Abstract: Objective To investigate the clinical and pathological features of glycogen storage disease (GSD).Methods The clinical and pathological data of 97 patients with GSD diagnosed by liver biopsy were analyzed retrospectively.Results There were 75 male patients (77.3%) and 22 female patients (22.7%) enrolled with average of (4.68 ± 5.973)- years old. Ninety-seven GSD patients had different degrees of hepatomegaly and liver dysfunction. Seventy three cases (72.3%) had different degrees of hypoglycemia. Among them, 3 cases (3.1%) had hypoglycemia convulsion, 24 cases (24.7%) had low body weight, 11 cases (11.3%) had growth retardation and 8 cases (8.2%) were emaciated.Under the light microscope, the main changes of liver pathological tissue are as follows: diffuse swelling of hepatocytes, some cytoplasmic cavitation, small nucleus in the middle, plant cell like hepatocytes, a few focal necrosis; a small amount of mixed inflammatory cell infiltration, perisinusoidal fibrosis; expansion of the portal area, a small amount of inflammatory cell infiltration, formation of microfibril septum, no clear interfacial inflammation. PAS staining of liver was positive. Seventeen cases (17.5%) had inflammation, 74 (76.3%) of G1, 6 (6.2%) of G2, 22 (22.7%) of fibrosis, 31 (32%) of S2, 26 (26.8%) of S3, 18 (18.5%) of S4, 2 (2.1%) had multiple adenomas, and 1 (1.0%) had liver cancer.Conclusion GSD mainly occurs in children, most of them have abnormal liver, transaminase and hypoglycemia. Liver biopsy is the main method to diagnose GSD, and positive glycogen staining is the specific pathological feature of GSD, but classification depends on gene detection.

Key words: Glycogen accumulation disease, clinical feature, Pathology