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Isolated central nervous system Whipple disease.

Pablo Barbero-Aznarez1, Ramon Perez-Tanoira2, Daniel Aguirre-Mollehuanca3

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Whipple disease (WD) can affect the central nervous system (CNS) exclusively, mimicking brain tumors. Early diagnosis via brain biopsy and prolonged antibiotics are crucial for managing this rare neurological infection.

Keywords:
Brain tumorCerebral massInfectionTropheryma whippleiWhipple disease

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Area of Science:

  • Neurology
  • Infectious Diseases
  • Pathology

Background:

  • Whipple disease (WD) is an infection caused by *Tropheryma whipplei*.
  • WD can manifest in classical, localized, or isolated central nervous system (CNS) forms.

Purpose of the Study:

  • To systematically review literature on WD presenting solely with neurological symptoms.
  • To describe two new cases of isolated CNS WD.

Main Methods:

  • Systematic literature search of Cochrane, Scielo, and PubMed databases.
  • Inclusion of two previously unpublished cases of isolated CNS WD.
  • Analysis of clinical presentation, neuroimaging, histopathology, and outcomes.

Main Results:

  • Two adult males presented with neurological symptoms and intracranial masses on MRI, diagnosed as WD via biopsy.
  • Literature review identified 35 cases of isolated CNS WD; median age 43.5 years.
  • Periodic-acid Schiff-stained foamy macrophages were common; oculomasticatory myorhythmia was rare. Outcomes varied, with 13 deaths and 13 improvements.

Conclusions:

  • Isolated CNS WD is a rare condition that must be considered in the differential diagnosis of CNS mass lesions.
  • Brain biopsy is essential for diagnosis.
  • Extended antibiotic therapy is critical for disease control and relapse prevention.