Author Of 1 Presentation
P0266 - Susac syndrome: A rare cause of encephalopathy (ID 1544)
Abstract
Background
Susac Syndrome is a rare disease affecting brain, inner ear and retinal microvasculature thought to be immune mediatied. Clinical triad consists of encephalopathy, branch retinal artery occlusions (BRAO) and hearing loss. This triad is not always initially observed delaying diagnosis.
Objectives
Describe a rare presentation of Susac Syndrome recognizing the importance and difficulty of early diagnosis/management.
Methods
Describe a rare presentation of Susac Syndrome recognizing the importance and difficulty of early diagnosis/management.
Results
37-year-old female with hypertension and hyperlipidemia presented to an outside hospital with 2 month history of progressive headaches, confusion and gait difficulties. Initial MRI brain demonstrated diffuse gyriform enhancement and acute lacunar infarcts involving bilateral frontoparietal lobes and corpus callosum. LP was remarkable for lymphocytic pleocytosis. CT angiogram head/neck and infection/malignancy screening was negative. She was diagnosed with ADEM and completed high dose Solumedrol. Subsequent deterioration led to transfer to Medical University of South Carolina. Review of outside images was concerning for other etiologies including Susac Syndrome. Repeat LP remained with lymphocytic pleocytosis, elevated protein and no unique bands. Interim MRI brain for worsened encephalopathy showed new bilateral punctate infarcts strongly suggestive of vasculitis. Cyclophosphamide was started and Asprin continued for vascular prophylaxis. Repeat conventional angiogram and EEG monitoring was normal. Brainstem Auditory Evoked Responses (BAER) and Flourescien Angiogram (FA) were unremarkable. Biopsy of right frontal leptomeninges and parenchyma did not show vasculopathy or lymphoma. Repeat MRI revealed increased burden of punctate infarcts and IVIG was trialed with minimal response. Given poor clinic picture, Rituximab was initiated for what was thought to be refractory small vessel vasculitis. The patient was transferred to another tertiary care center for a second opinion. Diagnosis of presumed Intravascular Lymphoma was made and she underwent 2 cycles of Cytarabine, High Dose-Methotrexate, Rituximab combination therapy. MRI following cycle 1 showed resolution of previous parenchymal lesions and improvement of prior enhancement. MRI following cycle 2 showed no changes. She developed decubitus ulcers and prolonged cytopenia. Chemotherapy was paused and she was transferred back to our facility.
Conclusions
The case was discussed with our multidisciplinary Tumor Board. On further review of data including pathology without evidence of lymphoma and pathognomonic corpus callosum lesions on imaging, the diagnosis of Susac Syndrome was favored. She continued on Rituximab. Prior to discharge, multiple bilateral BRAO were observed on repeat FA with normal BAER testing. Current functionality and cognition continues to improve.