The Johns Hopkins University School of Medicine.
The Johns Hopkins University School of Medicine, Department of Pediatrics.
Fam Pract. 2021 Jun 17;38(3):360-364. doi: 10.1093/fampra/cmaa114.
Mauriac syndrome is a rare consequence of poorly controlled insulin-dependent diabetes, characterized by hepatomegaly, growth failure, delayed onset of puberty, and cushingoid features. Case reports of patients with Mauriac syndrome are found infrequently in the literature given historic improvements in diabetes management due to readily available insulin therapy.
We describe a case of a 14-year-old girl who presented with acute onset abdominal pain, distention, and orthopnea.
She had a history of poorly controlled insulin-dependent diabetes as well as short stature. Abdominal imaging revealed impressive hepatomegaly. Laboratory testing showed markedly elevated triglycerides and cholesterol. Mauriac syndrome was suspected and diagnosed by liver biopsy, which demonstrated significant glycogenic hepatopathy.
This case provides an illustrative example of Mauriac syndrome in a child who did not experience delayed onset of puberty and continued to have regular menses unlike what has been previously described. Furthermore, this case highlights the important consideration for significant dyslipidemia in patients with Mauriac syndrome and discusses the challenges of controlling insulin-dependent diabetes in the adolescent population.
Mauriac 综合征是一种罕见的胰岛素依赖型糖尿病控制不佳的后果，其特征为肝肿大、生长发育迟缓、青春期延迟和库欣样特征。由于胰岛素治疗的广泛应用，糖尿病管理得到了显著改善，因此在文献中罕见报道 Mauriac 综合征患者的病例。
我们描述了一例 14 岁女孩，她因急性腹痛、腹胀和端坐呼吸就诊。
她患有胰岛素依赖型糖尿病且控制不佳，身材矮小。腹部影像学显示显著的肝肿大。实验室检查显示甘油三酯和胆固醇明显升高。怀疑患有 Mauriac 综合征，并通过肝活检诊断，活检显示显著的肝糖原病。
本病例提供了一个儿童 Mauriac 综合征的实例，该患儿没有经历青春期延迟，并且与以往描述的不同，继续有规律的月经。此外，本病例强调了 Mauriac 综合征患者存在显著血脂异常的重要性，并讨论了控制青少年人群中胰岛素依赖型糖尿病的挑战。
