Mauriac syndrome: a rare complication in patients with type 1 diabetes mellitus

Abstract

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.

Keywords

• mauriac syndrome
• hepatomegaly
• type 1 diabetes mellitus
• glycogenic hepatopathy