Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review

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.