Cerebral Whipple’s Disease Diagnosed Using PCR

Abstract

Background: Whipple’s disease (WD) is a rare multisystemic bacterial infection, with variable clinical manifestations occasionally involving the central nervous system. As the cultivation of the etiologic agent, Tropheryma whippelii, is difficult, a laboratory diagnosis is usually based on histological methods. In the last few years, molecular detection of the bacterial 16SrRNA genes by PCR, with 2 primer sets, has greatly contributed to the ability of clinicians to diagnose this disease. We present a cerebral case of WD in a 48-year-old male, successfully diagnosed using PCR with T. whippelii in the blood and feces. As far as we know this is the first case reported from Greece.

Methods: For the diagnosis of WD, histological examination of duodenum biopsy for diastase-resistant, non-acid fast, periodic acid Schiff (PAS)-positive inclusions in macrophages, and molecular detection of the 16SrRNA genes of T. whippelii by PCR in cerebrospinal fluid, blood, and feces, were performed.

Results: The histological detection was negative. PCR results were positive in the blood and feces of the patient and negative in the cerebrospinal fluid. Seven months after the onset of antimicrobial therapy, PCR was negative in all three clinical specimens.

Conclusions: The application of PCR proved to be an invaluable tool for the recognition, differential diagnosis and early initiation of antimicrobial therapy for the patient diagnosed with WD, a disease which is generally fatal if it remains untreated.