Okane K, Tomura N, Hirano H, Heian-na J, Watarai J
Department of Radiology, Akita University School of Medicine, Japan.
No To Shinkei. 1998 Mar;50(3):273-7.
Magnetic resonance (MR) imaging findings in two cases of Hunter's syndrome [mucopolysaccharidosis (MPS) type II A] are reported. The first case is a 15-year-old boy in whom the diagnosis of Hunter's syndrome was made at 2 years of age on the basis of increased glycosaminoglycans in the urine, developmental delay, characteristic faces, joint contraction, family histories, and radiological characteristics including oar-like deformed ribs and dysplasia of lumbar vertebrae. MR images showed marked enlargement of the lateral ventricles and third ventricle. The cerebral cortical sulci were diffusely dilated. Abnormal intensity lesions in the lateral part of the lentiform nucleus, the subcortex of the insula, the pons, and the right thalamus were seen. Diffuse hyperintensity throughout the periventricular white matter is also seen on T2-weighted images. The second case is a 3-year-old boy, born at immature delivery. At 2 months of age, he was admitted to a pediatric department because of liver dysfunction, inguinal hernias and umbilical hernia. The diagnosis of Hunter's syndrome was made by developmental delay, gargoylism, joint contraction, kyphosis, and biochemical investigation of urine. Urinary glycosaminoglycans significantly increased. Skeletal radiography showed dysplasia of the lumbar vertebrae and acetabulum. T1-weighted MR images demonstrated numerous hypointense spots in the corpus callosum and the cerebral white matter, presumably suggesting large perivascular spaces. Multiple cystic changes appeared to be hyperintense on T2-weighted images. Numerous linear hyperintense lesions were visible in the corona radiata. Patchy areas of hyperintense areas were seen, more prominent in the parietal lobes. Neuropathological examinations in cases of Hunter's syndrome have previously shown marked dilatation of ventricular system, large perivascular spaces secondary to mucopolysaccharide storage, demyelination and gliosis in the white matter and so forth. MR findings correlated well with previously reported neuropathological findings. MR study is not only useful for diagnosing Hunter's syndrome but also helpful to follow the pathological status.
报告了两例亨特综合征（IIA型黏多糖贮积症，MPS）的磁共振（MR）成像结果。第一例是一名15岁男孩，其在2岁时根据尿中糖胺聚糖增加、发育迟缓、特殊面容、关节挛缩、家族史以及包括桨状肋骨畸形和腰椎发育异常等放射学特征被诊断为亨特综合征。MR图像显示侧脑室和第三脑室明显扩大。大脑皮质沟回弥漫性增宽。在豆状核外侧部、岛叶皮质下、脑桥和右侧丘脑可见异常信号病变。在T2加权图像上，整个脑室周围白质也可见弥漫性高信号。第二例是一名3岁男孩，早产。2个月大时，因肝功能障碍、腹股沟疝和脐疝入住儿科。根据发育迟缓、丑面容、关节挛缩、脊柱后凸以及尿液生化检查诊断为亨特综合征。尿糖胺聚糖显著增加。骨骼X线检查显示腰椎和髋臼发育异常。T1加权MR图像显示胼胝体和脑白质中有许多低信号点，推测提示大的血管周围间隙。多个囊性改变在T2加权图像上似乎呈高信号。在放射冠可见许多线性高信号病变。可见片状高信号区，在顶叶更明显。先前对亨特综合征病例的神经病理学检查显示脑室系统明显扩张、黏多糖贮积继发大的血管周围间隙、白质脱髓鞘和胶质增生等。MR表现与先前报道的神经病理学结果密切相关。MR研究不仅有助于诊断亨特综合征，而且有助于跟踪病理状态。
