Association of diffuse liver glycogenosis and mild focal macrovesicular steatosis in a patient with poorly controlled type 1 diabetes

Abstract

We report a case of a 17-year-old female with type 1 diabetes, presenting hepatomegaly and elevated aminotransferases. She received frequent hospitalization for hyperglycaemia and poor glycaemic control (HbA1c = 13%, weight = 52 kg, height = 156 cm, BMI = 21.4). In particular, her compliance to the prescribed diet was poor, with frequent meals and subsequently self-prescribed extra-dose of insulin, in order to control her blood glucose concentrations. During the clinical course she presented hepatomegaly and raised aminotransferase levels (up to AST = 1,620 U/l and ALT = 629 U/l). An extensive evaluation for infectious, autoimmune, toxic, obstructive and metabolic liver disorders (including HAV, HBV, HCV, cytomegalovirus, EBV, ANA, SMA, LKM, AMA, ENA, Wilson’s disease, a1-antitrypsin deficiency, haemochromatosis, ornithine transcarbamylase deficiency, celiac disease) resulted completely negative. An ultrasound (US) scan confirmed an enlargement of the liver with an increased echo level, the absence of the echo attenuation in the deep liver regions and the normal diameters of hepatic and portal veins. A liver biopsy was carried out after 6 months of repeated persisting high aminotransferase levels. Normal lobular structure, absence of portal and lobular inflammation, presence of a mild macrovesicular steatosis with a focal distribution and a large aumont of cytoplasmic glycogen storage with nuclear inclusions in the hepatocytes (Fig. 1), were observed. In order to obtain an improvement of the glycaemic control and a reduction of both hepatomegaly and aminotransferases levels adherence to a hypoglycidic diet, proper psychological support and progressive reduction of insulin requirement were started. In fact, reductions of both HbA1c and GOT/GPT levels (10.7% and 54/61 U/l, respectively), were progressively obtained after over a year of follow-up, even though without reaching a normalization yet, due to a persisting poor diet compliance. Hepatomegaly was reduced but still present.