CAJ | 학술논문

目的：探讨新生儿期枫糖尿症临床特点、影像学头核磁频谱特点，以及基因遗传学特征，以便做到早发现、早诊断和早治疗。方法新生儿期枫糖尿症患儿血和尿的遗传代谢筛查、基因学检测和头磁共振频谱检查。结果2例患儿临床存在喂养困难和神经系统异常表现，并存在代谢紊乱。2例患儿血和尿代谢筛查结果符合枫糖尿病诊断，早期完善头部磁共振及频谱检查，发现头磁共振表现为广泛的脑白质受累，尤其是髓鞘发育成熟部位，频谱上均发现了0.9 ppm 处相对特异性波峰。基因学检查发现病例1BCKDHA 基因的一个杂合突变：2号外显子 c.117dupC 为致病突变；病例2BCKDHA 基因的一个杂合突变：8号外显子 c.1000G 位点为致病突变。结论枫糖尿症临床常表现喂养困难、反应低下等，早期头 MR 及 MRS 的特征性表现有助于更早进行诊断，而基因分析可了解枫糖尿症患儿的基因突变情况，利于产前诊断，为枫糖尿症家庭提供帮助。
목적：탐토신생인기풍당뇨증림상특점、영상학두핵자빈보특점，이급기인유전학특정，이편주도조발현、조진단화조치료。방법신생인기풍당뇨증환인혈화뇨적유전대사사사、기인학검측화두자공진빈보검사。결과2례환인림상존재위양곤난화신경계통이상표현，병존재대사문란。2례환인혈화뇨대사사사결과부합풍당뇨병진단，조기완선두부자공진급빈보검사，발현두자공진표현위엄범적뇌백질수루，우기시수초발육성숙부위，빈보상균발현료0.9 ppm 처상대특이성파봉。기인학검사발현병례1BCKDHA 기인적일개잡합돌변：2호외현자 c.117dupC 위치병돌변；병례2BCKDHA 기인적일개잡합돌변：8호외현자 c.1000G 위점위치병돌변。결론풍당뇨증림상상표현위양곤난、반응저하등，조기두 MR 급 MRS 적특정성표현유조우경조진행진단，이기인분석가료해풍당뇨증환인적기인돌변정황，리우산전진단，위풍당뇨증가정제공방조。
Objective To analyze and summarize clinical manifestation, MRS findings and gene characteristics of maple syrup urine disease(MSUD) of neonates, and proceed early screening, diagnosis and treatment.Method The MSUD neonates received tandem mass spectrum and gas chromatography examination, gene detection and the MRS examination. Result Their main clinical features are poor feeding, and nervous system and associated metabolic disorders. Two cases both received tandem mass spectrum and gas chromatography examination and met the diagnosis of MSUD. The gene testing showed both mutation of the BCKDHA gene. Their magnetic resonance showed a wide range of brain white matter involvement, especially the myelin sheath mature site and magnetic resonance spectroscopy showed an abnormal branched-chain amino acids (BCAA) and branched- chain alpha-keto acids (BCKA) peak at 0.99 ppm. Conclusion Newborns with MSUD often had early appeared non-specific symptoms with poor feeding, decreased responsiveness and convulsions.The specific manifestations of MRS and MR can help us to have an early diagnosis and treatment. The gene analysis of MSUD allowed preliminary understanding of gene mutations in the MSUD families and made prenatal diagnosis which is helpful for consultation in the second pregnancy.