Mauriac syndrome

Mauriac first defined glycogenic hepatopathy (GH) in 1930 in a child with brittle diabetes, as a component of Mauriac syndrome, characterized by delayed development, hepatomegaly, cushingoid appearance, and delayed puberty.

From hepatology image of the month in Oct 23 2015 by Seth Sweetser MD from mayo clinic:

A 27-year-old man with poorly controlled type 1 diabetes mellitus (average hemoglobin A1c of 15%) presented with a 1-week history of progressive pressure-like right upper abdominal discomfort associated with early satiety and nausea. On physical exam, he had firm hepatomegaly extending into the right pelvis. Laboratory testing revealed an aspartate aminotransferase = 6720 U/L (normal, 8–43 U/L), alanine aminotransferase level = 2549 U/L (normal, 7–45 U/L), alkaline phosphatase = 529 U/L (normal, 41–108 U/L), total bilirubin = 1.7 mg/dL (normal 0.1–1.0 mg/dL), with direct bilirubin = 1.5 mg/dL (normal 0.0–0.3 mg/dL) and a normal international normalized ratio. A computed tomography (CT) scan of the abdomen showed massive hepatomegaly of increased density as compared to the spleen (Fig. 1). Infectious and autoimmune causes of liver disease were excluded by laboratory testing.

 

A liver biopsy was obtained and revealed preserved parenchymal architecture and enlarged pale hepatocytes (Fig. 2) with abundant cytoplasmic glycogen deposits demonstrated by periodic acid-Schiff stain (Fig. 3) and diastase digestion removing the glycogen resulting in “ghost cells” (Fig. 4). These histologic findings are characteristic of glycogenic hepatopathy.  

History of poorly controlled DM, acute liver injury (marked elevation in aminotransferases and characteristic histologic changes on liver biopsy are diagnostic of glycogen hepatopathy (GH)

The other main cause of liver enlargement and deranged liver tests related in diabetes mellitus is fatty liver.

Fatty liver	Glycogenic hepatopathy
hyperinsulinemia	Insulin deficiency
Mild elevation in liver enzymes	Marked elevation in liver enzymes
Hypodense liver on CT	Hyperdense on CT, bright liver on CT scan without contrast can be the clue

Possible pathogenesis:

 

Hyperglycemia and overinsulinization are believed to be metabolic preconditions for hepatic glycogen accumulation in GH. Hyperglycemia activates glycogen synthase by inhibiting glycogenesis via glycogen phosphorylation inactivation. Glycogen accumulation further increases because insulin also activates glycogen synthase.

Hepatic glycogen accumulation occurs despite the high cytoplasmic glucose concentration in the presence of insulin. Therefore, frequent hyperglycemic episodes and the following insulin therapies

are believed to be the primary pathogenetic mechanisms of hepatomegaly and liver function disorder that develop in type 1 diabetic patient due to glycogen accumulation.

 

Treatment:

GH therapy is performed via establishing glycemic control. Tight glycemic control, providedvia intensive insulin therapy, results in full remission of clinical, laboratory, and histologic abnormalities