Susac syndrome and associated diagnostic challenges: a case report

Area of Science:

• Neurology
• Immunology
• Ophthalmology

Background:

• Susac syndrome is a rare autoimmune endotheliopathy affecting small blood vessels.
• It typically presents with encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss.
• Diagnosis is often delayed due to its rarity and variable presentation, mimicking other neurological conditions.

Purpose of the Study:

• To highlight the diagnostic challenges of Susac syndrome.
• To emphasize the importance of early recognition and intervention in young patients.
• To present a case study illustrating the syndrome's complex presentation.

Main Methods:

• Case report of a 32-year-old woman with initial misdiagnosis of migraine.
• Utilized brain MRI to identify punctate hyperintense lesions suggestive of cerebral vasculitis.
• Employed retinal fluorescein angiography to confirm bilateral branch retinal artery occlusion.

Main Results:

• The patient initially presented with headaches and numbness, misdiagnosed as migraine.
• Symptoms progressed to disorientation, tinnitus, and hearing impairment.
• Diagnosis of Susac syndrome was established based on clinical and radiological findings, leading to treatment.

Conclusions:

• Early consideration of Susac syndrome in young patients with unexplained headaches and neurological symptoms is vital.
• Prompt MRI and initiation of immunosuppressive therapy are critical for effective management.
• Timely intervention can prevent irreversible damage and improve patient outcomes.