A 56-year-old male presented with a 2-year history of progressive neurological symptoms, including ataxia, dysarthria, and cognitive decline, initially misdiagnosed as neurodegenerative disease. Extensive workup, including brain biopsy, revealed periodic acid-Schiff (PAS)-positive macrophages, leading to suspicion of Whipple's disease. Subsequent 16S rRNA gene sequencing and PCR on brain tissue confirmed the presence of Tropheryma whipplei. The patient was successfully treated with trimethoprim-sulfamethoxazole, showing significant clinical improvement. This case highlights the importance of considering Whipple's disease in atypical neurological presentations, especially when standard diagnostics are inconclusive, and utilizing molecular methods for definitive diagnosis.
Key note: Whipple's disease can present with isolated neurological symptoms, requiring a high index of suspicion and molecular diagnostics for accurate identification.