Erdheim-Chester disease presenting at the central nervous system.

Area of Science:

• Neurology
• Oncology
• Histopathology

Background:

• Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, recently classified as a neoplastic disorder due to MAPK pathway mutations.
• Neurological manifestations of ECD are uncommon, posing diagnostic challenges.

Observation:

• A 35-year-old male presented with symptoms suggestive of increased intracranial pressure, including neck pain, headache, and vomiting.
• MRI revealed multiple heterogeneous intracranial masses, with biopsy confirming ECD involving the cerebellum.
• Systemic involvement was noted in the distal femurs, tibias, and fibulas via PET scan.

Findings:

• The cerebellar mass showed diffuse proliferation of foamy histiocytes and spindle cells with lymphoplasmacytic infiltrate, positive for CD68, CD163, Factor XIIIa, and Fascin.
• The patient demonstrated clinical improvement following treatment with vemurafenib.

Implications:

• This case underscores the importance of considering ECD in the differential diagnosis of intracranial masses, even with atypical presentations.
• Targeted therapy with vemurafenib shows promise in managing neurological ECD.
• Further research into ECD's neurological manifestations and treatment strategies is warranted.