Very rare condition of multiple Gaucheroma: A case report and review of the literature

• Published in: Molecular genetics and metabolism reports Vol. 20; p. 100473
• Main Authors: Tseng, Szu-Yin, Niu, Dau-Ming, Chu, Tzu-Hung, Yeh, Yi-Chen, Huang, Man-Hsu, Yang, Tsui-Feng, Liao, Hsuan-Chieh, Chiang, Chuan-Chi, Ho, Hui-Chen, Soong, Wen-Jue, Yang, Chia-Feng
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2019; Elsevier
• Subjects: Enzyme replacement therapy(ERT); Gaucher disease; Gaucheroma; Liver mass; Lysosomal storage disease(LSD); Short Communication; Gaucher disease; Liver mass; SRT; DBS; ERT; Enzyme replacement therapy(ERT); Lysosomal storage disease(LSD); LSD; Gaucheroma; GD; GD, Gaucher disease; LSD, Lysosomal storage disease; ERT, Enzyme replacement therapy; SRT, substrate reduction therapy; DBS, dried blood test
• ISSN: 2214-4269; 2214-4269
• DOI: 10.1016/j.ymgmr.2019.100473

This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy (ERT) for 19 months and then developed multiple Gaucheroma. Review of literature was performed simultaneously. The medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. GD was confirmed by enzyme assay and gene mutations. ERT was administered right after the diagnosis. When the boy was 3 years old, multiple masses were discovered during a regular checkup abdominal MRI and biopsy revealed Gaucheroma. We also reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies. Gaucheroma is a rare condition of regularly treated GD patients. This patient even showed poor response to doubled ERT doses. The imaging studies are necessary for Gaucher patients to detect Gaucheroma and determine their malignancy. Regular checkups are recommended in all GD patients even with regular treatment, due to the possibility of having deteriorating change, like Gaucheroma.