Autopsy and Case Reports
Autopsy and Case Reports
Clinical Case Report

Erdheim-Chester disease presenting at the central nervous system

Sydney Fasulo; Mina Fransawy Alkomos; Rovena Pjetergjoka; Erinie M Mekheal; Sharon Awasthi; Sahithi Chittamuri; Vinod Kumar; Mehandar Kumar; Amer Akmal; Michael Maroules

Downloads: 0
Views: 1107


Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.


Erdheim-Chester Disease, non-Langerhans cell histiocytosis, and Cerebellar neoplasms


1 Jeon I, Choi JH. Isolated thoracic intramedullary Erdheim-Chester disease presenting with paraplegia: a case report and literature review. BMC Musculoskelet Disord. 2021;22(1):270. PMid:33711983.

2 Adle-Biassette H, Chetritt J, Bergemer-Fouquet AM, Wechsler J, Mussini JM, Gray F. Pathology of the central nervous system in Chester-Erdheim disease: report of three cases. J Neuropathol Exp Neurol. 1997;56(11):1207-16. PMid:9370231.

3 Rushing EJ, Bouffard JP, Neal CJ, et al. Erdheim-Chester disease mimicking a primary brain tumor. Case report. J Neurosurg. 2004;100(6):1115-8. PMid:15200134.

4 Conley A, Manjila S, Guan H, Guthikonda M, Kupsky WJ, Mittal S. Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. Neuropathology. 2010;30(6):634-47. PMid:20337948.

5 Zelger BW, Sidoroff A, Orchard G, Cerio R. Non-Langerhans cell histiocytoses. A new unifying concept. Am J Dermatopathol. 1996;18(5):490-504. PMid:8902096.

6 Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135(22):1929-45. PMid:32187362.

7 Ozkaya N, Rosenblum MK, Durham BH, et al. The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. Mod Pathol. 2018;31(4):581-97. PMid:29192649.

Submitted date:

Accepted date:

Publication date:

61320e8ea95395355e61a464 autopsy Articles
Links & Downloads

Autops Case Rep

Share this page
Page Sections