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Whipple's disease of the central nervous system(CNS)may be associated with normal intestinal histology as a result of minimal patchy involvement.The diagnosis is difficult and is frequently made postmortem.We studied 6 patients with clinically suspected CNS Whipple's disease;2 had oculomasticatory myorhythmia(OMM)fitting criteria for a diagnosis of definite CNS Whipple's disease.One of the two had duodenal histology highly suggestive of Whipple's disease;the other 5 patients had duodenal histology.DNA was extracted from paraffin embedded duodenal tissues in all patients and frozen pontine tissue in 1.Two primer pairs(W3F-W2R0)were used in separate polymerase chain reactions(PCR's)to amplify fragments of Tropheryma whippelii 16S rDNA 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 possibly refuting,a clinical diagnosis of CNS Whipple's disease in a patient with any combination of dementia,supranuclear gaze palsy, hypothalamic manifestations,myoclonus seizure,ataxia,or OMM,especially when tissue histology is unrevealing. |
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