Mauriac syndrome or glycogen hepatopathy (GH) is an uncommon complication of poorly controlled type 1 diabetes mellitus commonly occurring in adolescents. It has become even less common after the emergence of advances on diabetes treatment, but still exists. It manifests as growth failure, hepatomegaly, elevated liver enzymes, and accumulation of glycogen in hepatocytes related to poorly controlled diabetes and a glucose trap in the liver. GH has got good prognosis and fast resolution after adequate glycemic control, with no progression to end-stage liver disease.

We report a 10-year-old boy with poorly controlled type I diabetes mellitus (on pre-mix insulin), hepatomegaly, and extremely high levels of liver transaminases. He underwent a liver biopsy elsewhere which showed glycogen deposits. He was referred to our institution for confirmation of diagnosis of glycogen storage disorder. Clinical examination revealed short stature, moon facies, and protuberant abdomen with hepatomegaly of 8 cm below the right costal margin. After exclusion of other causes of hepatitis, we controlled his sugars using basal bolus insulin regimen. Clinical exome sequencing revealed no abnormal mutations in the enzymes linked to glycogen metabolism. In an about 8 weeks, his transaminases normalized and hepatomegaly regressed.

Mauriac综合征或糖原性肝病（GH）是控制不佳的1型糖尿病，通常在青少年中发生的罕见并发症。在糖尿病治疗的进展出现后，它变得越来越少见，但仍然存在。它表现为生长不良，肝肿大，肝酶升高以及肝细胞中糖原的积累，这与控制不佳的糖尿病和肝脏中的葡萄糖捕获有关。适当的血糖控制后，GH的预后良好，而且很快可以消退，并且不会发展为晚期肝病。

我们报告了一个10岁的男孩，他的I型糖尿病控制不佳（使用预混合胰岛素），肝肿大和肝转氨酶水平极高。他在其他地方进行了肝活检，发现肝糖原沉积。他被转介到我们机构以确诊糖原贮积症。临床检查显示身材矮小，月相和腹部隆起，肝肿大在右肋缘以下8 cm。在排除其他原因引起的肝炎后，我们使用基础推注胰岛素治疗方案控制了他的糖分。临床外显子组测序显示与糖原代谢有关的酶没有异常突变。在大约8周的时间内，他的转氨酶恢复正常，肝肿大消退。