Dados do Trabalho

Título

Susac Syndrome: Do we need the triad?

RESUMO

Case presentation: A 35-year-old male presented with rapid onset headache and visual disturbance in may 2022. The symptoms evolved in two days with worse in the intensity of the headache, associated with vomiting, dizziness and imbalance. Physical examination revealed disorientation, confusion, amnesia and executive dysfunction. The Mini mental state examination (MMSE) score was 14. Cerebrospinal fluid analysis showed lymphocytic pleocytosis, hyperproteinorrhachia and normal glucose levels. Brain MRI disclosed supratentorial and infratentorial white matter lesions with high signal on T2-weighted imaging. Snowball lesions in the corpus callosum, leptomeningeal and linear contrast enhancement were also observed. Retinal angiography with fluorescein showed peripheral vasculitis and areas of peripheral arterial occlusion in both eyes. Audiometry was normal. After reasonable exclusion of alternative causes, the diagnosis of Susac Syndrome was made. Intravenous methylprednisolone for 5 days was started followed by Prednisone 1mg/kg/day and Azathioprine for maintenance theraphy. After the acute treatment, the patient presented marked cognitive improvement in the MMSE (22), semantic fluency and clock drawing-test. Discussion: Susac syndrome is a rare pathology, believed to be caused by autoimmune microvessels vasculitis of the brain, retina, and inner ear. These occlusions lead to the clinical triad: encephalopathy, visual disorders and hearing deficits. The occurrence of two features of the classical triad suggests the diagnosis of incomplete susac. In a review study with 304 patients, only 13% presented the triad at the clinical onset. In the disease course, in up to 21 weeks, 85% presented the complete triad. Final comments: Despite being a rare disease, a better understanding of the syndrome is needed. Neurologist should be aware that basing the diagnosis solely on the presence of complete triad may not be appropriate on the clinical onset of this disease. Once excluded alternative diagnosis and in the presence of suggestive radiological features of Susac, immunossupression treatment should be immediately considered in patients with incomplete syndrome in order to avoid further disability.

Palavras Chave

Susac Syndrome; encephalopathy; visual disorders

Área

Neuroimunologia