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The Spectrum of Central Nervous System Involvement in Whipple's Disease.

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OBJECTIVE To assess the clinical spectrum of central nervous system (CNS) involvement as well as cerebrospinal fluid (CSF) and neuroimaging findings in patients with Whipple's disease (WD) and to analyze… Click to show full abstract

OBJECTIVE To assess the clinical spectrum of central nervous system (CNS) involvement as well as cerebrospinal fluid (CSF) and neuroimaging findings in patients with Whipple's disease (WD) and to analyze the association of neurological symptoms with CSF and imaging findings. METHODS Neurological involvement was retrospectively analyzed in a series of 36 patients diagnosed with WD at a single center between 1992 and 2019. Findings of 81 comprehensive CSF examinations from 36 patients, including PCRs for Tropheryma whipplei (TW) in CSF from 35 patients, were systematically evaluated. The prevalence of ischemic stroke in patients with WD was compared to a matched control cohort. RESULTS Neurological symptoms occurred in 23/36 (63.9%) patients, with cognitive, motor and oculomotor dysfunction being most frequent. TW was detected by PCR in CSF of 13/22 (59.1%) patients with and 4/13 (30.8%, p=0.0496) patients without neurological symptoms. Total CSF protein (p=0.044) and lactate (p=0.035) were moderately elevated in WD with neurologic symptoms compared with WD without. No intrathecal immunoglobulin synthesis was observed. 3/36 (8.3%) patients had hydrocephalus due to aqueductal stenosis. Patients with WD had an unexpectedly high prevalence of ischemic stroke (10/36, 27.7%) compared to matched controls (10/360, 3.2%). CONCLUSIONS Neurological involvement in patients with WD is common. Detection of TW DNA in CSF is only partly associated with neurological symptoms. Elevated CSF parameters suggest CNS parenchymal infection. Stroke is a hitherto underrecognized manifestation of WD. These findings suggest that mechanisms beyond CNS infection contribute to the spectrum of CNS involvement in WD.

Keywords: neurological symptoms; whipple disease; spectrum central; central nervous; nervous system

Journal Title: European journal of neurology
Year Published: 2022

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