Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus

Abstract

Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly. However, the sole presenting feature of Mauriac syndrome can be hepatic glycogenosis in both adults and children. The mainstay of treatment for hepatic glycogenosis is strict control of glucose levels, with an excellent prognosis with improved glycaemic control. The authors present the case of a 22-year-old female patient with type 1 diabetes mellitus and a history of poor glycaemic control who was admitted with diabetic ketoacidosis (DKA). She complained of episodes of right upper quadrant abdominal pain associated with nausea and vomiting for the last 2 months with worsening in the last 48 hours. Physical examination was remarkable for short stature and tenderness over the hepatic area with a mildly enlarged liver. The patient had elevated liver enzymes and persistent hyperlactacidaemia despite DKA resolution. Liver imaging suggested diffuse fat infiltration. The clinical suspicion of hepatic glycogenosis was confirmed by liver biopsy. After glycaemic control was improved, liver enzymes normalized and the episodes of abdominal pain, nausea and vomiting subsided.LEARNING POINTSHepatic glycogenosis can be the sole presenting feature of Mauriac syndrome.Hepatic glycogenosis is an under-recognized cause of abdominal pain in patients with type 1 diabetes mellitus.Hepatic glycogenosis may be confused with non-alcoholic fatty liver disease, with important therapeutic implications and a distinct prognosis.The mainstay of treatment for hepatic glycogenosis is strict glycaemic control with an excellent prognosis when achieved.

A Case Report about Glycogenic Hepatopathy

“…The pathophysiology of the syndrome is thought to be due to impaired glucose utilization in tissues and decreased insulin-like growth factor-1 (IGF-1) and growth hormone levels or receptor resistance to the hormone's action. Mauriac syndrome presents more often in type 1 diabetes but can affect other people, and the sole presentation could be hepatic glycogenosis [ 4 , 5 ].…”

Selected musculoskeletal disorders in patients with thyroid dysfunction, diabetes, and obesity

“…Mauriac syndrome is diagnosed in young patients with poor metabolic control of T1DM [59]. Low stature in patients suffering from Mauriac syndrome probably results from a deficiency of insulin-like growth factor-1 (IGF-1) or growth hormone [64].…”