Endocrine Abstracts

We report the case of a 34-year-old woman with a personal history of type 1 diabetes mellitus (DM1) since she was 9 years old. Very poor chronic metabolic control stands out despite multiple insulin schemes with multiple complications: nephropathy, retinopathy and peripheral neuropathy. She was admitted to the hospitalization floor due to diabetic ketoacidosis. At admission Hba1c of 15.3%. During admission after treatment with IV insulin, improvement in glycemic control. Nine days after admission, she began with symptoms of edema in all 4 limbs, distension, and abdominal pain. On examination, she presented a height smaller than expected (150 cm), slightly overweight (59 kg) and extensive hepatomegaly. Liver function tests showed an increase in transaminases (GOT 359 IU/l, GPT 210 IU/l) and alkaline phosphatase (190 IU/l). Viral and autoimmune etiology was ruled out. An abdominal ultrasound was performed, showing a large hyperechogenic homogeneous hepatomegaly. It was decided to perform a percutaneous liver biopsy, which revealed a liver parenchyma with preserved architecture, with hepatocytes with large, clear cytoplasm, with a striking membrane and some empty nuclei with a glucogenic appearance. Cytoplasms show intense periodic acid-Schiff (PAS) staining, but PAS-diastase negativity, confirming cytoplasmic glycogen deposition. No reticulin fibrosis, inflammation, or steatosis is observed. The most probable diagnosis is hepatic glycogenesis secondary to diabetes. Six months later, after improvement in glycemic control, with an Hba1c of 6.6%, normalization of transaminase and alkaline phosphatase levels, resolution of hepatomegaly. The Pierre Mauriac syndrome described in the year 1930, is characterized by growth failure, cushingoid appearance, hepatomegaly and hypertransaminasemia, in a patient with chronic uncontrolled DM1. The most common age of presentation is usually in adolescence, although cases have been described in both children and adults. The hallmark of this syndrome is extreme liver enlargement from massive acucumulation of glycogen. The diagnosis of hepatopathy requires high clinical suspicion and the presence of glycogen accumulation must be corroborated with a liver biopsy. The accumulation of glycogen in hepatocytes is partly caused by long periods of hyperglycemia, in which glucose enters the hepatocyte independently of insulin and is converted to glycogen. Mauriac syndrome is currently a rare cause of liver disease, due to improvements in control and treatment of patients with DM1. However, some cases are described in people with complicated social situations or without therapeutic compliance. This is a reversible condition after improvement in glycemic control with adequate insulinization.