Jemai Chaima, Fakhfakh Yasmine, Hadj Ali Zohra, Htira Yosra, Ben Mami Faika
Department C, National Institute of Nutrition of Tunis, Tunis, TUN.
Cureus. 2024 Nov 29;16(11):e74766. doi: 10.7759/cureus.74766. eCollection 2024 Nov.
Type 1 diabetes mellitus (T1DM) is a common autoimmune pathology requiring lifelong insulin therapy. We report the case of a 12-year-old girl with T1DM admitted to Department C of the National Institute of Nutrition of Tunis for diabetic ketosis. She had suffered from T1DM for five years, with poor glycemic control (hemoglobin A1C = 10%) and poor therapeutic adherence. On examination, she had abdominal bloating with homogeneous hepatomegaly. Her height was 146 cm (less than the second percentile), her weight was 38 kg (less than the second percentile), and her body mass index was 17.8 kg/m². Tanner's stage was S1P1A1. Biological investigations showed mixed dyslipidemia, normal liver and renal functions, and normal thyroid-stimulating hormone levels. The aspartate aminotransferase/alanine aminotransferase ratio was 1.35. Ultrasound of the abdomen revealed hepatomegaly with a liver span of 19 cm. Based on the clinical history and investigations, Mauriac syndrome was the most likely diagnosis of our patient. A holistic multidisciplinary approach, in collaboration with the child psychiatrist, was opted to optimize diabetes management and reduce hepatic metabolic overload. Further investigations were conducted to rule out differential diagnoses, especially viral and autoimmune hepatitis. Poor acceptance of type 1 diabetes leads to non-compliance with insulin therapy. Then, energy metabolism becomes defective with growth retardation and pubertal delay. Glucose accumulates in the liver leading to metabolic liver disease. Liver damage could be irreversible. Therapeutic education, a good doctor-patient relationship, and family support are the cornerstones of managing T1DM diabetes complicated by Mauriac syndrome.
1型糖尿病(T1DM)是一种常见的自身免疫性疾病,需要终身胰岛素治疗。我们报告了一名12岁患T1DM的女孩因糖尿病酮症入住突尼斯国家营养研究所C科的病例。她患T1DM已有五年,血糖控制不佳(糖化血红蛋白A1C = 10%)且治疗依从性差。检查时,她有腹胀伴均匀性肝肿大。她的身高为146厘米(低于第二百分位数),体重为38千克(低于第二百分位数),体重指数为17.8千克/平方米。坦纳分期为S1P1A1。实验室检查显示混合性血脂异常,肝肾功能正常,促甲状腺激素水平正常。天冬氨酸转氨酶/丙氨酸转氨酶比值为1.35。腹部超声显示肝肿大,肝左右径为19厘米。根据临床病史和检查,毛里阿克综合征是我们患者最可能的诊断。我们选择了一种整体多学科方法,与儿童精神科医生合作,以优化糖尿病管理并减轻肝脏代谢负担。进行了进一步检查以排除鉴别诊断,尤其是病毒性和自身免疫性肝炎。对1型糖尿病的接受度差导致胰岛素治疗不依从。然后,能量代谢出现缺陷,伴有生长发育迟缓及青春期延迟。葡萄糖在肝脏中蓄积导致代谢性肝病。肝损伤可能是不可逆的。治疗教育、良好的医患关系和家庭支持是管理并发毛里阿克综合征的T1DM的基石。