Abstract
Background
Erdheim-Chester disease (ECD) is a rare histiocytosis, histologically characterized by xanthogranulomatous inflammation. It may affect the bones, heart, lung, liver, kidneys, retroperitoneum, brain, and, rarely, the orbit. In the majority of patients, orbital infiltration is bilateral.
Case
A 61-year-old man presented with bilateral exophthalmos and progressive loss of visual function caused by chorioretinal folds and papillary swelling due to retrobulbar pseudotumor. The computed tomogram of the abdomen showed retroperitoneal thickening, leading to the interpretation of multifocal fibrosclerosis. This was further substantiated by an orbital biopsy revealing chronic fibrosing inflammation. Retrobulbar radiotherapy (20 Gy) and long-term systemic corticosteroid treatment followed. Although the retroperitoneal involvement decreased, no significant effect on orbital involvement was achieved. A second review of the orbital biopsy revealed foamy cell infiltration and the presence of a sclerotic process. Immunohistochemical examination demonstrated positive CD 68 stains, whereas S-100 and CD 1a were negative, thus confirming ECD. The histologic finding was comparable to a biopsy of the retroperitoneum. Endonasal decompression was performed but visual acuity (VA) decreased to 20/250 in the right eye and on finger counting in the left eye. The patient continues to be under therapy with prednisolone 20 mg/day and methotrexate 25 mg/ week.
Conclusions
The clinical orbital manifestation of ECD occurs in two different forms: one presenting as a mild impairment of visual function, while the second, clinical form, observed in our patient, is characterized by a progressive loss of VA despite therapeutic efforts such as immunosuppressive systemic therapy, radiation, and surgery. The described case illustrates that clinical findings in multifocal fibrosclerosis overlap with those observed in ECD.
References
Alper MG, Zimmerman LE, Piana FG (1983) Orbital manifestations of Erdheim-Chester disease. Trans Am Ophthalmol Soc 81:64–85
Al-Quran S, Reith J, Rimsza L (2002) Erdheim-Chester Disease: Case Report, PCR-Based Analysis of Clonality, and Review of Literature. Modern Pathology 15:666–672
Amrith S, Hong-Low C, Cheah E, Oo Tan Y (1999) Erdheim-Chester disease: a bilateral orbital mass as an indication of systemic disease. Orbit 18: 99–104
Chester W (1930) Über Lipidgranulomatose. Virchows Archiv 279:561–602
de Palma P, Ravalli L, Grisanti F, Rossi A, Marzola A, Nielsen I (1998) Bilateral orbital involvement in Erdheim-Chester disease. Orbit 17: 97–105
Gupta A, Kelly B, McGuigan JE (2002) Erdheim-Chester disease with prominent pericardial involvement: clinical, radiologic, and histologic findings. Am J Med Sci 324: 96–100
Kenn W, Staebler A, Zachoval Ret al (1999) Erdheim-Chester disease: a case report and literature overview. Eur Radiol 9:153–158
Kenn W, Eck M, Allolio B et al (1999) Erdheim-Chester disease: evidence for a disease entity different for Langerhans cell histiocytosis? Three cases with detailed radiological and immunohistochemical analysis. Hum Pathol 31:734–739
Khamseh ME, Mollanai S, Hashemi F, Rezaizadeh A, Azizi F (2002) Erdheim-Chester syndrome, presenting as hypogonadotropic hypogonadism and diabetes insipidus. J Endocrinol Invest 25: 727–729
Le Goff L, Berros P, Denis D, Ridings B (2002) Bilateral exophthalmos and diabetes insipidus: Erdheim-Chester disease. Clinical and radiological findings. J Fr Ophthalmol 25: 57–61
Leluc O, Andre M, Marciano S, Lafforgue P, Rossi D, Bartoli J (2001) Retroperitoneal complications of Erdheim-Chester disease. J Radiol 82: 580–582
Oweity T, Scheithauer BW, Ching HS, Lei C, Wong KP (2002) Multiple systemic Erdheim-Chester disease with massive hypothalamic-sellar involvement and hypopituitarism. J Neurosurg 96: 344–351
Perras B, Petersen D, Lorch H, Fehm HL (2002) Psychoneuroendocrine disturbances in a patient with a rare granulomatous disease. Exp Clin Endocrinol Diabetes 110: 248–252
Ranty ML, Le Pessot F, Billerey C, Dominique S, Metayer J (2001) Erdheim-Chester disease. Apropos of case with autopsy findings. Ann Pathol 21:529–533
Reithmeier T, Trost HA, Wolf S, Stolzle, Feiden W, Lumenta CB (2002) Xanthogranuloma of the Erdheim-Chester type within the sellar region: case report. Clin Neuropathol 21:24–28
Sheidow TG, Nicolle DA, Heathcote JG (2000) Erdheim-Chester disease: two cases of orbital involvement. Eye 14: 606–612
Smith JR, Rosembaum JT (2001) A role for methotrexate in the management of non-infectious orbital inflammatory disease. Br J Ophthalmol 85: 1220–1224
Valmaggia C, Neuweiler J, Fretz C, Gottlob I (1997) A case of Erdheim-Chester disease with orbital involvement. Arch Opthalmol 115:1467–1468
van der Lee I, Slee PH, Elbers JR (1999) A patient with diabetes insipidus and periorbital swellings; Erdheim-Chester disease. Neth J Med 55: 76–79
Watermann DF, Kiesewetter F, Frosch PJ (2001) Skin manifestations of Erdheim-Chester disease. Case report and review of the literature. Hautarzt 52:510–517
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Hoffmann, E.M., Müller-Forell, W., Pitz, S. et al. Erdheim-Chester disease: A case report. Graefe's Arch Clin Exp Ophthalmol 242, 803–807 (2004). https://doi.org/10.1007/s00417-004-0928-5
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DOI: https://doi.org/10.1007/s00417-004-0928-5