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Neuroradiology Case of the Week
Case 392
March 2009
Sam McCabe, MD, and PL Westesson, MD, PhD, DDS
Clinical
Presentation: Patient is a 68-year-old male with painless left proptosis.
Imaging Findings: A 2.4 x 1.3 cm enhancing mass in the superior portion of the left orbit.
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| Figure 1: Coronal T1W MR image shows an isointense mass lesion in the superior portion of the orbit, above and separate from the superior precuts muscle. It results in downward displacement of the globe.
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| Figure 2: Coronal T2W MR fat sat image shows the lesion is slightly hyperintense.
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Figure 3: Post-gadolinium T1W MR image shows avid, slightly irregular enhancement.
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Diagnosis: Erdheim Chester disease
Discussion: Erdheim Chester (EC) disease, also known as polyostotic sclerosing histiocytosis, is a rare idiopathic xanthomatosis characterized by tissue infiltration with non-Langerhans cell histiocytes. The disease is histologically and radiographically very similar to Langerhans cell histiocytosis (LCH), however EC typically affects older adults while LCH affects adolescents and young adults. In addition, immunohistochemical stains permit differentiation of the Langerhans cell histiocytes of LCH from the non-Langerhans histiocytes of EC. Bone pain is the most common presenting symptom.
EC is a multisystemic disease, potentially involving the orbits, appendicular skeleton, CNS, retroperitoneum, pericardium, and lungs. Orbital manifestations may include poorly-defined orbital fat infiltration or well defined orbital masses. The lesion may involve the extraocular muscles, lacrimal glands or the optic nerve sheath. The differential diagnosis for orbital involvement includes orbital pseudotumor, lymphoma, metastases, Graves ophthalmopathy, sarcoidosis, Sjögren syndrome, and Wegener's granulomatosis.
Skeletal manifestations are the most common manifestation of EC and include symmetric osteosclerosis of the diaphyses and metaphyses of long bones, with sparing of the epiphyses. Central diabetes insipidus has been reported, without specific imaging findings. Enhancing cerebellar and brainstem lesions attributable to EC have been confused with demyelinating lesions of multiple sclerosis (MS). Infiltration and resultant fibrosis of the retroperitoneum, pericardium, and pulmonary interstitium may result in restrictive tethering and potential organ failure.
Prognosis is related to the extent of organ involvement. Most patients die within 3 years from congestive heart failure, pulmonary fibrosis, or renal failure. Treatment options include corticosteroids, radiation, chemotherapy, and immunosuppressants. No definitive or highly effective treatment options have been found.
References:
- Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996 May;75(3):157-69. [PubMed]
- Valmaggia C, Neuweiler J, Fretz C, Gottlob I. A Case of Erdheim-Chester disease with orbital involvement. Arch Ophthalmol. 1997 Nov;115(11):1467-8. [PubMed]
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