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

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

doi:10.1016/j.ymgmr.2019.100489

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

Mol Genet Metab Rep. 2019 Jul 12:20:100489. doi: 10.1016/j.ymgmr.2019.100489. eCollection 2019 Sep.

Authors

Szu-Yin Tseng^{1

2}, Dau-Ming Niu^{1

2}, Tzu-Hung Chu^{1

2}, Yi-Chen Yeh³, Man-Hsu Huang³, Tsui-Feng Yang⁴, Hsuan-Chieh Liao^{5

6}, Chuan-Chi Chiang⁵, Hui-Chen Ho⁷, Wen-Jue Soong¹, Chia-Feng Yang^{1

8}

Affiliations

¹ Department of Pediatrics, Taipei Veterans General Hospital, Taiwan, ROC.
² Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.
³ Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taiwan, ROC.
⁴ Physical Medicine and Rehabilitation Department, Taipei Veterans, General Hospital, Taiwan, ROC.
⁵ The Chinese Foundation of Health Neonatal Screening Center, Taiwan, ROC.
⁶ Institute of Clinical Medicine, National Yang-Ming University, Taiwan, ROC.
⁷ Taipei Institute of Pathology, Taiwan, ROC.
⁸ Institute of Environmental and Occupational Health Sciences, National Yang-Ming University, Taiwan, ROC.

Abstract

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: DBS, dried blood test; ERT, Enzyme replacement therapy; Enzyme replacement therapy(ERT); GD, Gaucher disease; Gaucher disease; Gaucheroma; LSD, Lysosomal storage disease; Liver mass; Lysosomal storage disease(LSD); SRT, substrate reduction therapy.