Shiomi S, Saeki Y, Kim K, Nishiguchi S, Seki S, Kuroki T, Kobayashi K, Harihara S, Owada M
Third Department of Internal Medicine, Osaka City University Medical School, Japan.
Gastroenterol Jpn. 1989 Dec;24(6):711-4. doi: 10.1007/BF02774172.
The case of a 17-year-old female with a rare form of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor is reported. Laparoscopy showed a tumor 50 mm in diameter in the lower portion of the right lobe of the liver. The tumor was biopsied under ultrasonic guidance, and tentatively diagnosed as adenomatous hyperplasia. The patient was also diagnosed as having type VIII glycogenosis (phosphorylase kinase deficiency).
报告了一名17岁女性患罕见的VIII型糖原贮积病并发展为肝硬化和肝细胞肿瘤的病例。腹腔镜检查显示肝脏右叶下部有一个直径50毫米的肿瘤。在超声引导下对肿瘤进行活检,初步诊断为腺瘤样增生。该患者还被诊断为患有VIII型糖原贮积病(磷酸化酶激酶缺乏症)。