Characteristic sonographic findings of liver and kidney in patients with glycogen storage disease type I: An analysis of 2 cases / 第二军医大学学报

ABSTRACT

Objective To analyze the characteristic sonographic findings of the liver and kidney in patients with glycogen storage disease type I (GSDI). Methods The clinical data of 2 children, who were pathologically diagnosed as having GSD I in our hospital, were retrospectively analyzed, and the sonographic findings of the liver and kidney were given special attention. Results The two patients were both females, one aged 11 years old and the other aged 19. Both of them had diffused hepatomegaly with meticulous and enhanced internal echoes. One had multiple lesions in the liver, which were proven to be hepatic adenomas, with diffuse enhanced cortical echogenicity in both kidneys, but with no renal calculus. Both patients had a small-sized thyroid and uterus, with short stature and liver dysfunction as clinical presentations. Conclusion A better understanding of the ultrasonic findings of liver and kidneys in GSD I patients can benefit the timely discovery and diagnosis of this systematic metabolic disease.