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Anti-Ma2-associated encephalitis with normal FDG-PET: a case of pseudo-Whipple's disease

Nature Clinical Practice Neurology volume 2, pages 566–572 (2006)Cite this article

Abstract

Background A 39-year-old man presented with a history of several months of progressive personality changes, social withdrawal, bradykinesia, mutism, dysphagia, worsening gait, and difficulty with daily living activities. Examination revealed an atypical parkinsonian appearance with incomplete supranuclear ophthalmoplegia and an unusual oculomotor disorder characterized by both low-amplitude, intermittent opsoclonus, and slow, nystagmoid intrusions.

Investigations Routine laboratory testing, autoimmune and infectious serologies, brain MRI, lumbar puncture, electroencephalogram, whole-body CT scan, paraneoplastic serologies, small bowel biopsy, 18F-fluorodeoxyglucose positron emission tomography CT scan, brain biopsy, and testicular ultrasound.

Diagnosis Anti-Ma2 paraneoplastic encephalitis in association with metastatic testicular cancer; initially misdiagnosed as CNS Whipple's disease.

Management Corticosteroids, intravenous immunoglobulins, orchiectomy, muscle relaxants, mycophenolate mofetil, plasmapheresis, and bleomycin, etoposide and platinum chemotherapy.

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Figure 1: MRI scan results for the patient.
Figure 2: Histological results of microscopic examination of the brain at autopsy.

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Acknowledgements

The patient is thanked for allowing publication of the supplementary online material, for which his written consent was obtained.

Author information

Authors and Affiliations

  1. clinical fellow in vascular neurology at Stanford University, CA

    James Castle

  2. Professor of Neurology at the University of Pennsylvania, Philadelphia, PA, USA

    Ai Sakonju

  3. resident in pediatric neurology, Johns Hopkins University, Baltimore, MD, USA

    Josep Dalmau

  4. Assistant Professor of Neurology and Otolaryngology, Johns Hopkins University, Baltimore, MD, USA

    David E Newman-Toker

Authors
  1. James Castle
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  2. Ai Sakonju
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  3. Josep Dalmau
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  4. David E Newman-Toker
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Corresponding author

Correspondence to David E Newman-Toker.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Video 1

 Video showing complex ocular motility disorder seen in patient. (MPG 29810 kb)

Video demonstrates an incomplete, mixed vertical and horizontal, supranuclear gaze palsy, with preferential restriction of upgaze, and relative sparing of pursuit, vergence, and vestibulo-ocular reflex movements. Static eyelid retraction and fluttering (myokymia) were present at rest, and exacerbated by attempted eye movements, particularly upward. At times, during such attempted movements, the upper lids appeared ptotic, rather than retracted. There were frequent, spontaneous, ocular intrusions—both saccadic and non-saccadic. The back-to-back saccadic intrusions were multivectorial (opsoclonus), but were generally low-amplitude and intermittent with the eyes at rest. During voluntary and reflexive eye movements (particularly with sustained convergence or upgaze), the amplitude and frequency of these intrusions would increase dramatically. Upper eyelid myokymia or ptosis was typically enhanced when the opsoclonic movements increased in frequency or amplitude. Occasionally the intrusive movements appeared convergent-divergent, particularly during upgaze elicited by the vertical vestibulo-ocular reflex. The non-saccadic, nystagmoid intrusions included slow movements (with or without a corrective quick phase) that were both non-rhythmic (torsional pendular) and semi-rhythmic (upward drift with downward correction). In general, a torsional pendular intrusion began with a slow movement towards the right shoulder (in both eyes, though more evident in the right eye), followed by a brief pause, followed by a slow return to primary position.

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Castle, J., Sakonju, A., Dalmau, J. et al. Anti-Ma2-associated encephalitis with normal FDG-PET: a case of pseudo-Whipple's disease. Nat Rev Neurol 2, 566–572 (2006). https://doi.org/10.1038/ncpneuro0287

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