Cerebral Whipple's disease diagnosed using PCR: the first case reported from Greece.
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.
Papadopoulou
Marianna
M
Department of Neurology, Medical School of Athens, Aeginition Hospital, Athens, Greece.
Rentzos
Michael
M
Nicolaou
Chryssoula
C
Ioannidou
Vassiliki
V
Ioannidis
Anastassios
A
Chatzipanagiotou
Stylianos
S
D001483:Base Sequence; D001927:Brain Diseases / Q000382:microbiology*; D017931:DNA Primers; D004269:DNA, Bacterial / Q000235:genetics / Q000302:isolation & purification; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods*; D012336:RNA, Ribosomal, 16S / Q000235:genetics / Q000302:isolation & purification; D008061:Whipple Disease / Q000175:diagnosis*
D017931:DNA Primers; D004269:DNA, Bacterial; D012336:RNA, Ribosomal, 16S