Abu Nor Azizah, Lim Chooi Bee, Nor Noor Shafina Mohd
Department of Pediatric, Faculty of Medicine, Universiti Teknologi MARA (UiTM), Selangor, Malaysia.
Department of Pediatric, Selayang Hospital, Ministry of Health, Lebuhraya Kepong Selayang, Selangor, Malaysia.
Clin Pediatr Endocrinol. 2021;30(2):93-97. doi: 10.1297/cpe.30.93. Epub 2021 Apr 3.
Mauriac syndrome is a rare and underdiagnosed complication of type 1 diabetes mellitus (T1DM). It is characterized by growth retardation, delayed puberty, Cushingoid features, hepatomegaly, and increased transaminase levels. The term glycogenic hepatopathy has been used to describe patients with poorly controlled T1DM and glycogen overload in the hepatocytes but without all the features of Mauriac syndrome. Although rare, glycogenic hepatopathy is reported to be the main cause of hepatomegaly in young patients with T1DM. We report two cases of glycogenic hepatopathy in children with poorly controlled T1DM. Both children had hepatomegaly, elevated liver enzyme levels, and elevated lactate levels. A liver biopsy confirmed the diagnosis of glycogenic hepatopathy in both patients. In conclusion, hepatomegaly with elevated liver enzymes, negative infective and metabolic screenings and persistently elevated plasma lactate levels should raise the suspicion of glycogenic hepatopathy in poorly controlled T1DM. Early diagnosis and improvement in glycemic control are the mainstays of treatment, which can prevent long-term complications.
莫里亚克综合征是1型糖尿病（T1DM）一种罕见且易被漏诊的并发症。其特征为生长发育迟缓、青春期延迟、库欣样体征、肝肿大及转氨酶水平升高。术语“糖原性肝病”用于描述T1DM控制不佳且肝细胞糖原过载但无莫里亚克综合征所有特征的患者。尽管罕见，但糖原性肝病据报道是T1DM年轻患者肝肿大的主要原因。我们报告两例T1DM控制不佳儿童的糖原性肝病病例。两名儿童均有肝肿大、肝酶水平升高及乳酸水平升高。肝活检证实两名患者均诊断为糖原性肝病。总之，肝肿大伴肝酶升高、感染性和代谢筛查阴性以及血浆乳酸水平持续升高应引起对T1DM控制不佳患者糖原性肝病的怀疑。早期诊断和改善血糖控制是治疗的主要手段，可预防长期并发症。
