[Susac Syndrome: A Diagnostic Chameleon].

Area of Science:

• Neurology
• Ophthalmology
• Otorhinolaryngology

Background:

• Susac's syndrome (SuS) is a rare autoimmune endotheliopathy affecting the central nervous system, retina, and inner ear.
• It classically presents with encephalopathy, branch retinal artery occlusions (BRAOs), and sensorineural hearing loss.
• SuS is frequently underdiagnosed and misdiagnosed, often presenting with incomplete symptoms.

Purpose of the Study:

• To highlight the diagnostic challenges and features of Susac's syndrome.
• To emphasize the importance of interdisciplinary collaboration in diagnosing and treating SuS.
• To present an exemplary case of misdiagnosis and successful treatment.

Main Methods:

• Case report of a patient initially misdiagnosed with multiple sclerosis.
• Diagnostic workup included MRI, fluorescein angiography, and optical coherence tomography.
• Treatment involved cyclophosphamide, rituximab, glucocorticoids, and acetylsalicylic acid.

Main Results:

• The patient presented with encephalopathy and sensorineural hearing loss, with BRAOs confirmed later.
• MRI revealed characteristic lesions in the corpus callosum and white matter.
• Optical coherence tomography showed significant inner retinal layer thinning.

Conclusions:

• Susac's syndrome requires consideration in the differential diagnosis of neurological, ophthalmological, and otorhinolaryngological disorders.
• Prompt diagnosis and aggressive immunosuppressive treatment are essential to prevent severe neurological deficits.
• Interdisciplinary collaboration is fundamental for optimal patient outcomes in Susac's syndrome.