Abstract
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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
