Author(s): Oliveira Torres, João ; Martins, Diana ; Abegão Matias, Alexandra ; Gião, Nuno ; Dutra, Eduardo ; Malheiro, Rui ; Mendes, Milena ; Silva-Nunes, José
Date: 2025
Persistent ID: http://hdl.handle.net/10362/188420
Origin: Repositório Institucional da UNL
Subject(s): glycogenic hepatopathy; hepatomegaly; Mauriac syndrome; type 1 diabetes mellitus; Internal Medicine; Endocrinology, Diabetes and Metabolism; SDG 3 - Good Health and Well-being
persons
Mauriac syndrome is a rare complication in patients with type 1 diabetes. It presents with poor glycemic control and hepatomegaly due to extensive liver glycogen deposition. Whether behavioral or genetic factors play key roles in its pathophysiology remains a subject of debate. We present the case of a 19-year-old woman with poorly controlled type 1 diabetes mellitus and persistently elevated liver enzymes who arrived at the emergency department with diabetic ketoacidosis and hepatomegaly. Blood tests revealed the absence of an associated viral or autoimmune liver disease. Transient liver elastography showed moderate steatosis. Liver biopsy results were consistent with glycogen hepatopathy. Sequencing of genes associated with glycogen storage diseases revealed no pathogenic variants, supporting a non-genetic mechanism for Mauriac syndrome. Insulin regimen and dietary plan were reviewed. Distinction of glycogenic hepatopathy from metabolic dysfunction-associated fatty liver disease is often difficult and frequently only possible through liver biopsy. An accurate diagnosis of Mauriac syndrome carries important prognostic information, as associated hepatomegaly tends to regress through optimization of glycemic control. Learning points • Mauriac syndrome is a rare complication of poorly controlled type 1 diabetes, presenting with elevated liver enzymes and hepatomegaly due to extensive liver glycogen deposition. • Liver biopsy plays a key role in distinguishing glycogenic hepatopathy from metabolic-associated steatotic liver disease. • Adequate glycemic control often leads to hepatomegaly regression and normalization of liver enzyme levels in Mauriac syndrome.
