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

被引：3

作者：

Zhang, Tianbo ^{[1
]}

Zhang, Xialin ^{[1
]}

Zhang, Ningning ^{[2
]}

Yan, Junrong ^{[1
]}

Wang, Lina ^{[1
]}

Yan, Weihong ^{[1
]}

Yu, Zhuanzhuan ^{[1
]}

Zhang, Yonghong ^{[3
,4
]}

Duan, Yanlong ^{[3
,4
]}

Zhang, Ruijuan ^{[1
]}

机构：

[1] Shanxi Med Univ, Shanxi Bethune Hosp, Tongji Shanxi Hosp, Shanxi Acad Med Sci,Hosp 3, Taiyuan 030032, Peoples R China

[2] Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Radiol, Beijing 100045, Peoples R China

[3] Capital Med Univ, Beijing Childrens Hosp, Pediat Oncol Ctr, Natl Ctr Childrens Hlth,Med Oncol Dept, Beijing, Peoples R China

[4] Minist Educ, Beijing Key Lab Pediat Hematol Oncol, Key Lab Major Dis Children, Beijing 100045, Peoples R China

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2024年 / 39卷

关键词：

Gaucher disease; Gaucheroma; Protein-losing enteropathy; Lymphadenopathy; INVOLVEMENT; LYMPHADENOPATHY; CHILDREN; THERAPY;

D O I：

10.1016/j.ymgmr.2024.101075

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 developed, with subsequent Cranial MRI revealing thalamic damage, leading to a reclassification as type 3 GD. By age of 20, the patient presented with a range of symptoms, including abdominal pain, diarrhea, hypoproteinemia, multiple lymphadenopathy, edema, and Gaucher cell infiltration in the lymph nodes. Comprehensive diagnosis identifies Gaucher tumor and protein-losing enteropathy. Imiglucerase therapy at 90-120 U/kg every 2 weeks significantly improved clinical symptoms, emphasizing the importance of tailored interventions for managing GD manifestations.

引用

页数：3

共 14 条

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