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Case Reports in Hematology
Volume 2017, Article ID 3862052, 6 pages
https://doi.org/10.1155/2017/3862052
Case Report

Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss

1Division of Hematology and HSCT, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia
2Department of Neurology, King Abdulaziz Medical City, Riyadh, Saudi Arabia
3College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia
4Department of Medical Imaging, King Abdulaziz Medical City, Riyadh, Saudi Arabia

Correspondence should be addressed to Hind Salama; moc.liamtoh@161demhadnih

Received 11 April 2017; Revised 9 August 2017; Accepted 26 September 2017; Published 30 October 2017

Academic Editor: Neelam Giri

Copyright © 2017 Hind Salama et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement. This patient has unintentionally lost about 50% of his body mass and is suffering from progressive cerebellar manifestations with radiological evidence of cerebellar atrophy, in contrast to the usual ECD manifestation of cerebellar infiltration. In addition, the patient has cardiac, retroperitoneal, and perinephric involvement, but he retains his sexual drive and fertility. A tissue biopsy from the retroperitoneal mass displayed typical morphological and immunohistochemical features of ECD, and BRAF V600E mutation was detected. He was treated with pegylated interferon alpha, but his disease progressed and the treatment was changed to vemurafenib to which he had an excellent response at 6 weeks.