Central nervous system involvement in Whipple's disease: Report of a rare pathological entity and comparative review of treatment strategies and outcomes

Abstract

Whipple's disease, caused by the gram-positive actinomycete Tropheryma whipplei, is a rare chronic systemic illness with significant diagnostic and therapeutic challenges, particularly when the CNS is involved. This case report details a 46-year-old man presenting with a constellation of symptoms including fatigue, hypersomnia, weight loss, bifrontal headaches, abdominal pain, treatment-unresponsive diarrhea, and skin hyperpigmentation. Neurological examination revealed oculomasticatory myorhythmia, and imaging studies showed nodular enhancement of the hypothalamus and basal ganglia, along with retroperitoneal lymphadenopathy. Diagnosis was confirmed through duodenal biopsy with PAS staining and PCR analysis. The patient was successfully treated with a combination of intravenous ceftriaxone followed by oral doxycycline and hydroxychloroquine, resulting in significant symptom improvement and full recovery of neurological function. This case underscores the importance of early, aggressive treatment and provides a comprehensive review of the current literature on Whipple's disease with CNS involvement, including a comparison of treatment regimens and outcomes.