Cerebellar ataxia and exercise intolerance in Erdheim-Chester disease View Full Text


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Article Info

DATE

2021-01-06

AUTHORS

Eleonora Lauricella, Antonio d’Amati, Giuseppe Ingravallo, Maurizio Foresio, Domenico Ribatti, Marina de Tommaso, Mauro Cives, Francesco Girolamo

ABSTRACT

BackgroundErdheim-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 presentationA 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.ConclusionIn 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. More... »

PAGES

3

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s40673-020-00125-x

DOI

http://dx.doi.org/10.1186/s40673-020-00125-x

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https://app.dimensions.ai/details/publication/pub.1134395915

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/33407940


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