Brahmbhatt Krutik J, Doshi Meet J, Dave Milauni, Contractor Het, Shah Kush
Medicine, Government Medical College, Baroda, Vadodara, IND.
Cureus. 2024 Jul 21;16(7):e65057. doi: 10.7759/cureus.65057. eCollection 2024 Jul.
Hepatic glycogenosis (HG) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM), in which glycogen accumulates in the hepatocytes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac's syndrome is a rare disease that includes short stature, growth maturation delay, dyslipidemia, moon facies, protuberant abdomen, and hepatomegaly with transaminase elevation. It is clinically classified into two varieties based on the presence or absence of obesity and cushingoid appearance. Clinical, laboratory, and histological abnormalities are reversible with appropriate glycemic control. Our case is a 17-year-old male who had been a known case of T1DM for 15 years and presented with complaints of blurring of vision, facial puffiness, frequent urination, breathlessness, and generalized abdominal pain. Patient examination revealed cushingoid facies, abdominal distension due to hepatomegaly, and stunted growth with an altered lipid profile. He showed a very high sugar reading and was admitted for diabetic ketoacidosis. He was explained the proper diet and insulin administration technique and discharged with proper insulin dosages. On management, he showed normalization of liver enzymes and improved fat distribution with normal liver size. Thus, Mauriac syndrome is a reversible glycogen storage disease that can be completely managed with strict and continuous glycemic control in prepubertal T1DM patients.
肝糖原沉积症(HG)是1型糖尿病(T1DM)控制不佳时的一种罕见并发症,其中糖原在肝细胞中蓄积。它可由胰岛素剂量过大或反复发生的酮症酸中毒发作引起。Mauriac综合征是一种罕见疾病,包括身材矮小、生长发育延迟、血脂异常、满月脸、腹部膨隆以及伴有转氨酶升高的肝肿大。根据是否存在肥胖和库欣样外观,临床上将其分为两个类型。通过适当的血糖控制,临床、实验室及组织学异常是可逆的。我们的病例是一名17岁男性,已知患T1DM 15年,出现视力模糊、面部浮肿、尿频、呼吸困难和全腹痛等症状。患者检查发现有库欣样面容、因肝肿大导致的腹部膨隆以及生长发育迟缓伴血脂异常。他血糖读数非常高,因糖尿病酮症酸中毒入院。向他讲解了适当的饮食和胰岛素注射技术,并给予适当的胰岛素剂量后出院。经治疗,他的肝酶恢复正常,脂肪分布改善,肝脏大小正常。因此,Mauriac综合征是一种可逆的糖原贮积病,在青春期前T1DM患者中通过严格持续的血糖控制可得到完全控制。