DIAGNOSTIC GUIDELINES IN CENTRAL-NERVOUS-SYSTEM WHIPPLES-DISEASE

Many cases of central nervous system (CNS) Whipple's disease are not d iagnosed until postmortem. Few reviews of CNS Whipple's disease have d elineated the frequencies of abnormalities on neurological examination , cerebrospinal fluid studies, neuroimaging, and intestinal biopsy stu dies. Guidelines for diagnosis and treatment have not been proposed. I n this review we present 3 new cases of CNS Whipple's disease and summ arize the literature to determine the frequencies of neurological sign s and abnormalities on diagnostic testing. We propose guidelines for d iagnostic screening, selection for biopsy, and treatment. Review of th e 84 cases of CNS Whipple's disease (81 in the literature, 3 new) reve aled that 80% of the patients had systemic signs. Cognitive changes we re frequent (71%), and 47% with cognitive changes also had psychiatric signs. Oculomasticatory myorhythmia and oculo-facial-skeletal myorhyt hmia, pathognomic for CNS Whipple's disease, were present in 20% of pa tients, and were always accompanied by a supranuclear vertical gaze pa lsy. Tissue biopsy was a sensitive technique; 89% of those who had bio psies had positive biopsy results. Diagnosis and treatment of definite CNS Whipple's disease should be based on the presence of pathognomic signs (oculomasticatory myorhythmia or oculo-facial-skeletal myorhythm ia) or positive biopsy or polymerase chain reaction results. Possible CNS Whipple's disease should be diagnosed in the setting of unexplaine d systemic symptoms and neurological signs (supranuclear vertical gaze palsy, rhythmic myoclonus, dementia with psychiatric symptoms, or hyp othalamic manifestations). Those with possible CNS Whipple's disease s hould undergo small-bowel biopsy.