Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2021.321
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

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Abstract

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.

Keywords

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

References

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Submitted date:
06/17/2021

Accepted date:
07/10/2021

Publication date:
09/03/2021

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