Work

Case Report: Pediatric Erdheim-Chester disease with bilateral chorioretinal and central nervous system infiltration

Year: 2026

Type: article

Abstract: Erdheim-Chester disease (ECD) is a rare histiocytic disorder characterized by the infiltration of tissues with foamy, xanthomatous CD68/CD163-positive, CD1a-negative histiocytosis. Pediatric ECD with chorioretinal involvement is exceedingly rare. Clinical manifestations and ophthalmic imaging findings are atypical, leading to misdiagnosis or missed diagnosis. From an ophthalmological perspective, we share an extremely rare case of pediatric ECD with chorioretinal and central nervous system infiltration, highlighting the diagnostic challenges and expanding the phenotypic spectrum of intraocular manifestations.

Source: Frontiers in Medicine

DOI: 10.3389/fmed.2026.1796505

Authors: Hongyu Zhong, Licong Liang, Fang Lu

Institutions: Sichuan University, West China Hospital of Sichuan University

Language: English

Topic: Histiocytic Disorders and Treatments

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801