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A 14-Year-Old Male With Susac Syndrome: A Case Report
M-Jaber Kojak1, Mouhammed Sleiay2, Bilal Sleiay2
1Department of Internal Medicine, Damascus University, Damascus, Syria, damascusuniversity.edu.sy.
Case Reports in Neurological Medicine
|June 22, 2026
Summary
Susac syndrome (SuS), a rare autoimmune condition, can cause severe neurological and visual deficits in children. Early diagnosis and aggressive treatment with immunotherapy, including rituximab, are crucial for managing this condition and preventing long-term complications.
Area of Science:
- Neurology
- Autoimmunology
- Ophthalmology
Background:
- Susac syndrome (SuS) is a rare autoimmune microangiopathy affecting the brain, retina, and inner ear.
- It is infrequently diagnosed in pediatric patients, highlighting the need for increased awareness and early detection to prevent irreversible deficits.
Purpose of the Study:
- To present a case of Susac syndrome in a pediatric patient.
- To discuss the diagnostic challenges and therapeutic strategies for SuS in children.
Main Methods:
- A 14-year-old male presented with neurological and visual symptoms.
- Diagnostic workup included MRI, CSF analysis, and fluorescein angiography.
- Treatment involved corticosteroids, plasma exchange, and immunosuppressive therapy with azathioprine and rituximab.
Main Results:
- MRI revealed characteristic "snowball-like" corpus callosum lesions.
- CSF analysis showed lymphocytic pleocytosis and elevated protein.
- The patient experienced relapses but achieved disease stability with rituximab and azathioprine therapy, despite initial partial response to corticosteroids and plasma exchange.
Conclusions:
- "Snowball" lesions in the corpus callosum and "string of pearls" in the internal capsule on MRI are critical for early SuS diagnosis.
- Multimodal management, including corticosteroids, plasma exchange, and long-term immunosuppression with rituximab, is essential for controlling relapses and preventing sequelae.
- Rituximab is considered a preferred agent for Susac syndrome due to the limited efficacy of azathioprine.
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