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Journal of Case Reports and Clinical Studies

ISSN: 3071-2459

Case Report Open Access

Susac syndrome in association with anti-GAD-65 antibodies 

Anas Mohammed Alamri1, Omar Sanad Aldhafeeri1, Abdullah Helal Almotairi2, Jehad Ahmed Alabdulminaim3, Abdulrahman Abullah Aljebreen4, Farah Fayez Alfayez5,*
  • 1Department of Internal Medicine, Neurology Division, Security Forces Hospital, Riyadh, Saudi Arabia
  • 2Department of Internal Medicine, Riyadh First Health Cluster, Riyadh, Saudi Arabia
  • 3Department of Ophthalmology, National Guard Hospital, Riyadh, Saudi Arabia
  • 4Department of Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • 5King Saud University, College of Medicine, Medicine and Surgery, Riyadh, Saudi Arabia
+ Affiliations - Affiliations

Corresponding Author

Farah Fayez Alfayez, Farahfayezmf@gmail.com

Received Date: November 08, 2025

Accepted Date: January 05, 2026

Citation:

Alamri AM, Aldhafeeri OS, Almotairi AH, Alabdulminaim JA, Aljebreen AA, Alfayez FF. Susac syndrome in association with anti-GAD-65 antibodies. J Case Rep Clin Stud. 2026;2(1):8-13.


Copyright: © 2026 Alamri AM, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Susac syndrome is a rare autoimmune endotheliopathy characterized by encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss (SNHL). Due to its diverse presentation, it is often misdiagnosed. We report a case of a 22-year-old female with progressive neurological symptoms, hearing loss, and cognitive dysfunction. Brain MRI revealed characteristic corpus callosum “snowball” lesions, and further investigations confirmed BRAO and SNHL. CSF analysis showed elevated protein with negative oligoclonal bands. Notably, the patient tested positive for anti-GAD65 antibodies, a finding with unclear significance in Susac syndrome. The patient was treated with high-dose corticosteroids, IVIG, and Rituximab, leading to significant neurological improvement and partial recovery of auditory function. This case highlights the importance of early recognition and aggressive immunotherapy in Susac syndrome, as well as the need for further research into the role of anti-GAD65 antibodies in this disease.

Keywords

Susac Syndrome, GAD-65, Autoimmune Endotheliopathy, Case Report

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