A case of glycogen storage disease type Ⅰa with gout as the first manifestation / 浙江大学学报·医学版

A 24-year-old male was admitted due to recurrent redness, swelling, fever and pain in the ankle, frequently accompanied by hungry feeling. Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints. The laboratory examination results indicated hyperlipidemia, high lactate lipids, and low fasting blood glucose. Histopathology of liver biopsy showed significant glycogen accumulation. The results of gene sequencing revealed the compound heterozygous mutations of the G6PC gene c.248G>A (p.Arg83His) and c.238T>A (p.Phe80Ile) in the proband. The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. After giving a high starch diet and limiting monosaccharide intake, as well as receiving uric acid and blood lipids lowering therapy, the condition of the patient was gradually stabilized. After a one-year follow-up, there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.

Case report of hepatic adenoma with hemorrhage in glycogen storage disease type Ⅰa / 基础医学与临床

Objective To analyze and summarize the clinical characteristics of patients with spontaneous hemor -rhage of hepatic adenoma in glycogen storage disease type Ⅰa.Methods Reporting 1 case in our hospital and making a summary about general situation , category, etiology, diagnosis and treatment of the hemorrhage of hepatic adenoma with glycogen storage disease type Ⅰa through checking literatures .Results The patient was a 27 year old male who had been diagnosed as glycogen storage disease for 14 years, as well as was first found hepatic adeno-ma at the age of 17 .He once was diagnosed as intra-adenoma bleeding with persistent abdominal pain and dizziness and was underwent selective hepatic artery embolization at the age of 22.Hepatic adenoma in glycogen storage dis-ease typeⅠa generally appeared at the age of puberty .One common complication of this disease was hemorrhage of hepatic adenoma , which can be found by ultrasonography and CT .Clinical management includs observation , selec-tive hepatic artery embolization , radiofrequency ablation , surgical resection and liver transplantation .Conclusions Glycogen storage disease type Ⅰa is an autosomal recessive genetic disease with hepatic adenoma as a common complication of GSD Ⅰa, serious liver adenoma's hemorrhage can be life threatening , the radiological examination can be helpful to detect hepatic adenoma .Then appropriate intervention can improve the life quality and prognosis .