The barriers of diagnosis: A clinical case of Mauriac syndrome
Mauriac syndrome is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and is characterized by growth retardation, delayed puberty, cushingoid features, hypercholesterolemia and hepatomegaly. However, the sole presenting feature of Mauriac Syndrome can be hepatic glycogenosis (glycogen accumulation in hepatocytes) in both adults and children. This case reports an 18 -year-old patient with possible Mauriac syndrome. It was very difficult confirming Mauriac syndrome, due to lack of compliance and acknowledgement of his medical condition. Differential diagnosis is made with non-alcoholic fatty liver disease and with non-alcoholic steatohepatitis. These two, in time, can progress to cirrhosis and later to hepatocellular carcinoma, whereas Mauriac syndrome is potentially reversible with optimal diabetes control.