{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T15:16:53Z","timestamp":1790090213710,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,12,11]],"date-time":"2015-12-11T00:00:00Z","timestamp":1449792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2016,3]]},"abstract":"Abstract<\/jats:title>\n \n Erdheim\u2010Chester disease (\n ECD<\/jats:styled-content>\n ) is a non\u2010Langerhans cell histiocytosis that affects multiple body organs, notably the skeletal system. We examined a 58\u2010year\u2010old man who presented with ataxia and T2 hyperintensity of the middle cerebellar peduncles and dentate nuclei without contrast enhancement on\n MRI<\/jats:styled-content>\n brain. Workup for malignancy revealed \u201chairy kidneys\u201d on\n CT<\/jats:styled-content>\n scan of the abdomen, and excisional biopsy of the retroperitoneal mass for concerns of lymphoma revealed foamy histiocytes that tested positive for\n CD<\/jats:styled-content>\n 68 and negative for\n CD<\/jats:styled-content>\n 1a, confirming the diagnosis of\n ECD<\/jats:styled-content>\n . Further genetic testing on excised tissue revealed\n BRAF<\/jats:styled-content>\n (V600E) gene mutation that is present in 50% of\n ECD<\/jats:styled-content>\n patients. Treatment was initiated with targeted therapy using the\n BRAF<\/jats:styled-content>\n inhibitor Dabrafenib. X\u2010ray of the lower extremities did not reveal sclerosis of the long bones, and bone scan with technetium 99 was negative except for a nonspecific tracer uptake in left calvarial bone with no corresponding\n CT<\/jats:styled-content>\n changes or T1\/T2 signal changes on\n MRI<\/jats:styled-content>\n . His\n MRI<\/jats:styled-content>\n brain revealed classic cerebellar involvement in\n ECD<\/jats:styled-content>\n without other central nervous system (\n CNS<\/jats:styled-content>\n ) involvement. It has been postulated that bone involvement is almost universal in\n ECD<\/jats:styled-content>\n ; however, our patient with\n ECD<\/jats:styled-content>\n had ataxia and cerebellar involvement without significant bone involvement, as evidenced by bone scan. This is a rare presentation of\n ECD<\/jats:styled-content>\n affecting the\n CNS<\/jats:styled-content>\n and sparing the skeletal system. It confirms the wide spectrum of presentation this multisystem disease can have.\n <\/jats:p>","DOI":"10.1002\/mdc3.12277","type":"journal-article","created":{"date-parts":[[2015,12,11]],"date-time":"2015-12-11T07:50:41Z","timestamp":1449820241000},"page":"125-129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Neurohistiocytosis of the Cerebellum: A Rare Cause of Ataxia"],"prefix":"10.1002","volume":"3","author":[{"given":"Ahmad","family":"Elkouzi","sequence":"first","affiliation":[{"name":"Southern Illinois University School of Medicine Springfield Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Rauschkolb","sequence":"additional","affiliation":[{"name":"Southern Illinois University School of Medicine Springfield Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen 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