ESPE Abstracts

Background: Mauriac syndrome, a rare complication of type I diabetes mellitus (T1DM) results from inadequate glycemic control and excessive insulin therapy. Fluctuating plasma glucose, excessive insulin and glucose administration stimulate glycogen synthase, causing glycogen accumulation in the liver. Furthermore, elevated serum cortisol secretion in Mauriac syndrome inhibits hepatic glycogenolysis while enhancing fatty acid synthesis, worsening liver enlargement. Clinical manifestations include growth failure, delayed puberty, hepatomegaly, abnormal liver enzymes, hypercholesterolemia, and insulin-like growth factor 1 abnormalities, first described in 1930. Diagnosis typically excludes other causes of liver disease, with liver biopsy confirming glycogen accumulation. However, several case reports have demonstrated the complete resolution of these complications with strict glycemic control through adjustments in diet and insulin dosage.

Case: A known case of T1DM girl, diagnosed at six years old, experienced a diabetic ketoacidosis episode at onset and received insulin therapy, initially at 1 unit/kg/day, maintaining HbA1C levels between 7-9%. However, during puberty at nine years old, her compliance declined, leading to HbA1C levels rising to 10-11.5%, necessitating an increased insulin dose to 1.8-2 units/kg/day. At the age of twelve, she experienced intermittent mild right upper quadrant abdominal pain for three months, with no other gastrointestinal symptoms. Physical examination revealed hepatic enlargement without jaundice or cushingoid appearance. Vital signs and other system assessments were unremarkable. Investigations showed normal complete blood count, electrolytes, BUN, creatinine, and urine analysis, However, liver function tests were demonstrated abnormalities, with AST levels at 128 U/L, ALT at 160 U/L, ALP at 144 U/L, total bilirubin at 0.2 mg/dL, and direct bilirubin at 0.1 mg/dL. Her HbA1C was elevated at 11.5%, while fasting blood sugar at 99 mg/dL, cholesterol at 176 mg/dL, triglyceride at 171 mg/dL, LDL at 92 mg/dL, and HDL at 62 mg/dL. Viral hepatitis serology was negative, and upper abdominal ultrasound revealed diffuse hepatic enlargement. Subsequent liver biopsy confirmed glycogen hepatopathy consistent with Mauriac syndrome. After she was admitted for intensive glycemic control by dietary adjustments and insulin dose optimization, her blood sugar was improved leading to resolution of transaminitis and hepatic enlargement within 3 months and normalization of liver function tests within 20 months.

Conclusion: This case demonstrates the rare complication of T1DM, which resolved after intensive glycemic control. It highlights the importance of timely recognition and management of Mauriac syndrome to prevent complications associated with hepatic glycogenosis in T1DM patients.