A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy

A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy

This case report describes a patient initially diagnosed with Gaucher disease (GD) with type I with homozygous mutation c.1448T > C p. (Leu483Pro) at age of 2, presenting with hepatosplenomegaly and cytopenia. Imiglucerase replacement therapy was initiated. At age 17, bilateral hearing loss devel...

Full description

Bibliographic Details
Main Authors: Tianbo Zhang, Xialin Zhang, Ningning Zhang, Junrong Yan, Lina Wang, Weihong Yan, Zhuanzhuan Yu, Yonghong Zhang, Yanlong Duan, Ruijuan Zhang
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Gaucher disease
Gaucheroma
Protein-losing enteropathy
Lymphadenopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000284

Internet

http://www.sciencedirect.com/science/article/pii/S2214426924000284

Similar Items