A 34-year-old man presented with progressive visual loss, diplopia, headache, intermittent fever, and significant weight loss for 7 months. Physical examination revealed bilateral visual loss and exophthalmos with complete ophthalmoplegia. Imaging demonstrated pachymeningeal enhancement, soft tissue infiltration in the retro-orbital spaces and multiple organs including kidneys and abdominal aorta, and mixed osteosclerotic and osteolytic lesions in bilateral femoral heads1 (figure). Pathologic study of the retro-orbital lesion revealed foamy histiocytes negative for CD1a and S100,2 consistent with Erdheim-Chester disease (ECD). The patient was treated with IV methylprednisolone followed by cyclosporine with minimal benefit. Four months later, he died due to sudden unexplained death during sleep. An autopsy was not performed. ECD is a rare, non-Langerhans histiocytosis characterized by chronic histiocytic infiltration of multiple organs. Common manifestations include bone pain, diabetes insipidus, exophthalmos, and xanthelasma.1 The nervous system is affected in 25%–50% of patients and can be involved in the extra-axial and intra-axial compartments.1,2 Standard treatment has not been established.
(A) Soft tissue infiltration in bilateral retro-orbital spaces (arrows). (B) Brain MRI demonstrates enhancement of pachymeninges (arrows). (C) Abdominal CT illustrates encasement of bilateral kidneys and aorta by infiltrates (arrows). (D) Pelvic CT shows mixed osteolytic (arrowheads) and osteosclerotic (arrows) lesions of femoral heads.
AUTHOR CONTRIBUTIONS
Dr. Srivanitchapoom contributed to manuscript preparation by writing the first draft, reviewing, and critiquing. Dr. Sathornsumetee contributed to manuscript preparation by reviewing, critiquing, revising, and editing.
STUDY FUNDING
No targeted funding reported.
DISCLOSURE
The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
Footnotes
Download teaching slides: Neurology.org
- © 2015 American Academy of Neurology
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
