【摘要】 目的探讨5例GM1神经节苷脂沉积病婴儿型患者的临床和影像学特点。方法5例患儿均经外周血白细胞β"半乳糖苷酶活性测定确诊;通过临床调查、一般化验、骨骼X线、脑影像学检查分析5例患儿临床特点。结果5例患儿均无异常家族史,于新生儿期至1岁起病。主要表现为喂养困难、营养不良、进行性智力运动落后、肌张力低下、易惊,2例患儿分别于4个月和13个月出现癫疒间。体格检查5例头围显著增大,中度肝肿大。眼底检查均未发现樱桃红斑。合并肝损害3例。5例患儿尿液甲苯胺蓝试验均呈阳性,3例酸性白蛋白、溴代16烷基三甲胺试验阳性。骨骼X线检查均显示骨质疏松,指骨呈子弹头样改变,脊柱后突畸形,下胸椎及上腰椎椎体前下缘呈鸟嘴样突出。磁共振成像均显示脑白质发育不良,1例患儿丘脑呈对称性T1W高信号,T2W低信号。外周血白细胞β"半乳糖苷酶活性为1.4～3.9nmol/(h·mg蛋白)。死亡1例,其余病情进行性加重。结论GM1神经节苷脂沉积病以智力运动落后为主,伴肝损害及骨骼异常。骨骼X片特征性改变有助于诊断,脑磁共振成像影像学有助于判断病情进展。更多还原

【Abstract】 Objectives To investigate the clinical and imaging features in infants with GM1 gangliosidosis. Me-thods Five infants with GM1 gangliosidosis (infantile form) were diagnosed according to the acid- galactosidase analysis of peripheral blood leukocytes. Their clinical features,general laboratory tests,enzymetic and imaging features were studiedResults None of the 5 infants had family history of GM1. All the patients developed progressive hypotonia and psychomotor disorders beginning from neonate to 1 year old and were diagnosed at the age of 9 to 27 months. The major manifestations included feeding difficulty,malnutrition,progressive mental retardation,development delay, hypotonia, and irritability. Two of the infants had seizures at 4 and 12 months respectively. Macrocephaly and medium hepatomegaly were found onphysical examination. Macular cherry- red spots were not present in their eyegrounds. Three cases were found with liver dysfunction. Urine Toluidine blue test was positive in all the patients. Mild hyperammonemia and lactic acidemia were found. Skeletal radiographs revealed wide hypoplastic wedge- shaped metacarpals,lumbar kyphosis and anteriorly beaked thoracolumbar vertebrae. Hypomyelination observed on cranial MR imaging in all patients. In a boy,the lesions carried hyperintensity of the thalamus on T1- weighted image and hypointensity of the thalami on T2- weighted images. The acid- galactosidase activity in his lymphocytes was significantly decreased to 1.4 ～ 3.9 nmol/(h·mg protein,normal range 88 ～ 204 nmol/(h·mg protein)). One patient showed progressive degeneration and died of pneumonia at the age of 17 months. Conclusions Clinical characteristics of GM1 gangliosidosis include mental retardation, development delay,with some patients having liver dysfunction and skeletal abnormality. Specific changes of skeletal radiographs play an important role in the diagnosis of the disease and cranial MR imaging could be used to evaluate the exacerbation of the disease.更多还原