枫糖尿病患者服用复方地芬诺酯后功能失代偿1例并文献复习  

Functional decompensation after administration of compound diphenoxylate in a maple syrup urine disease patient:case report and literature review

作　　者：张淇 卢倩 石秀玉[2] 邹丽萍[2] Zhang Qi;Lu Qian;Shi Xiuyu;Zou Liping(Medical School of Chinese PLA,Beijing 100853,China;Department of Pediatrics,the First Medical Center of PLA General Hospital,Beijing 100853,China)

机构地区：[1]解放军医学院,北京100853 [2]解放军总医院第一医学中心儿内科,北京100853

出　　处：《中华全科医师杂志》2023年第1期78-82,共5页Chinese Journal of General Practitioners

摘　　要：报道1例因两次口服复方地芬诺酯后出现步态不稳导致运动不能、行走困难,最终诊断为枫糖尿病的患儿并复习相关文献。患儿女,现14岁,18月龄时口服复方地芬诺酯后出现嗜睡、不能行走,遂一直口服以维生素B1为主的B类维生素治疗,之后13年患儿可正常生活学习。14岁4月龄时因腹泻误服复方地芬诺酯再次出现步态不稳就诊。检查支链氨基酸水平增高,基因检测显示BCKDHA基因c.745G>A(p.G249S)、c.485-1G>C复合杂合变异,确定诊断为枫糖尿病。文献复习共检索到国内外文献报道以步态不稳起病的枫糖尿病患儿共11例,但尚无因口服复方地芬诺酯后枫糖尿病患者迅速出现步态不稳的报道。A 14-year girl was admitted with akinesia and difficulty walking due to gait instability after two oral doses of compound diphenoxylate(lomotil).When she was 18-month old,drowsiness and inability to walk were observed after taking lomotil,the symptoms were relieved by taking B vitamins for treatment.The laboratory tests showed the increased blood branched chain amino acid levels;gene detection indicated that the child had compound heterozygous variations of c.745G>A(p.G249S)and c.485-1G>C in the BCKDHA gene.The girl was finally diagnosed as maple syrup urine disease.The domestic and foreign literature was searched,and 11 child cases of maple syrup urine disease with onset of unsteadiness and ataxia were reported,none of whom was associated with oral administration of compound diphenoxylate.

关 键 词：枫糖尿病 复方地芬诺酯 步态不稳 维生素B 

分 类 号：R587.1[医药卫生—内分泌]