Isolated central nervous system Whipple disease

Abstract

Background: Whipple disease (WD) is an infection caused by Tropheryma whipplei, which might present in three different forms: classical, localized, and isolated in the central nervous system (CNS).

Methods: We report the result of a systematic review of the literature on WD unusually presenting with exclusively neurological symptoms, including two previously unpublished cases. A description of two cases with isolated CNS WD was performed, as well as a literature search in Cochrane, Scielo, and PubMed.

Results: Two male adult patients presented with exclusively neurological symptomatology. Both magnetic resonance imaging (MRI) showed an intracranial mass suggestive of brain tumor. The histopathological examination was consistent with WD, with no systemic involvement. In the review of the literature, 35 cases of isolated CNS WD were retrieved. The median age at diagnosis was 43.5 (IQR 31.5-51.5). In 13 patients, the MRI showed a brain mass consistent with a brain tumor. The most common finding in the biopsy was the periodic-acid Schiff-stained foamy macrophages. Only five cases presented the pathognomonic sign of oculomasticatory myorhythmia. Thirteen cases had an adverse outcome that resulted in death during follow-up, whereas another 13 improved. The other nine patients remained stable or presented moderate improvement.

Conclusion: Isolated CNS WD is a rare disease that should be considered among the differential diagnosis of CNS mass lesions. Brain biopsy is necessary to establish the diagnosis. It is stressed in the literature that an extended antibiotic course is required to prevent relapses and to control the disease.

Keywords: Brain tumor; Cerebral mass; Infection; Tropheryma whipplei; Whipple disease.

Figure 1:

Coronal section of a magnetic resonance imaging showing a left, solid, infiltrating, expansive, temporoparietal 4 cm mass, suggestive of a periventricular glial tumor.

Figure 2:

×100 magnification. The samples were composed mainly by white matter and revealed an extensive infiltration by many perivascular foamy histiocytes which were immunoreactive for CD68 and CD163 and showed excentric, large, and “bean-like” nucleus within a wide, granular, and eosinophilic cytoplasm. PAS staining revealed intense and granular staining in the cytoplasm of the histiocytes. Zhiel staining was negative. Other findings of relevance were the presence of gliosis and small clusters of mature lymphocytes. No signs of malignancy were found.