A case of Erdheim Chester disease with central nervous system involvement

Abstract

Erdheim Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, commonly involving the musculoskeletal system. Other tissue can also be involved, including the central nervous system with wide spectrum of clinical features, at times being nonspecific. This can cause diagnostic dilemmas with delay in diagnosis and initiation of therapy. Here we describe a 63-year-old man who had presented with ataxia and behavioral changes, bony pains, weight loss, and fatigue. His computed tomography (CT), 99Tc scintigraphy and histopathological features on bone biopsy were consistent with ECD. Thus, ECD should be considered as a differential diagnosis in patients presenting with bony pain and nonspecific features of multiorgan involvement.

Erdheim-Chester Disease with a Posterior Fossa Tumour Mimicking Neurosarcoidosis: a Case Report

“…ECD is a rare non-Langerhans cell histiocytosis that causes a multisystemic disease that can compromise long bones with painful osteoclastic lesions, and can also involve retroperitoneum, cardiovascular, pulmonary or orbits and cause periaortitis, pericarditis, retroperitoneal brosis, pulmonary in ltrates or xanthelasmas [1,8]. Its CNS involvement is relatively common, around 50%, and can mimic various intra and extra-axial lesions generating a widespread of neurological manifestations and/or complications such as diabetes insipidus and hydrocephalus [6,9].…”

“…It did not only show the presence of sclerotic lesions but also of periaortitis, pulmonary in ltrates and pericardial and pleural effusion. The con rmation was made by bone scintigraphy in which bilateral symmetric metadiaphyseal medullary sclerosis with epiphyseal sparring and intense uptake of the radiotracer is seen in long bones [1]. Cranial vault involvement has been reported in up to 26% of cases [6].…”

“…Amongst those are anakinra, vemurafenib, imatinib and cladarbine. Our treatment was directed by genetic studies that revealed positive for BRAF V600E proto-oncogene that suggest clonal proliferation giving the possibility of treatment with Vemura nib and therefore inhibiting the activation of the RAS-extracellularsignal-regulated kinase limiting proliferation and lesion survival [1]. This mutation is present in 55-65% of ECD cases [10].…”

“…The pathogenesis of this disease remains unknown. It is most commonly found in the middle-aged male population [1, 8]. Here, we present a case of a middle-aged woman with an extra-axial lesion that was initially considered to be neurosarcoidosis proving the diagnostic challenge this entity implies.…”

Erdheim‐Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature

“…On the other hand, cranial biopsy has rarely been performed in ECD cases with systemic involvement, as skin, bone, or kidney biopsies were preferred in these cases because they were easier to perform. 6,28,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47] In almost half of the cases, the BRAF mutation was not studied or not mentioned in the case reports. However, if the BRAF mutation was studied and found to be positive, the prognosis was favorable, with total or partial remission when specific BRAF kinase inhibitors (such as vemurafenib or dabrafenib) or tyrosine kinase inhibitors (such as cobimetinib) were used as targeted therapy.…”