ESPE Abstracts

Introduction: Mauriac syndrome (MS) is a rare complication of Type 1 Diabetes Mellitus (T1D) associated with poor metabolic control. It is characterized by hepatomegaly, hypertransaminasemia, growth failure, delayed puberty. But MS also can be present without the full spectrum of characteristic features. MS is more prevalent in adolescence, although cases in children and adults have been described. Glycogenic hepatopathy is the most prominent component of this syndrome. It is characterized by liver enlargement caused by the reversible accumulation of excess glycogen in the hepatocytes and transient liver disfunction. Difficulties to achieve good control due to reccurent hyper- and hypoglycemic episodes can occur in these patients.

Case: A 16-year-old girl with T1D was reffered to the hospital with DKA. She was underweight but the height was normal. The patient had suffered from T1D for 14 years and had been on intensive insulin regimen via insulin pens. She was diagnosed with Celiac disease and Autoimmune thyroiditis. She is on gluten-free diet and took Levothyroxine. After 13 years of good glycemic control she failed to control glycemia during the last year despite of good compliance and continuous glucose monitoring. 5 episodes of DKA occurred. She also had repeated episodes of hypoglycemia although the glycated haemoglobin persistently higher than 11%. Her insulin doses had been reduced from 0.75 U/kg to 0.1 U/kg and she took the sufficient amount of carbohydrates but hypoglycaemias still occurred. She had lost about 15 kg in a few months. Secondary amenorrhea occured. Significant hepatomegaly and elevation of aminotransferases and triglycerides were found. Hepatic serology and autoimmune work-up were negative. Iron metabolism, bilirubin and coagulation were normal. Liver biopsy was carried out and it showed nuclear glycogenization with mild steatosis. Genetic testing didn’t detect any known disease-causing or rare variants that could explain the patient’s phenotype. We excluded adrenal insufficiency as a reason for frequent hypoglycaemias. She was examined by psychiatrist and Anorexia Nervosa wasn’t diagnosed. The diagnosis of MS variant was assumed.

Conclusion: Currently, MS seems to be a rare condition and the awareness of it is low. Nevertheless, it still exists and should be considered in diabetic patients with hepatomegaly and elevated liver enzymes. In this case we switched our patient from daily injections with an insulin pens to an insulin pump to ensure better glycemic control and try to resolve MS. More long-term follow up is needed to evaluate the benefits of insulin pump therapy.