Characteristic Liver Manifestations of Glycogen Storage Disease Type Ⅰa: A Retrospective Study of 82 Cases

  Objective  To summarize the characteristic liver manifestations of glycogen storage disease type Ⅰa(GSD Ⅰa).

  Methods  We retrospectively analyzed the clinical data and liver image results of 82 genetically diagnosed GSD Ⅰa patients hospitalized in Peking Union Medical College Hospital between January 2006 and December 2013, and summarized the characteristics of liver involvement of these patients.

  Results  The 82 patients included 55 boys and 27 girls. Their symptoms developed at the mean age of (1.2±0.9) years. Forty-two patients (54.9%) visited doctors because of hepatomegaly. Eleven(13.4%) had hepatic adenomas, which appeared at the age of (15.7±3.0) years (12-23 years). Among them, 63.6% (7/11) had multiple adenomas, and the other(36.4%, 4/11) had single ones. The single adenomas were all located in the right lobe of the liver, and the multiple adenomas all involved both left and right lobes of the liver. One child received hepatic arterial embolization. One child had adenoma with canceration.

  Conclusions  GSD Ⅰa is one of the most common hereditary metabolic diseases, which can cause hepatomegaly in chidren and liver adenoma in adolescents, some developing into cancer. Regular follow-up with abdominal ultrasound examination is important. In differential diagnosis of multiple liver adenomas of unknown origin in older children, attention should be paid to the possibility of GSD Ⅰa.