Susac syndrome accompanied by Wernicke: a rare presentation

Case presentation: A 22-year-old woman, with 9 years of schooling, with a history of chronic alcoholism, use of electronic cigarettes and illicit drugs (LSD, MDMA and cocaine), began experiencing apathy, hyporexia and headache that progressed over a period of one week with weakness of lower limbs and difficulty walking and after two weeks with dizziness, mental confusion and imbalance. On neurological examination, she presented spastic asymmetric tetraparesis with hyperreflexia, anarthria, ataxia, fluctuating consciousness and right hearing loss. Brain MRI demonstrated numerous hyperintense foci on T2/FLAIR throughout the supra and infratentorial white matter, with numerous small foci of diffuse enhancement with a non-perivascular miliary pattern, in addition to signs of supra and infratentorial leptomeningeal enhancement. The presence of high signal foci on T2/FLAIR in the corpus callosum accompanied by headache with hearing loss raised a strong suspicion for Susac syndrome. Cerebrospinal fluid (CSF) identified proteinocytological dissociation, increased CSF IgG and albumin, and absence of oligoclonal bands. Serology was negative for rheumatological analysis and infectious diseases. Given the history of long-term alcoholism combined with mental confusion and ataxia, with the presence of hyperintense lesions in the supra and infratentorial white matter, Wernicke’s syndrome hypothesis was made, and the patient underwent vitamin B1 replacement, achieving substantial motor and confusional improvement. However, the patient developed marked cognitive impairment (Montreal Cognitive Assessment - MoCA 15 points out of 30), and upon reassessment in an imaging exam 9 months later, the lesions in the corpus callosum persisted, what led us to suspect of Susac syndrome. Discussion: Susac syndrome is a rare disease characterized by the triad of encephalopathy, retinal artery occlusions and hearing loss, with an undefined pathogenesis. We report here a case of leukoencephalopathy with a radiological pattern typical of Susac syndrome, with rapid progression of cognitive decline. The syndrome is marked by presumably autoimmune retinocochleocerebral microangiopathy. The toxic-metabolic and infectious relationships are not well established, however the literature has already shown an association between cocaine use and leukoencephalopathy. CSF examination shows mild lymphocytic pleocytosis and hyperproteinorrhachia, and MRI typically shows lesions involving midline areas of the corpus callosum. Wernicke syndrome can typically present with edematous lesions that can be reversed with the use of thiamine. Final comments: This case shows an association of Wernicke’s syndrome with significant clinical and radiological improvement with the use of thiamine, and Susac syndrome with cognitive impairment and hearing loss associated with typical lesions in the corpus callosum.

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