POLYMERASE CHAIN REACTION-BASED DETECTION OF TROPHERYMA-WHIPPELII IN CENTRAL-NERVOUS-SYSTEM WHIPPLES-DISEASE

Whipple's disease of the central nervous system (CNS) may be associate d with normal intestinal histology as a result of minimal or patchy in volvement. The diagnosis is difficult and is frequently made post mort em. We studied 6 patients with clinically suspected CNS Whipple's dise ase; 2 had oculomasticatory myorhythmia (OMM) fitting criteria for a d iagnosis of definite CNS Whipple's disease. One of the 2 had duodenal histology highly suggestive of Whipple's disease; the other 5 patients had normal duodenal histology DNA was extracted from paraffin-embedde d duodenal tissues in all patients and frozen pontine tissue in 1. Two primer pairs (W3F-W4R, W3F-W2R) were used in separate polymerase chai n reactions (PCRs) to amplify fragments of Tropheryma whippelii 16S rD NA from these tissue samples. PCR amplicons were detected only in the duodenal tissues from the 2 patients with OMM. The sequences of these amplicons were identical to the corresponding region of the previously published Tropheryma whippelii 16S rDNA sequence. PCR-based assays of intestinal or brain tissue may be of value for confirming, and possib ly refuting, a clinical diagnosis of CNS Whipple's disease in a patien t with any combination of dementia, supranuclear gaze palsy, hypothala mic manifestations, myoclonus, seizures, ataxia, or OMM, especially wh en tissue histology is unrevealing.