Whipple disease: unusual presentation of a protean and sometimes confusing disease.
OBJECTIVE
To describe an unusual case of Whipple disease (WD) with confusing clinical features at onset and to discuss the diagnostic challenges for the clinician.


METHODS
Description of a new case of this rare disease and thorough discussion of the atypical clinical manifestations at onset. A literature review, concerning the unusual onset, by means of a MEDLINE search from 1966 to 2007 was done.


RESULTS
A 39-year-old man with sudden bilateral blurred vision due to retinal vasculitis and concomitant rapidly evolving symmetrical neurosensory bilateral hearing loss as initial features of WD is described. Due to the clinical manifestations resembling systemic vasculitis, high-dose corticosteroid and pulse cyclophosphamide therapy were started with subsequent appearance of gastrointestinal symptoms (diarrhea and weight loss) and spiking fever, suggesting superimposed infection. After a complete evaluation, including gastroscopy, extensive duodenal-jejunal mucosal involvement was seen, while diffuse infiltration of the duodenal lamina propria with periodic acid-Schiff-positive foamy macrophages was observed on the histological sample. The diagnosis was confirmed by reverse transcriptase-polymerase chain reaction for the DNA of Tropheryma whippelii. To our knowledge, no previous similar clinical onset of WD has been described.


CONCLUSIONS
To avoid misdiagnosis and therapeutic mistakes, clinicians should be aware of unusual presentations of WD. Because this etiological agent is a difficult to isolate bacterium, diagnosis may be especially problematic in cases without intestinal involvement at onset.
Dipartimento di Medicina Clinica e Sperimentale, Sezione di Reumatologia-Università di Ferrara, Ferrara, Italy. lmnndr@unife.it
Andrea
A
Lo Monaco
Marcello
M
Govoni
Angelo
A
Zelante
Rosa
R
Rinaldi
Anna Rita
AR
Scorrano
Michele
M
Di Stefano
Francesco
F
Trotta
D000328:Adult; D003967:Diarrhea / Q000188:drug therapy / Q000382:microbiology; D005773:Gastroscopy; D006312:Hearing Loss, Bilateral / Q000188:drug therapy / Q000382:microbiology*; D006801:Humans; D008297:Male; D031300:Retinal Vasculitis / Q000188:drug therapy / Q000382:microbiology*; D054851:Tropheryma / Q000302:isolation & purification*; D015431:Weight Loss; D008061:Whipple Disease / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy