Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review

Abstract

Erdheim-Chester disease (ECD) is a rare xanthogranulomatous disease in which orbital involvement can have devastating outcomes. Through a case report and review of the ophthalmic literature, we explore orbital findings, disease progression, and treatment options. Cases of orbital involvement in Erdheim-Chester disease were identified in the ophthalmic literature with a PubMed query and review of cited references. A total of 14 publications reporting 19 separate cases that included ophthalmic examination data were identified. Patient ages ranged from 26-77 years with a mean age of 50 years. Seventy-four percent (14/19) were men. Vision progression to no light perception was found in 32% (6/19) of the patients. Reviewed cases reported a variety of medical and surgical treatment approaches, however, only 53% reported cases (10/19) demonstrated disease improvement or stabilization. Erdheim-Chester disease with orbital involvement is a devastating disease with a poor prognosis. Awareness of this entity by the ophthalmologist is important as orbital signs and symptoms may manifest early, and orbital biopsy is often crucial to the definitive diagnosis.

Choroidal mass as the first presentation of Erdheim-Chester disease

“…Space-occupying orbital ECD, 8 which is often bilateral and manifests as proptosis, is found in 27% of ECD patients 20 . Occasionally it may be resistant to treatment, requiring surgical debulking.…”

“…Visual symptoms in patients with ECD have been reported in about 3% of all ECD patients 6 and 23% of patients with CNS involvement 7 . The most common form of ocular involvement is diffuse, intraconal, infiltrative orbital infiltrates in 25%–30% of ECD patients, 8 with risk of compressive optic neuropathy 9 and exophthalmos. Intraocular involvement is extremely rare and to our knowledge only 6 previous case reports have been published in literature 10, 11, 12…”

Seltene Erkrankungen der Orbita

“…severe disorders possible, including diabetes insipidus, cerebellar and pyramidal tract signs, cranial nerve paresis, adrenal insufficiency, pulmonary fibrosis, and cardiac decompensation 192 193 194 …”

“…schwere Störungen wie Diabetes insipidus, Kleinhirn- und Pyramidenbahnzeichen, Hirnnervenlähmungen, Nebenniereninsuffizienz, pulmonale Fibrosierung und kardiale Dekompensation möglich 192 193 194 …”

Imaging of Histiocytosis in the Era of Genomic Medicine

“…Orbital involvement is rare but has a poor prognosis with progressive loss of vision. It typically manifests as exophthalmos owing to a retro-orbital mass, which is hypointense on both T1-and T2-weighted images (69). In a recent retrospective study of 32 patients with ECD who…”