A Young Woman With Susac Syndrome: A Case Report

Provide a well-documented case to help other clinicians recognize Susac syndrome, enabling earlier diagnosis and better patient outcomes.

Military Hospital in Tunisia

A 36-year-old female with no significant medical history presented with sudden-onset gait disturbances, behavioral changes, and persistent headaches accompanied by tinnitus. Initial neurologic evaluation prompted hospital admission and revealed signs consistent with Susac syndrome. Comprehensive ophthalmologic examination identified bilateral peripheral occlusive retinal vasculitis with multifocal branch retinal artery occlusions. Notable findings included vascular ghost vessels and scattered Gass plaques along retinal arterioles, alternating with segments of normal vascular wall morphology. Visual acuity was preserved at 10/10 in both eyes, despite significant central and paracentral visual field loss in the left eye.

Ancillary testing confirmed the diagnosis. OCT demonstrated perifoveal ischemic changes, and fluorescein angiography revealed non-perfused areas and late vascular leakage. MRI showed characteristic hyperintensities within the white matter, cerebral cortex, corpus callosum, and basal ganglia, supporting the diagnosis of encephalopathy.The patient was treated with systemic corticosteroids (1 mg/kg/day), with a gradual tapering schedule, which led to stabilization of symptoms. Multidisciplinary care, including neurology and otolaryngology consultations, ensured comprehensive management. Despite treatment, residual visual field defects persisted.

This case underscores the need for heightened clinical suspicion for Susac syndrome in young female patients presenting with unexplained visual field defects, neurological symptoms, and systemic signs. The distinct retinal findings, particularly the Gass plaques and vascular occlusions, provide critical diagnostic clues. A multidisciplinary approach is vital to ensure accurate diagnosis, timely intervention, and optimal patient outcomes.