Clinical, diagnostic and therapeutic aspects of Mauriac syndrome, a complication of type 1 diabetes mellitus: A systematic review

This systematic review aimed to present the main clinical, diagnostic and therapeutic aspects of Mauriac syndrome, which is a rare syndrome that mainly affects children and adolescents with uncontrolled type 1 diabetes mellitus. This review was carried out in accordance with PRISMA and registered in PROSPERO (CRD42024531249). The following databases were used in our search: PubMed, Lilacs and Scielo, on 04/02/2024. Studies that presented any data on patients with Mauriac syndrome were included, however, review studies, letters to the editor and animal studies were excluded. The risk of bias was assessed using a specific method for case reports. To analyze the results, the general, clinical, diagnostic and therapeutic characteristics were analyzed using a qualitative analysis. A total of 24 studies were included, 18 case reports and 6 case series. The patients’ mean age was 16.26 years, and the mean glycated hemoglobin was 12.93%. The main signs and symptoms reported were hepatomegaly (88%), short stature (52%), cushingoid features (35%) and abdominal discomfort (26%). The means of AST, ALT, GGT, alkaline phosphatase, total cholesterol, triglycerides and lactate were above the reference value. Some studies used abdominal ultrasound (US), abdominal computed tomography (CT) or liver biopsy to make the diagnosis. CT and US showed hepatomegaly, while liver biopsies showed glycogen accumulation in hepatocytes. Treatment in most studies was based on improving blood glucose levels and diet. Therefore, Mauriac syndrome has diverse symptoms. Lab test and imaging modalities can be useful to establish diagnosis.