Glycogen storage disease typeI complicated with hepatocellular carcinoma:a case report and literature review

Objective To summarize and analyze clinical characteristics of glycogen storage disease (GSD)typeⅠcomplicated with hepatocellular carcinoma to improve clinical recognition to it.Methods First case of GSD type Ia complicated with hepatocellular carcinoma(HCC)in China was reported and another 14 cases with detailed clinical data reported in literatures were reviewed in this paper.Results The case was man at age of 19 with chief complaint of hepatic mass founded casually.For all the 15 cases(other 14 from literature reports),mean age at diagnosis of HCC was 32.3 years and average time interval from diagnosis of GSD to diagnosis of HCC Was 23.1 years,as compared to 23.3 years and 14.6 years,respectively in three cases with both hepatitis B virus(HBV)and hepatitis C virus(HCV)seropositive.Serum level of alpha fetoprotein(AFP)was elevated in six patients.Tumor could be located at all lobes of the liver and mainly in the right lobe(eight of 15 cases),with varied size and solitary or multiple tumor.Conclusions Symptoms in GSD typeⅠcomplicated with HCC Was latent at onset.and AFP measurement was questionable in its diagnosis.It is important that physicians should keep more alert to risk of HCC in patients with GSD for its early diagnosis. Key words: Glycogen storage disease,type I; Carcinoma,hepatocellular