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Abstract Details

Abducens Nerve Palsy and Vision Loss Secondary to Erdheim-Chester Disease
Neuro-ophthalmology/Neuro-otology
P6 - Poster Session 6 (12:00 PM-1:00 PM)
5-005
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic disorder of unknown etiology primarily affecting the bones and can infiltrate extra-skeletal tissues. There are less than 500 cases of ECD reported in literature. There is a variable presentation from near asymptomatic to multi-organ failure. Neurologic involvement is seen in 40-50% of cases; symptoms may include ocular issues, pituitary dysfunction, seizures, or radiculopathy to name some of the most common. Histological analysis is the gold standard for the diagnosis. There is no known cure however targeted therapies have shown promising results in retrospective case series.
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Case Presentation
We describe a 51 year old female with a 2-year history of extensive retroperitoneal fibrosis (poorly responsive to rituximab, mycophenolate, and prednisone) complicated by IVC compression who presents with chronic headache, right abducens palsy, exophthalmos, and progressive vision loss. Magnetic Resonance Imaging (MRI) showed pachymeningitis, and left extra-axial and sagittal sinus masses. Lumbar puncture revealed elevated opening pressure (36) with normal cell count and protein. It was initially thought that the patient may have IgG-4 related disease but meningeal biopsy showed “sheets of foamy histiocytes with multinucleate giant cells and scant lymphocytic and neutrophilic infiltrate” consistent with ECD. The patient was found on genetic testing to have BRAF V600E mutation and was started on Vemurafenib therapy. Repeat CT head showed interval reduction in size of extra-axial mass.
In patients with a clinical picture of a non-infectious pachymeningitis with or without signs of increased intracranial pressure, it is important to include a broad differential diagnosis, including ECD. The clinical picture of ECD may look similar to IgG4-related; tissue diagnosis is imperative as the treatment between those two entities is entirely different.
Authors/Disclosures
Christina Yuen, MD (Providence)
PRESENTER
No disclosure on file
John G. Kelsey, MD (Harbor UCLA Medical Center) No disclosure on file
Eric Tamrazian, MD (Little Company of Mary Torrance) Dr. Tamrazian has nothing to disclose.
Margaret Adler, MD (Harbor UCLA Department of Neurology) Dr. Adler has nothing to disclose.