Diagnostic guidelines in central nervous system Whipple's disease

Abstract

Many cases of central nervous system (CNS) Whipple's disease are not diagnosed until postmortem. Few reviews of CNS Whipple's disease have delineated the frequencies of abnormalities on neurological examination, cerebrospinal fluid studies, neuroimaging, and intestinal biopsy studies. Guidelines for diagnosis and treatment have not been proposed. In this review we present 3 new cases of CNS Whipple's disease and summarize the literature to determine the frequencies of neurological signs and abnormalities on diagnostic testing. We propose guidelines for diagnostic screening, selection for biopsy, and treatment. Review of the 84 cases of CNS Whipple's disease (81 in the literature, 3 new) revealed that 80% of the patients had systemic signs. Cognitive changes were frequent (71%), and 47% with cognitive changes also had psychiatric signs. Oculomasticatory myorhythmia and oculo-facial-skeletal myorhythmia, pathognomic for CNS Whipple's disease, were present in 20% of patients, and were always accompanied by a supranuclear vertical gaze palsy. Tissue biopsy was a sensitive technique; 89% of those who had biopsies 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 myorhythmia) or positive biopsy or polymerase chain reaction results. Possible CNS Whipple's disease should be diagnosed in the setting of unexplained systemic symptoms and neurological signs (supranuclear vertical gaze palsy, rhythmic myoclonus, dementia with psychiatric symptoms, or hypothalamic manifestations). Those with possible CNS Whipple's disease should undergo small-bowel biopsy.

Whipple's disease with neurological manifestions: case report

“…Systemic manifestations are generally the presenting features of WD.Abdominal complaints, recurrent arthropathy and longstanding fever are particularly common and precede diagnosis for a few years. However, any organ can be involved and there are reports of myocarditis/endocarditis 5,6 , polyserositis 2 , hepatosplenomegaly 2 and uveitis 7 .According to Louis et al 8 , around 80% of CNS WD patients have systemic signs or symptoms at diagnosis.Therefore, in the appropriate clinical setting, considering WD in a patient with neurological deficits can be important. CNS involvement was first described in 1958 9 and much knowledge has emerged since then.…”

“…Recent review articles 3,8 suggest that almost half of WD patients have indeed evidence of CNS dysfunction. These manifestations are quite diverse and traditionally include OMM, cognitive changes, voluntary gaze abnormalities, pyramidal signs, sensory deficits, hypothalamic manifestations, cranial nerve abnormalities, ataxia and seizures.…”

“…Some affected individuals become virtually unable to look up or down at last and may receive a diagnosis of progressive supranuclear palsy (PSP). Isolated horizontal supranuclear gaze palsy is extremely uncommon, but combined impairment in both directions (horizontal and vertical) is frequently seen 8 . It is also interesting that all cases presenting OMM had vertical supranuclear palsy.…”

“…Pyramidal and sensation deficits are other signs of CNS derangement recorded in WD, just as myoclonus and seizures, which are noticed in almost one fourth of patients.Additionally, gait and stance instability related to cerebellar damage occur in 20% of patients, being a major source of functional impairment 8 . A few cases presenting with rapidly evolving cranial hypertension were reported, most of them caused by tumorlike lesions or acute hydrocephalus (Sylvius aqueduct stenosis) 3,11 .…”

Trabalho de consenso de força-tarefa da WFSBP sobre marcadores biológicos das demências: contribuição da análise do LCR e do sangue para o diagnóstico precoce e diferencial das demências

“…Entre os pacientes com acometimento do SNC, até 71% dos casos desenvolvem alterações cognitivas (Louis et al, 1996). Os sinais da infecção sistêmica incluem problemas gastrointestinais, perda de peso e artrite, e os sintomas da infecção do SNC incluem também paralisia supranuclear, alteração do nível de consciência e distúrbios dos movimentos (Louis, 2003).…”