Hepatic adenomatosis in glycogen storage disease: Radio-pathological correlation
Joao M Louro a , ∗, Ana M Alves a , Jose R Brandao b , Manuela Franca a
a Department of Radiology, Centro Hospitalar Universitário do Porto EPE, Porto 4099-001, Portugal
b Department of Anatomical Pathology, Centro Hospitalar Universitário do Porto EPE, Porto 4099-001, Portugal
Abstract：Glycogen storage disease type I (GSD type I), also known as von Gierke disease, is an autosomal recessive disorder of the glycogen metabolism pathway, caused by a deficiency of glucose-6-phosphatase (GSD type Ia) or glucose-6-phosphate translocase (GSD type Ib) [1]. These enzymes are crucial in the last step of both glycogenolysis and gluconeogenesis, and their deficiency results in excessive glycogen and fat accumulation in the liver, kidney and intestinal mucosa [1]. GSD type I has an overall incidence of 1/10 0,0 0 0 live births [1], and 80% of patients are type Ia [2]. Patients commonly present between 3 and 6 months of age with severe hypoglycemia, hepatomegaly, hypertriglyceridemia and growth retardation. They often develop renal disease, hyperuricemia and, in those with GSD type Ib, recurrent infections due to neutropenia. Diagnosis is usually straightforward; nevertheless, genetic testing is necessary for confirmation [1,2].
2021, Vol. 20 
