SUN-523 - Mauriac Syndrome as a Complication of Uncontrolled Type 1 Diabetes: Glycogenic Hepatopathy Mimicking NAFLD/NASH

Background:
Mauriac syndrome is a rare complication of poorly controlled Type 1 Diabetes Mellitus (T1DM), characterized by glycogenic hepatopathy, hepatomegaly, and growth failure. Despite modern insulin therapy, it persists in patients with insulin nonadherence or severe glycemic variability. It may closely mimic nonalcoholic fatty liver disease (NAFLD), often leading to misdiagnosis, extensive diagnostic evaluation, and delayed appropriate treatment. Early recognition is essential, as glycogenic hepatopathy is highly reversible with restoration of glycemic control.


Case Presentation:
A 20-year-old female with T1DM since early childhood presented with recurrent hypoglycemia leading to insulin omission, followed by persistent hyperglycemia, marked glycemic variability, and HbA1c of 17%. This resulted in recurrent diabetic ketoacidosis and a profound catabolic state with severe weight loss and growth failure (4'11", BMI 14.7 kg/m²). She developed progressive hepatomegaly and severe hepatocellular transaminitis (AST >3000 U/L, ALT >1000 U/L). Liver ultrasound demonstrated hepatomegaly with diffusely increased echogenicity. FibroScan showed an elevated controlled attenuation parameter (CAP 325-S3) with normal liver stiffness (4.6-F0), suggesting steatosis without fibrosis. Extensive evaluation for viral/autoimmune/metabolic etiologies was negative. Liver biopsy confirmed glycogenic hepatopathy with PAS-positive, diastase-sensitive glycogen accumulation and no fibrosis. She was transitioned to insulin pump therapy without steroids. At 4 months, HbA1c and transaminases improved dramatically, demonstrating the reversibility of this condition.



Discussion:
Mauriac syndrome remains an underrecognized but reversible complication of poorly controlled T1DM. The combination of severe transaminitis, hepatomegaly, growth failure, and recurrent DKA reflects profound metabolic dysregulation from chronic hyperglycemia with intermittent insulin exposure. This leads to hepatic glycogen synthase activation, excessive glycogen deposition, hepatocyte swelling, and liver enlargement. FibroScan cannot distinguish hepatic fat from glycogen, making imaging potentially misleading as both steatosis and glycogen accumulation can increase CAP and echogenicity. In our case, normal liver stiffness supported absence of fibrosis and a reversible process. AST-predominant transaminitis is nonspecific but supported glycogenic hepatopathy, which was confirmed on biopsy by PAS-positive glycogen deposition without fibrosis.



Conclusion:
The marked reversibility with insulin optimization underscores the importance of early recognition of glycogenic hepatopathy. Endocrinologists should maintain a high index of suspicion in patients with poorly controlled Type 1 Diabetes Mellitus presenting with unexplained hepatomegaly and transaminitis.

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