Li Xiaoming, Jing Hui, Cheng Lin, Xia Jie, Wang Jian, Li Qing, Liu Chen, Cai Ping
Department of Radiology, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Department of Radiology, Shan Xi Medical University, Taiyuan, China.
Quant Imaging Med Surg. 2021 Jun;11(6):2785-2791. doi: 10.21037/qims-20-746.
Glycogen storage disease type Ia (GSD Ia) is a rare disease caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase). Here, we report a 17-year-old Chinese boy with GSD Ia. Clinical manifestations of the patient included hepatomegaly, growth retardation, doll face, and biochemical abnormalities, including hypoglycaemia, hyperuricaemia, and hyperlipidaemia. The computed tomography (CT) and gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid (Gd-EOB-DTPA) magnetic resonance imaging (MRI) revealed multiple masses in the left and right hemiliver. These masses presented as different dynamic enhanced patterns in the Gd-EOB-DTPA MRI. In addition, a large amount of glycogen deposit was detected in the liver tissue biopsy. Liver puncture confirmed that the masses were hepatocellular adenomas (HCAs). Genetic analyses confirmed the presence of liver metabolic disease, and the final clinical diagnostic was GSD Ia. The patient's clinical manifestations were significantly improved following regular treatment with raw corn starch for 9 months. Unfortunately, it was suspected that parts of the adenoma had undergone malignant transformation.
糖原贮积病 Ia 型（GSD Ia）是一种由肝葡萄糖 -6-磷酸酶（G6Pase）缺乏引起的罕见疾病。在此，我们报告一名 17 岁的中国 GSD Ia 型男孩。患者的临床表现包括肝肿大、生长发育迟缓、娃娃脸以及生化异常，如低血糖、高尿酸血症和高脂血症。计算机断层扫描（CT）和钆塞酸二钠（Gd - EOB - DTPA）磁共振成像（MRI）显示左右半肝有多个肿块。这些肿块在 Gd - EOB - DTPA MRI 中呈现出不同的动态增强模式。此外，肝组织活检检测到大量糖原沉积。肝脏穿刺证实这些肿块为肝细胞腺瘤（HCAs）。基因分析证实存在肝脏代谢疾病，最终临床诊断为 GSD Ia。患者经9个月的生玉米淀粉常规治疗后，临床表现明显改善。不幸的是，怀疑部分腺瘤已发生恶变。
