JOUBERT SYNDROME: CLINICAL PRESENTATION AND NEUROIMAGING FINDINGS IN AN ADULT PATIENT - A CASE REPORT

Joubert Syndrome (JS) is a rare genetic disorder that affects the cerebellum and the brain stem characterized by a distinctive midbrain-hindbrain malformation, leading to a variety of neurological symptoms. This case report aims to present the clinical features and neuroimaging findings of a 35 patient diagnosed with Joubert Syndrome. This case report contributes to the understanding of the diseases variability and progression in later stages of life. Increased awareness of JS in adults is crucial for timely diagnosis, appropriate management, and genetic counseling for affected individuals and their families. Further research is needed to unravel the underlying genetic mechanisms and explore potential therapeutic interventions for this complex neurodevelopmental disorder.