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Erdheim–Chester Disease and Palatal Tremor

Published online by Cambridge University Press:  17 November 2017

Natalie E. Parks*
Affiliation:
Division of Neurology, Dalhousie University, Halifax, Nova Scotia, Canada Department of Neurology, Mayo Clinic, Rochester, Minnesota, United States.
R. Allan Purdy
Affiliation:
Division of Neurology, Dalhousie University, Halifax, Nova Scotia, Canada
*
Correspondence to: Natalie E. Parks, Division of Neurology, Halifax Infirmary, Room 3819, 1796 Summer Street, Halifax, Nova Scotia, Canada, B3H 3A7. Email: nparks@dal.ca
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Abstract

Type
Neuroimaging Highlights
Copyright
Copyright © The Canadian Journal of Neurological Sciences Inc. 2017 

A 53-year-old woman presented to neurology with progressive imbalance, dysphagia, and clicking of her ears over two years. Two years prior to onset of neurologic symptoms, she developed a right breast mass followed by additional soft tissue masses composed of foamy histiocytes with fibrosis, leading to a pathologically confirmed diagnosis of Erdheim–Chester disease (ECD), previously reported in detail.Reference Barnes, Foyle, Hache, Langley, Burrell and Juskevicius 1 Following pathology diagnosis, long-bone X-rays revealed typical diaphyseal and metaphyseal osteosclerosis.Reference Barnes, Foyle, Hache, Langley, Burrell and Juskevicius 1 She did not have diabetes insipidus. Peripheral blood BRAFV600E mutation was negative. Neurologic examination was remarkable only for palatal tremor (Video 1; see Supplementary Materials), symmetric limb ataxia, and ataxic gait. Magnetic resonance imaging of the brain demonstrated bilateral T2 hyperintensity of the inferior olivary nucleus (ION), moderate cerebellar atrophy, and several nonspecific T2 hyperintensities in the cerebral white matter without intracranial gadolinium enhancement (Figure 1).

Figure 1 Bilateral ION T2 hyperintensity (A, arrow) consistent with symptomatic palatal tremor associated with moderate cerebellar atrophy (B) and nonspecific cerebral white matter T2 hyperintensities (C).

ECD is a rare hematologic disorder of histiocytes with multifocal involvement, including skeletal (96%), retroperitoneal (68%), cardiac (64%), central nervous system (51%), orbital (25%), and hypophyseal (23%) manifestations.Reference Arnaud, Hervier and Neel 2 Among ECD patients with neurologic involvement, about 40% experience symptoms of a cerebellar syndrome with such features as ataxia, nystagmus, and dysarthria.Reference Lachenal, Cotton and Desmurs-Clavel 3 In this cohort of 66 ECD patients with neurologic manifestations, 45% exhibited pyramidal signs, while 47% had diabetes insipidus.Reference Lachenal, Cotton and Desmurs-Clavel 3 Neurologic symptoms may arise from extra-axial meningeal mass lesions or intra-axial infiltration. In a cohort with brain imaging, 44% had infiltrative cerebral lesions primarily in the brainstem and cerebellum, including within the Guillain–Mollaret triangle.Reference Lachenal, Cotton and Desmurs-Clavel 3

The Guillain–Mollaret triangle, or the dentato–rubro–olivary circuit, links the contralateral dentate nucleus with the ipsilateral red nucleus and the ION.Reference Murdoch, Shah and Jampana 4 Disruption of the circuit can be clinically associated with palatal tremor, ataxia, and ocular manifestations.Reference Murdoch, Shah and Jampana 4 Pathological causes include degenerative disorders (Alexander’s disease), infarction, demyelination, and trauma.Reference Goyal, Versnick and Tuite 5 Following damage to the Guillain–Mollaret triangle, ION T2 hyperintensity appears at approximately 1 month followed by ION hypertrophy at 6 months, which persists for 3–4 years, though T2 hyperintensity may remain indefinitely.Reference Goyal, Versnick and Tuite 5

We suspect that histiocytic infiltration of the structures composing the Guillain–Mollaret triangle resulted in ION radiographic changes and palatal tremor. Despite frequent infiltration of the brainstem and cerebellum, palatal tremor has not previously been described in ECD.

Disclosures

Natalie E. Parks and R. Allan Purdy hereby declare that they have no conflicts of interest to disclose.

Supplementary Material

To view the supplementary materials for this article, please visit https://doi.org/10.1017/cjn.2017.259.

References

1. Barnes, PJ, Foyle, A, Hache, KA, Langley, RG, Burrell, S, Juskevicius, R. Erdheim–Chester disease of the breast: a case report and review of the literature. Breast J. 2005;11(6):462-467.CrossRefGoogle ScholarPubMed
2. Arnaud, L, Hervier, B, Neel, A, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim–Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117(10):2778-2782.CrossRefGoogle ScholarPubMed
3. Lachenal, F, Cotton, F, Desmurs-Clavel, H, et al. Neurological manifestations and neuroradiological presentation of Erdheim–Chester disease: report of 6 cases and systematic review of the literature. J Neurol. 2006;253(10):1267-1277.CrossRefGoogle ScholarPubMed
4. Murdoch, S, Shah, P, Jampana, R. The Guillain–Mollaret triangle in action. Pract Neurol. 2016;16(3):243-246.CrossRefGoogle ScholarPubMed
5. Goyal, M, Versnick, E, Tuite, P, et al. Hypertrophic olivary degeneration: metaanalysis of the temporal evolution of MR findings. AJNR Am J Neuroradiol. 2000;21(6):1073-1077.Google ScholarPubMed
Figure 0

Figure 1 Bilateral ION T2 hyperintensity (A, arrow) consistent with symptomatic palatal tremor associated with moderate cerebellar atrophy (B) and nonspecific cerebral white matter T2 hyperintensities (C).

Parks and Purdy supplementary material

Video 1

Download Parks and Purdy supplementary material(Video)
Video 9 MB
Supplementary material: File

Parks and Purdy supplementary material

Parks and Purdy supplementary material 2

Download Parks and Purdy supplementary material(File)
File 12 KB
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