Abdominal radiological findings in pediatric glycogen storage disease pre and post liver transplantation

Our aim is to review the imaging findings of glycogen storage disease (GSD), both pre and post liver transplantation. From March 1996-October 2006, 13 living donor liver transplantation and one split liver transplantation for GSD were performed. The transplant records were reviewed. There were 9 female and 5 male patients. All were non-responsive to medical treatment. Ten patients had GSD type I and 4 had GSD type III. All type I patients were subtype Ia. Of the 4 children with type III, 2 were subtype IIIa based on debranching enzyme deficiency in the liver and muscle tissue biopsies. In 2 GSD type III patients, only liver biopsies were done. The mean age, weight, and height were 8.2 years, 23 kg and 114 cm respectively. The mean liver volume was 1366 cm ³. The imaging findings in GSD type I were hepatomegaly (10/10), enlarged kidney (10/10), increased renal medullary echogenicity (10/10), hypervascularity of the hepatic tumor (2/10), nephrocalcinosis (1/10), and splenomegaly (1/10) before liver transplantation. Post liver transplantation, the increased renal medulla echogenicity and spleen size both return to normal. In GSD type III, the imaging findings included hepatomegaly (4/4), enlarged liver with lobulated contour (1/4), and splenomegaly (1/4). The spleen size reverted to normal size post liver transplantation. In summary, the common imaging findings in GSD type I include hepatomegaly without cirrhotic change and nephromegaly with increased echogenicity of the renal medulla. In contrast, in GSD type III, the findings revealed hepatomegaly without nephromegaly. Post liver transplantation, the increased renal medulla echogenicity and spleen size both return to normal.