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

• Main Authors: Szu-Yin Tseng, Dau-Ming Niu, Tzu-Hung Chu, Yi-Chen Yeh, Man-Hsu Huang, Tsui-Feng Yang, Hsuan-Chieh Liao, Chuan-Chi Chiang, Hui-Chen Ho, Wen-Jue Soong, Chia-Feng Yang
• Format: Article
• Language: English
• Published: Elsevier 2019-09-01
• Series: Molecular Genetics and Metabolism Reports
• Online Access: http://www.sciencedirect.com/science/article/pii/S2214426919300643

Background: This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy(ERT) for 19 months and developed multiple Gaucheroma. The literature was reviewed. Methods: The medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. Enzyme assay and gene mutations confirmed GD. ERT was administered. When the boy was 3 years old, multiple masses were discovered from abdominal MRI and biopsy revealed Gaucheroma. We reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies. Conclusion: Gaucheroma is a rare condition in regularly treated GD patients. This patient 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 ERT treatment, due to the possibility of having a deteriorating change, like Gaucheroma. Keywords: Gaucher disease, Gaucheroma, Enzyme replacement therapy(ERT), Lysosomal storage disease(LSD), Liver mass