Cheng Ailan, Han Lianshu, Feng Yun, Li Huimin, Yao Rong, Wang Dengbin, Jin Biao
Department of Radiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Diagn Interv Radiol. 2017 Sep-Oct;23(5):398-402. doi: 10.5152/dir.2017.16466.
We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).
This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed.
Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. On diffusion-weighted imaging, nine cases presented restricted diffusion in myelinated areas, and one intermittent case with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases; the cerebellum, mesencephalon, pons, and supratentorial area in five cases; and the thalamus in four cases, respectively. The intermittent form involved the cerebellum, pons, and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area.
Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI.
我们旨在评估枫糖尿症（MSUD）的磁共振成像（MRI）及临床特征。
这项回顾性研究纳入了10例经基因检测确诊的MSUD患者。所有患者均接受了脑部MRI检查。对患者的表型、基因型以及MRI上的脑损伤区域进行回顾性分析。
6例患者（60%）为具有BCKDHB突变的经典型MSUD，3例患者（30%）为间歇性型（2例为BCKDHA突变，1例为DBT突变），1例患者（10%）为具有DBT突变的硫胺素反应型。在扩散加权成像上，9例在髓鞘化区域呈现扩散受限，1例具有DBT突变的间歇性型患者表现正常。经典型MSUD中，6例累及基底节；5例累及小脑、中脑、脑桥及幕上区域；4例累及丘脑。间歇性型有2例累及小脑、脑桥及幕上区域。硫胺素反应型累及基底节和幕上区域。
我们的初步结果表明，MSUD患者多为具有BCKDHB突变的经典型，且MRI显示脑损伤广泛。
