Cerebellar ataxia and exercise intolerance in Erdheim-Chester disease

Abstract

Background Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported. Case presentation A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with 99Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68+ histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF)V600E activating mutation in tumor cells. Conclusion In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.

Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease

“…Most published cases of ECD with cerebellar ataxia are associated with hyperintense lesions affecting the cerebellum, particularly the dentate nuclei, on T2-weighted MRI sequences 18–21. It is thought that local histiocyte infiltration with subsequent cerebellar mass formation explains the ataxia in these cases 22.…”

Erdheim-Chester Disease Revealed by Central Positional Nystagmus: A Case Report

“…The study by Batjia et al on 30 patients, reported 63% of ataxia, but without details on physical examination and no description of possible nystagmus ( 8 ). Lauricella et al, described a case with gaze nystagmus, associated with other neurological signs, including hypermetria and dysarthria ( 9 ). Na et al, reported the case of a patient with dysarthria, dysmetria and gaze nystagmus, associated with joint pain and painful axillary masses ( 4 ).…”