of neuroimaging in diagnosing JSRD. Our search targeted pediatric cases with terms like "Joubert anomaly" and "diagnostic imaging." Key findings include cerebellar vermal agenesis, ataxia, developmental delay, and oculomotor apraxia. Cognitive impairment ranges widely, complicating assessment. CT scans reveal dysplastic or absent cerebellar vermis, while MRI shows the characteristic "molar tooth" sign and additional abnormalities such as malformed cerebellar peduncles and enlarged posterior fossa. Accurate diagnosis of JSRD depends on correlating clinical symptoms with specific radiological findings. A multidisciplinary approach is vital for managing this complex disorder.
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