Whipple disease

Peter K Panegyres MD PhD (Dr. Panegyres, Director of Neurodegenerative Disorders Research Pty Ltd, has no relevant financial relationships to disclose.)
John E Greenlee MD, editor. (Dr. Greenlee of the University of Utah School of Medicine received an honorarium from Merck for authorship.)
Originally released December 9, 2003; last updated May 20, 2017; expires May 20, 2020

Overview

Whipple disease is a treatable, multisystem disease caused by infection with Tropheryma whipplei. Primarily considered a gastrointestinal disorder, the organism also invades joints, heart, skin, eyes, and the endocrine and nervous system, and, rarely, Whipple disease of the brain may occur as a primary neurologic disorder without multisystem involvement. Cognitive changes, supranuclear gaze palsy, altered consciousness, myoclonus, seizures, and ataxia occur. Oculomasticatory myorhythmia and oculofacioskeletal myorhythmia are pathognomonic signs. Isolated Whipple disease also mimics glioma. PET studies are useful in evaluating atypical MRI; diffusion restriction might also be a useful marker of progression and response to treatment. The author of this article emphasizes the importance of molecular techniques, particularly polymerase chain reaction, to identify and confirm the diagnosis and evaluate therapy. Antibiotic treatment results in improvement with a sustained remission in the majority of patients.

Key points

 

• Whipple disease of the central nervous system may be primary (ie, without evidence of disease outside of the brain) or secondary, occurring in the context of a multi-system condition.

 

• The neurologic features of primary and secondary Whipple disease of the brain are diverse and overlap.

 

• Molecular techniques, in particular, PCR on CSF and bloods are essential to the diagnosis.

 

• Antibiotics can successfully treat Whipple disease of the brain and prevent fatal infection.

Historical note and terminology

Whipple disease is caused by Tropheryma whipplei (T whipplei) and was first described in 1907.

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