糖元储积病为一罕见之疾病,天津医大病理解剖教研组于1958年初尸检一例,报导如下:病历摘要舒××,女,2周岁,于1954年3月5日因高烧一天,腹胀约20个月,急症入院。当患儿5-6个月时发现腹部逐渐胀大,在18个月时腹部增大甚速,曾去某医院检查称系“肝脏肿瘤”。患儿较一般常儿瘦小,智力发育较差。2岁多时才会叫爸爸、妈妈、大小便等语。家属史:父母无结核史及性病史。体格检查:体温39.3℃,身长74厘米,体重22磅。急性病容,神志清楚,软弱无力,营养尚可,全身肌肉松弛,下肢尤甚。心肺未见异常,腹部高超,肝下缘位于右侧锁骨中线之肋缘下11.5厘米,剑突下6厘米,左锁骨中线肋缘下9厘米,光滑无触痛。脾未捫及。化验结果:血液:红血球405万,血红蛋白12.3克,白血球7250,分类:淋巴球58%,中性多核球41%,嗜伊红球1%。血糖78毫克%,胆固醇368毫克%。凡登白氏直接反应(-),间接反应(+)。胆红质0.24毫克%。麝香草酚混浊度试验11.9单位。小便检查:酸性,蛋白微量,糖(-),白血球0—2/高倍视野。酮体(-)。肌酐75毫克%。肌酸125毫克%。大便:隐血((?))红血球0—1/高 Glycogen storage disease is a rare disease, Tianjin Medical University, Department of Pathology and Anatomy Teaching and Research group in early 1958 an autopsy, reported as follows: Medical records Shu XX, female, 2 years old, on March 5, 1954 due to high fever for one day, bloating about 20 Month, emergency admission. When children with 5-6 months found that the abdomen gradually swollen, abdomen in 18 months to increase very quickly, had to go to a hospital called the Department of “liver cancer.” Children than the average child often thin, poor mental development. 2 years old will be called father, mother, urine and other language. Family history: Parents without TB history and venereal disease history. Physical examination: body temperature 39.3 ℃, length 74 cm, weighing 22 pounds. Acute illness, conscious, weakness, nutrition is acceptable, the whole body muscle relaxation, especially the lower extremities. Cardiopulmonary no abnormalities, abdomen superb, the lower edge of the liver is located in the right side of the midline of the subclavian rib 11.5 cm, 6 cm below the xiphoid, 9 cm under the left clavicle midline rib margin, smooth and tender. Spleen not palpable. Laboratory results: blood: 4.05 million red blood cells, hemoglobin 12.3 grams, 7250 white blood cells, classification: lymphocytes 58%, 41% of neutral multinucleated nuclei, eosinophilic ball 1%. Blood sugar 78 mg%, cholesterol 368 mg%. Fadon white direct response (-), indirect reaction (+). 0.24 mg of bilirubin. Thymol turbidity test 11.9 units. Urine examination: acidic, trace protein, sugar (-), white blood cells 0-2 / high power field. Ketone body (-). Creatinine 75 mg%. Creatine 125 mg%. Stool: occult blood ((?)) Red blood cells 0-1 / high