Hepatic Glycogenosis: A Modern Reality in Children with Type 1 Diabetes

Abstract

Background: Mauriac syndrome (MS) is a rare complication of type 1 diabetes (T1D). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. Case reports of patients with Mauriac syndrome are found infrequently in the literature given historic improvements in diabetes management due to readily available insulin therapy. Case: We report a case of Mauriac syndrome diagnosed in a 15-year-old male. The patient maintained poor glycemic control since childhood, presenting glycated hemoglobin persistently higher than 10% and recurrent episodes of ketoacidosis. He was referred for hepatomegaly evolving for 6 months. The clinical examination objectified a distended abdomen with hepatomegaly at 16 cm. Biological examinations showed hyperglycemia, major cytolysis and cholestasis anicteric. Support based on therapeutic education of the child and his family, as well as adequate insulin therapy have been established. The etiological investigation of hepatic disturbances was negative. The clinical and biological evolution was favorable. The diagnosis of hepatic glycogen storage disease was retained on a bundle of anamnestic and clinical arguments, in the absence of other anomalies responsible for the disturbances liverworts. The diagnostic certainty is histological, and the treatment is based on the equilibration of the diabetes. Conclusion: Although MS is an ancient entity described in T1D, it still exists, particularly in adolescent patients. Being aware of MS is of extreme importance since most of the clinical features are reversible with better glycemic control.