About the Journal | Editorial Board | Instructions to Contributors | Submission & Review | Advertise with Us | Subscribe to E- Alerts
Sitemap | Feedback
Advanced search
Journal of Case Reports
Adult Onset Metachromatic Leukodystrophy
Sheema Masood Ali1, Padide Sai Geethika Reddy1, R. Kamlesh2
1Department of Clinical Pharmacy, Vaagdevi College of Pharmacy, Warangal, Telangana; 2Department of General Medicine, Kakatiya Medical College, Mahatma Gandhi Memorial Hospital, Warangal, Telangana-506002, India.
Corresponding Author:
Sheema Masood Ali
Email: sheemaaliwork@yahoo.com
Received: 05-JUL-2019 Accepted: 27-OCT-2019 Published Online: 25-NOV-2019
DOI: http://dx.doi.org/10.17659/01.2019.0064
Background: Metachromatic leukodystrophy (MLD) is a rare inherited demyelinating disease (prevalence 1:40,000) acquired by autosomal recessive defect, which involves nervous system and it is progressive, symmetrical with massive destruction of white matter in brain and spinal cord. MLD is caused by the mutation of arylsulfatase A (ARSA) and prosaposin (PSAP) genes. Case Report: A male patient of 28 years old presented with behavioral abnormalities, weakness of all four limbs (quadriplegia), and dementia like symptoms associated with neurocognitive impairment. Diagnosis was made by neuroimaging studies. Conclusion: Adult onset metachromatic leukodystrophy is slow to progress with gradual loss of muscle movement and mental coordination.
Keywords : Brain, Dementia, Metachromatic Leukodystrophy, Neuroimaging, Quadriplegia.
Article Options
Search PubMed for
Search Google Scholar for
Article Statistics
Bookmark and Share