Oculomasticatory Myorhythmia

This article was originally co-authored on EyeWiki (AAO) with Dr. Karl C. Golnik (Professor and Chairman of the Department of Ophthalmology at the University of Cincinnati, Cincinnati Eye Institute) on August 5th, 2016. Due to the nature of EyeWiki, revisions or edits can be made by other ophthalmologists, so for the most up to date version of this article, please visit the EyeWiki on Oculomasticatory Myorhythmia.

Introduction

Oculomasticatory myorhythmia (OMM) is a pathognomonic manifestation of Whipple’s disease of the central nervous system. It is characterized by smooth, continuous, slow (1-3 Hz), pendular, convergent-divergent nystagmus, concurrent contractions of the masticatory muscles, supranuclear vertical gaze palsy, and occasionally, rhythmic movements of the limbs (see video in Media below). It differs from other forms of pendular nystagmus in that it is smooth and continuous with a high amplitude and slow frequency. These eye movements may persist during sleep.1,2,3,4

The term OMM is sometimes used interchangeably with oculo-facial-skeletal myorhythmia (OFSM). The two conditions are almost identical except that OFSM also involves rhythmic movements of the proximal and distal skeletal muscles. In fact, the term OFSM was first used in a case of OMM with skeletal muscle involvement.5 Both OMM and OFSM are pathognomonic for Whipple’s disease.

Pathogenesis & Epidemiology

Whipple’s disease is a rare systemic disorder that primarily affects the gastrointestinal system causing malabsorption, although it can affect any part of the body. It often presents with symptoms of weight loss, steatorrhea, arthralgia, fever, and sometimes, neurologic findings like dementia and somnolence. It is caused by the bacteria Tropheryma whipplei which predominantly infects macrophages of the small intestines. The specific findings of OMM are thought to be due to lesions in the midbrain and upper pons.6

OMM is more common in men than women7. This condition is incredibly uncommon so there is no accurate estimate of incidence, although reports in the literature suggest that the incidence of OMM in patients with Whipple’s disease is around 20%.8

Diagnosis

Diagnosis of Whipple’s disease is made by duodenal or jejunal biopsy which will show PAS-positive “foamy” macrophages containing Gram positive bacilli. It can also be diagnosed via PCR assay for whipplei or using a FISH rRNA probe.9 Whipple’s disease is rare and generally only considered after other malabsorption, infectious, and systemic disorders have been ruled out. The presentation of OMM is pathognomonic for Whipple’s disease and thus can aid in quickly making a diagnosis.

Differential Diagnosis

Nystagmus present: Oculopalatal myoclonus – oculopalatal myoclonus refers to a condition in which palatal myoclonus is associated with skeletal limb involvement and convergent-divergent nystagmus that can persist during sleep. It can present similar to OMM although there are several differences that help distinguish the two pathologies. While OMM is caused by Whipple’s disease, oculopalatal myoclonus is usually due to a stroke in the brainstem, specifically, the myoclonic triangle (Guillain-Mollaret triangle [GMT]) that regulates motor activity of the spinal cord. MRI will clearly show an infarct and will often reveal inferior olive hypertrophy in the medulla, a finding not present in OMM.6

Nystagmus not present: Limb myorhythmia, Holmes tremor, Parkinson’s disease, cerebrovascular infarcts, Listeria encephalitis, MS, tics, Tourette’s syndrome.

Treatment

Chloramphenicol, TMP-SMX, tetracycline, erythromycin, and ceftriaxone, are all antibiotics that can cross the blood-brain-barrier and have been found to be effective in Whipple’s disease with CNS manifestation1,4. The minimum length of antibiotic treatment is unclear, but continued therapy for 12+ months can decrease risk of relapse.7 A generally accepted treatment regimen for Whipple’s disease with OMM or OFSM is daily IV ceftriaxone or penicillin G for two weeks, followed by TMP-SMX twice a day for a year.10

Course & Outcome

When diagnosed, Whipple’s disease should be treated with chronic antibiotic therapy; if left untreated, the disease is fatal.

We recommend that all patients diagnosed with Whipple’s disease receive a neuro-ophthalmologic evaluation.4

Media

A brief video (2:46) narrated by Shirley Wray, M.D., Ph.D, FRCP showing a patient with OMM (used with permission from NOVEL)9: http://www.kaltura.com/index.php/extwidget/preview/partner_id/797802/uiconf_id/27472092/entry_id/0_yeuyrjyj/embed/auto

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REFERENCES

1. Schwartz MA, Selhorst JB, Ochs AL, et al. Oculomasticatory myorhythrma: A unique movement disorder occurring in Whipple’s disease. Annals of Neurology Ann Neurol. 1986;20(6):677–683. doi:10.1002/ana.410200605.
2. Revilla FJ, Cruz RDL, Khardori N, Espay AJ. Teaching NeuroImage: Oculomasticatory myorhythmia: Pathognomonic phenomenology of Whipple disease. Neurology 2008;70(6). doi:10.1212/01.wnl.0000287142.16160.0f.
3. Strowd R. September 4, 2013 E-Pearl: Watching for Whipple’s: Oculomasticatory Myorhythmia. American Academy of Neurology® 2014. Available at: https://www.aan.com/residents-and-fellows/e-pearl-of-the-week/september-4-2013/.
4. Adler CH. Oculo-Facial-Skeletal Myorhythmia in Whipple Disease: Treatment with Ceftriaxone. Annals of Internal Medicine Ann Intern Med 1990;112(6):467. doi:10.7326/0003-4819-76-3-112-6-467.
5. Hausser-Hauw C, Roullet E, Robert R, Marteau R. Oculo-facio-skeletal myorhythmia as a cerebral complication of systemic Whipple’s disease. Movement Disorders Mov Disord. 1988;3(2):179-184. doi:10.1002/mds.870030211.
6. Baizabal-Carvallo JF, Cardoso F, Jankovic J. Myorhythmia: Phenomenology, Etiology, and Treatment. Movement Disorders 2015;30(2):171–179. doi:10.1002/mds.26093.
7. Fenollar, F., Puéchal, X., Raoult, D. January 2007. “Whipple’s disease”. New England Journal of Medicine 356 (1): 55–66. doi:10.1056/NEJMra062477. PMID 17202456.
8. Louis ED, Lynch T, Kaufmann P, Fahn S, Odel J. Diagnostic guidelines in central nervous system Whipple’s disease. Annals of Neurology Ann Neurol. 1996;40(4):561–568. doi:10.1002/ana.410400404.
9. Wray SH. Oculomasticatory Myorhythmia. Oculomasticatory Myorhythmia :: EHSL – Shirley H. Wray Neuro-Ophthalmology Collection 2002. Available at: http://content.lib.utah.edu/cdm/ref/collection/ehsl-shw/id/283 and http://www.kaltura.com/index.php/extwidget/preview/partner_id/797802/uiconf_id/27472092/entry_id/0_yeuyrjyj/embed/auto
10. Apstein MD and Schneider T. Whipple’s Disease. In: UpToDate, Post TW (Ed), UpToDate, Waltham, MA. (Accessed on May 29, 2016.)