By Mario Kofler, Stefan Kiechl, Raimund Helbok
01 November 2019
When cerebral white matter lesions are detected in young patients presenting with neurologic symptoms, the most likely diagnosis is multiple sclerosis (MS). Still, it is crucial to screen for important differential diagnoses which require sophisticated workup and sometimes immediate treatment, such as autoimmune encephalopathies, juvenile stroke, central nervous system (CNS) vasculitis, and, as in this case, Susac syndrome. Knowledge about key clinical and neuro-imaging features is therefore of utmost importance. Here, we report a case of a young woman presenting with encephalopathy, focal neurological deficits, and cerebral white matter lesions and discuss our diagnostic approach.
A previously healthy 30-year-old woman presented to our emergency department due to a 1-week history of progressive confusion, personality change, vertigo, and stroke-like episodes with temporary aphasia. Clinical examination revealed fine motor impairment of the left hand, bilateral pyramidal signs, and deficits in memory, attention, and executive functions. As the patient was agitated, only a brief magnetic resonance imaging (MRI) protocol (diffusion-weighted, T2 and fluid attenuated inversion recovery [FLAIR] sequences) was performed, revealing multiple supra- and infratentorial punctate diffusion-restricted lesions as well as FLAIR-hyperintense white matter lesions without evidence of restricted diffusion. In addition, the central corpus callosum revealed round (snowball), linear (spoke), and “hanging” (icicles) T2 and FLAIR-hyperintense lesions (Fig. 1, Panel A). Due to these pathognomonic imaging findings, Susac Syndrome, an immune-mediated endotheliopathy of precapillary arterioles of the brain, retina, and inner ear , was considered as the most likely differential diagnosis. The patient was admitted to our neurological intensive care unit for observation and further diagnostic workup until potentially life-threatening differential diagnoses had been excluded. Sedation or mechanical ventilation was not necessary.Read full article