Presyncope and Ophthalmoparesis Due to Intracranial Erdheim-Chester Disease

Abstract

Introduction:

An 82-year-old female presented to the emergency department with presyncope and was found to be bradycardic with proptosis and ophthalmoparesis. MRI revealed an extra-axial enhancing mass compressing the medulla and bilateral enhancing retro-orbital masses.

Case Description:

Imaging, including nuclear medicine bone scan, PET CT, and cardiac MRI raised the suspicion for a histiocytic neoplasm. These findings, along with a fibrohistiocytic infiltrate on bone biopsy and a BRAF V600E oncogenic mutation on plasma cell-free DNA confirmed a diagnosis of Erdheim-Chester disease.

Discussion:

These enhancing masses invoke a broad differential, including a histiocytic or granulomatous process, fungal infection, amyloidosis, IgG4 disease, and lymphoma. Systematic laboratory, radiologic, pathology, and genetic testing yielded a diagnosis of this rare histiocytic disorder with frequent neurologic involvement.

Keywords

syncope vasovagal < autonomic nervous system diseases hematology < clinical specialty brain neoplasms < nervous system neoplasms ophthalmoplegia < cranial nerve diseases

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References

Parks

Goyal

, et al. Neuroradiologic manifestations of Erdheim-Chester disease. Neurology: Clinical Practice 2018; 8(1): 15-20.

Goyal

Young

Koster

. Consensus statement for the diagnosis and evaluation of adult patients with histiocytic neoplasms: Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. In Mayo Clin Proc 2019; 94(10): 2054-2071.