DWI成像对新生儿枫糖尿病的诊断价值

The diagnostic significance of DWI imaging in neonatal MSUD

目的回顾性分析经临床诊断为枫糖尿病患儿的头MR表现,总结并分析DWI成像在新生儿枫糖尿病(maple syrup urine disease,MSUD)的特征性表现,为影像检查在今后诊断MSUD提供一定的帮助打下基础。方法回顾性搜集本院5年内经质谱分析及临床诊断的枫糖尿病患儿,以其中申请头MR检查者15例为研究对象,分析磁共振成像中DWI序列在枫糖尿病的特征性表现(由2名放射科医生分别进行),为今后临床诊断MSUD提供一定价值。结果经临床诊断的新生儿枫糖尿病患者,在MR检查中DWI图像上观察到主要累及部位有延髓、脑桥、脑干、小脑脚、额、颞、顶部脑白质、基底节及半卵圆区,这些受累部位主要呈对称的长T1、长T2信号,其中以DWI明显高信号为其特征性表现。结论新生儿MSUD在DWI具有一定的特征性表现,及时了解及掌握这些MR图像特征有助于今后对MSUD的诊断,可为临床提供一定的帮助。

Objective The study aims to retrospectively analyze the neonatal MR imaging features with clinical diagnosis of maple syrup urine disease （MSUD） , and to analyze the DWI imaging characteristic manifestations to provide useful information for MSUD diagnosis. Methods Retrospectively, 15 neonates in our hospital were collected within 5 years diagnosed by mass spec- trometry and clinical diagnosis with MSUD as objects of this study, who underwent the MRI examination. The DWI sequence char- aeteristic in MRI of MSUD was analyzed by two different radiologists separately. Results The neonates with diagnosis of MSUD by mass spectrum and clinical involved the medulla oblongata, pons, brain stem, cerebellar peduncle, frontal, temporal, white matter of parietal lobe, basal ganglia and half oval center, these affected areas were symmetrical long T1, long T2 signal, among which with DWI obviously high signal can be for its characteristic. Conclusion Neonatal MSUD in DWI imaging has certain characteristic, timely understanding and grasp of these MR image features can help in the future for the diagnosis of MSUD, and provide some information for clinical.