Case Report: Case analysis of a juvenile type 1 diabetes mellitus patient with Mauriac syndrome.

Medical history summary: A 14-year-old female with type 1 diabetes for over six years presented with abdominal pain for two days and vomiting for three hours. Her regimen includes NovoRapid before meals and glargine at bedtime, but she has irregular meal patterns, inconsistent blood glucose monitoring, and poor insulin adherence. She has a history of recurrent diabetic ketoacidosis (DKA) and related hospitalizations. Clinical presentation: The patient is alert but mildly weak, with adequate responsiveness. Breathing is slightly increased, deep, and regular. Extremities are cool. Radial pulses are strong, but dorsalis pedis pulses are diminished bilaterally. There is scattered right abdominal tenderness. The liver is palpable 5 cm below the costal margin, with medium texture and blunt borders, and percussion tenderness is positive. Diagnostic methods: Venous blood glucose was 21.86 mmol/L, and HbA1c was 10%. Arterial blood gas showed pH 6.933, pCO2 31.4 mmHg, and BEb -25.3 mmol/L. Insulin was below 1.39 pmol/L, and C-peptide below 0.003 pmol/L. Urinalysis revealed glucose 4+ and ketones 1+, leading to a diagnosis of type 1 DKA. Liver function was abnormal, with hepatomegaly and blood lactate at 9.85 mmol/L. Metabolic, infectious, and immune causes were excluded. Liver biopsy confirmed glycogenic hepatopathy, establishing a diagnosis of Mauriac syndrome with lactic acidosis. Serum uric acid ranged from 434 to 545 mmol/L, indicating hyperuricemia. Whole-exome sequencing identified a homozygous HFE mutation, suggesting hereditary hemochromatosis, though ferritin was normal and no iron deposition was seen on pathology. Treatment: Continuous intravenous insulin therapy was initiated, along with diabetes education, dietary guidance, exercise, glucose monitoring, and symptomatic care. An insulin pump was subsequently used for continuous subcutaneous insulin infusion (with Gansulin R before meals). Later, the pump was discontinued and switched to a four-injection subcutaneous regimen, consisting of NovoRapid before meals and insulin glargine at bedtime. Bicyclol Tablets was given for hepatoprotection. Clinical outcome: The patient was hospitalized for 13 days, remained afebrile, and reported no discomfort. Blood glucose ranged from 3.1 to 15.2 mmol/L. Liver size slightly decreased, but tenderness persisted. Liver function and lipids were mostly normal at discharge. Two months later, she was readmitted for DKA; liver function was normal, but hepatomegaly with tenderness persisted.