胆总管囊肿术后并发晚发枫糖尿症一例并文献复习  

Diagnosis and treatment of late-onset maple syrup urine disease after choledochal cyst excision

作　　者：田礼 贺颖 焦春雷 朱天琦 朱丹[1] 魏明发[1] 冯杰雄[1] 余东海 Tian Li;He Ying;Jiao Chunlei;Zhu Tianqi;Zhu Dan;Wei Mingfa;Feng Jiexiong;Yu Donghai(Department of Pediatric Surgery,Affiliated Tongji Hospital,Tongji Medical College,Huazhong University of Science&Technology,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院小儿外科,武汉430030

出　　处：《中华小儿外科杂志》2021年第1期34-38,共5页Chinese Journal of Pediatric Surgery

摘　　要：目的分析1例胆总管囊肿术后并发晚发枫糖尿症(maple syrup urine disease,MSUD)患儿的诊治资料并复习相关文献,以提高对此类疾病的认识。方法收集胆总管囊肿术后并发晚发MSUD患儿的临床资料,总结临床表现、检查方法、诊断和治疗经过。通过PubMed、中国知网、万方等数据库检索近10年相关文献,检索起止时间为2010年1月至2020年5月。结果患儿在行胆总管囊肿切除术后2周内出现顽固性呕吐。术后1个月再次行腹腔镜探查术,第二次术后第一天患儿突然出现嗜睡、神志淡漠、瞳孔对光反射减弱和无法对答。四肢肌力降低,腱反射减弱。头部磁共振成像(magnetic resonance imaging,MRI)检查显示双侧额颞叶皮质、乳头体、双侧壳核、丘脑及中脑、脑桥背侧面多发对称性片状等T1长T2信号,T2-flair为稍高信号,弥散加权成像(diffusion weighted imaging,DWI)示弥散受限。尿有机酸气相色谱-质谱(gas chromatography-mass spectrometry,GC/MS)联用技术检测显示α-酮-3-甲基戊酸显著增高,提示MSUD。经抗感染、补充维生素B1和B12、低支链氨基酸营养、高压氧治疗后,患儿病情逐渐好转。通过检索数据库,近10年国内外文献共报道9例晚发MSUD患儿的病例。结合本研究病例,共10例晚发MSUD。结论早期识别、合理治疗、多学科协作是决定MSUD患儿预后的关键。Objective To explore the diagnosis and treatment of a child with late-onset maple syrup urine disease(MUSD)after choledochal cyst excision.Methods Retrospective analysis was performed for clinical and imaging data of a child with late-onset MUSD after choledochal cyst excision.Clinical manifestations,examinations,diagnosis and treatments were summarized.The databases of PubMed,CNKI and Wanfang were searched for the related literature from January 2010 to May 2020.Results Refractory vomiting occurred at 2 weeks postoperatively and laparoscopic exploration was performed 1 month later.At day 1 post-operation,the child suddenly appeared lethargic and indifferent with attenuated direct and indirect pupil light reflexes.Muscle strength of limbs and tendon reflexes declined.Cranial magnetic resonance imaging(MRI)depicted equal T1 and long T2 signals at bilateral frontal-temporal cortex,papillary body,bilateral putamen,thalamus,midbrain and dorsal pontine,T2-flair had a slightly higher signal.Diffusion weighted imaging(DWI)sequence showed that dispersion was limited.Urinary organic acid GC/MS test showed thatα-keto-3-methylvaleric acid increased significantly,indicating MUSD.After symptomatic treatments of anti-infection,vitamin B1/B12 supplementation,low branched-chain amino acid nutrition and hyperbaric oxygen,patient status gradually improved.Including this case,a total of 10 cases of late-onset MUSD has been reported over the last decade.Conclusions Early identification,proper treatment and multidisciplinary cooperation are vital for determining a favorable prognosis of children with MSUD.

关 键 词：胆总管囊肿 枫糖尿症 诊断 治疗 

分 类 号：R726.5[医药卫生—儿科]