Erdheim-Chester disease presenting at the central nervous system

Authors

  • Sydney Fasulo St. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USA https://orcid.org/0000-0002-7791-4017
  • Mina Fransawy Alkomos St. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USA https://orcid.org/0000-0002-7669-1173
  • Rovena Pjetergjoka St. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USA https://orcid.org/0000-0003-2771-9616
  • Erinie M Mekheal St. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USA https://orcid.org/0000-0001-7829-4174
  • Sharon Awasthi St. Joseph’s University, Medical Center, Internal Medicine Department, Paterson, NJ, USA
  • Sahithi Chittamuri St. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USA
  • Vinod Kumar St. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USA https://orcid.org/0000-0001-5745-1943
  • Mehandar Kumar St. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USA
  • Amer Akmal St. Joseph’s University, Medical Center, Pathology Department, Paterson, NJ, USA
  • Michael Maroules St. Joseph’s University, Medical Center, Hematology and Oncology Department, Paterson, NJ, USA

DOI:

https://doi.org/10.4322/acr.2021.321

Keywords:

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

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.

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References

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Published

2021-09-10

Issue

Vol. 11 (2021)

Section

Clinical Case Report

License

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How to Cite

Fasulo, S. ., Fransawy Alkomos, M. ., Pjetergjoka, R. ., Mekheal, E. M. ., Awasthi, S. ., Chittamuri, S. ., Kumar, V. ., Kumar, M. ., Akmal, A. ., & Maroules, M. . (2021). Erdheim-Chester disease presenting at the central nervous system. Autopsy and Case Reports, 11, e2021321. https://doi.org/10.4322/acr.2021.321