Clinical Report: Evaluation of a Young Patient with Type 1 Diabetes Mellitus and Mauriac Syndrome
Background
Mauriac syndrome is a rare complication of poorly managed type 1 diabetes, particularly in pediatric populations. It is associated with hepatomegaly and elevated liver enzymes. Accurate diagnosis and management are crucial.
Data Highlights
Parameter
Value
Venous Blood Glucose
21.86 mmol/L
HbA1c
10%
pH
6.933
pCO2
31.4 mmHg
Blood Lactate
9.85 mmol/L
Serum Uric Acid
434 to 545 mmol/L
Key Findings
The patient had a history of recurrent diabetic ketoacidosis and poor insulin adherence.
Diagnostic imaging and laboratory tests confirmed glycogenic hepatopathy, a hallmark of Mauriac syndrome.
Continuous intravenous insulin therapy was initiated, followed by a transition to an insulin pump and later to a four-injection regimen.
Despite treatment, the patient was readmitted two months later for diabetic ketoacidosis, indicating ongoing management challenges.
Whole-exome sequencing revealed a homozygous HFE mutation, suggesting hereditary hemochromatosis.
Clinical Implications
Clinicians should monitor for signs of Mauriac syndrome in pediatric patients with type 1 diabetes and poor glycemic control.
Conclusion
This case highlights the need for thorough diagnostic evaluation when complications arise in patients with type 1 diabetes.
In a randomized crossover trial of insulin-treated patients receiving hemodialysis, real-time continuous glucose monitoring did not improve the primary hypoglycemia outcome but increased time in range and reduced time above range vs capillary testing.
