Oculomasticatory myorhythrma: A unique movement disorder occurring in Whipple's disease

Schwartz, Michael A.; Selhorst, John B.; Ochs, Alfred L.; Beck, Roswitha; Campbell, W. W.; Harris, J.Kim; Waters, Brian; Velasco, Manuel E.

doi:10.1002/ana.410200605

Cited by 153 publications

(78 citation statements)

References 32 publications

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“…Physical examination also revealed rhythmic contractions of the jaw and tongue with coincident convergent oscillations of the eyes, classic for oculomasticatory myorrhythmia, a form of myoclonus pathognomonic for CNS WD. 4 His strength was preserved, but he had diffuse hyperreflexia except at the ankles. Histopathology of the small bowel biopsy revealed PAS-positive material, and the small bowel PCR was positive for Whipple bacillus nucleic acid.…”

Section: Subjectmentioning

confidence: 98%

MR Imaging of Central Nervous System Whipple Disease: A 15-Year Review

Black

Aksamit²,

Morris

2010

AJNR Am J Neuroradiol

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SUMMARY: CNS WD is fatal if antibiotics are not begun early, but knowledge regarding the variety of presentations on MR imaging is limited. In order to more effectively recognize this entity on MR imaging, the Mayo Clinic medical records were reviewed for subjects diagnosed with CNS WD from 1992-2006 who had also undergone MR imaging of the neuraxis. Seven subjects were identified and their imaging findings were reviewed by the authors. Four of 7 had head MR imaging findings indicative of WD. Two subjects demonstrated high T2 signal within the corticospinal tracts. CNS WD may demonstrate high T2 signal with minimal enhancement and no restricted diffusion, primarily in the midline of the midbrain, hypothalamus, and mesial temporal lobes and occasionally the corticospinal tracts. MR imaging may also be normal. Radiologists should be aware of these presentations and be prepared to mention CNS WD as a diagnostic possibility since early antibiotic therapy may significantly impact morbidity and mortality.ABBREVIATIONS: asxs ϭ asymptomatic; CNS ϭ central nervous system; FLAIR ϭ fluid-attenuated inversion recovery; GI ϭ gastrointestinal; NP ϭ not performed; PAS ϭ periodic-acid-Schiff; PCR ϭ polymerase chain reaction; Rx ϭ therapy; WD ϭ Whipple disease W D is a rare disorder that was first described in 1907 and subsequently found to be caused by a bacterium. Although WD is a systemic illness, it may present with signs and symptoms isolated to gastrointestinal, cardiac, or central nervous systems.1 Approximately 33% of patients with WD experience neurologic symptoms, including encephalopathy, ophthalmoplegia, myoclonus, ataxia, upper motor neuron signs, and hypothalamic manifestations, among others.WD is invariably fatal without treatment, but even with antibiotics, 2%-33% of patients relapse, most often with a neurologic manifestation.2 CNS involvement of WD carries a grim prognosis with approximately 25% of patients dying within 4 years of diagnosis and another 25% having major neurologic sequelae.3 Approximately 60% of patients with CNS WD experience some improvement in their symptoms during antibiotic therapy; thus, early diagnosis and treatment initiation are paramount for survival.1 Diagnostic efforts may be hampered by the plethora of presenting signs and symptoms as well as the lack of sensitivity and specificity of laboratory tests.CNS WD is a subset of a rare disease. Only approximately 1000 cases of all types of WD have been reported, and our understanding of head MR imaging findings is based only on case reports; thus, each new case imaged with modern equipment has the potential to expand our understanding significantly as long as the diagnosis has been carefully established. Materials and MethodsThis retrospective study was approved by the Mayo Clinic institutional review board. The Mayo Clinic medical records from 1992 to 2006 were searched for terms including "Whipple disease" and "encephalopathy." Review of an initial 140 subjects identified with some form of WD revealed 20 patients thought to have CNS WD....

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Section: Subjectmentioning

confidence: 98%

MR Imaging of Central Nervous System Whipple Disease: A 15-Year Review

Black

Aksamit²,

Morris

2010

AJNR Am J Neuroradiol

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“…Whipple’s disease is caused by infection with Tropheryma whipplei , but immune dysfunction is thought to play a role. 61 With CNS involvement, oculomasticatory myorhythmia is pathognomonic, 62 and patients commonly have cognitive changes, although other psychiatric findings (depression, anxiety, psychosis, personality change) are often found. 63 Case reports have described a patient with an amnestic syndrome 64 and another with Klüver-Bucy-like symptoms 65 in CNS Whipple’s disease, which highlights the variable presentation in this disease.…”

Section: Encephalopathy In Lupus and Other Systemic Syndromesmentioning

confidence: 99%

The Emerging Link Between Autoimmune Disorders and Neuropsychiatric Disease

Kayser¹,

Dalmau²

2011

Journal of Neuropsychiatry

115

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“…Extraintestinal disease most frequently involves the heart and CNS. Cases having neurological, cardiac or ocular involvement without overt gastrointestinal manifestations have been increasingly reported (20)(21)(22)(23)(24)(25)(26)(27). Cases having CNS involvement without systemic involvement are characterized primarily by dementia, headaches, meningitis, myoclonus, seizures and somnolence.…”

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confidence: 99%

Rare but Not so Rare? The Evolving Spectrum of Whipple′s Disease

Conly

2001

Canadian Journal of Infectious Diseases and Medical Microbiolog

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Knowledge about Whipple's disease began to emerge in 1907, when George Hoyt Whipple recognized the first case of the disease that now bears his name. He reported the case of a 36-year-old physician with "a gradual loss of weight and strength, stools consisting chiefly of neutral fat and fatty acids, indefinite abdominal signs, and a peculiar multiple arthritis" (1). Findings at autopsy consisted of poly-serositis, aortic valve vegetations and deposition of fat in the intestinal mucosa and regional lymph nodes with marked infiltration by foamy macrophages (1). It was originally thought to be a disorder of fat metabolism, and the term 'intestinal lipodystrophy' was proposed. Whipple's disease has since been recognized as a rare, multivisceral, chronic disease with a clinical presentation dominated by a symptom triad of diarrhea, weight loss and malabsorption. However, digestive symptoms are often preceded for months or years by other symptoms, the most common being arthralgia, although cardiovascular, neurological or pulmonary involvement may be more prominent at times. Once considered the ideal case report, recent characterization ofTropheryma whippeliiby means of broad range bacterial ribosomal DNA polymerase chain reaction (PCR) analysis (2,3) and its subsequent cultivation (4) has led to a veritable explosion of individual case reports, case series and hitherto unrecognized manifestations of the disease, such that it is now considered an underdiagnosed infectious disease (5). It is timely to provide an update on new developments in Whipple's disease.

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Oculomasticatory myorhythrma: A unique movement disorder occurring in Whipple's disease

Cited by 153 publications

References 32 publications

MR Imaging of Central Nervous System Whipple Disease: A 15-Year Review

MR Imaging of Central Nervous System Whipple Disease: A 15-Year Review

The Emerging Link Between Autoimmune Disorders and Neuropsychiatric Disease

Rare but Not so Rare? The Evolving Spectrum of Whipple′s Disease

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