Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

Radiology Case Reports

article

Tomohiro Ishii¹  Tomonobu Hasegawa¹  Takeshi Sato¹  Mikako Inokuchi¹  Satsuki Nakano¹  Yu Iwabuchi¹  Tetsu Hayashida¹ 

[1] Department of Pediatrics, Keio University School of Medicine

关键词: Fluorodeoxyglucose-positron emission tomography;    Functional diagnosis;    Glycogen storage disease type I;   

DOI  :  10.1016/j.radcr.2022.09.084

学科分类：生物化学工程

来源: University of Washington * Department of Radiology

【 摘 要 】

A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left mammary gland . We consider that high fluorodeoxyglucose accumulation in the liver of patients with glycogen storage disease type I is caused by impaired glucose-6-phosphate metabolism due to the congenital deficiency of glucose-6-phosphatase activities in hepatocytes. This study describes fluorodeoxyglucose-positron emission tomography as a potential alternative tool to diagnose glycogen storage disease type I functionally.

【 授权许可】

CC BY|CC BY-NC-ND