论文部分内容阅读
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。
Objective To investigate the clinical and imaging features of 5 cases of infantile type GM1 gangliosidosis. Methods Five cases of children were diagnosed by β “galactosidase activity of peripheral leukocytes. The clinical features of 5 cases were analyzed by clinical examination, general examination, bone X-ray and brain imaging.Results All 5 cases No abnormal family history, onset in the neonatal period to the age of 1. Mainly for feeding difficulties, malnutrition, progressive mental retardation, low muscle tone, easy to panic, two children at 4 months and 13 months 5 cases of epilepsy physical examination head circumference was significantly increased, moderate hepatomegaly. Fundus examination showed no cherry erythema with liver damage in 3 cases .5 cases of children with urine toluidine blue test were positive, 3 cases Acid albumin, bromine 16 alkyl trimethylamine test positive.Analysis of bone X-ray showed osteoporosis, phalanx was bullet-like changes, kyphosis, lower thoracic vertebral and lower anterior lumbar vertebral was beak-like Prominent magnetic resonance imaging showed white matter dysplasia, 1 case of thalamus symmetrical T1W high signal, T2W low signal. Peripheral leukocyte β ”galactosidase activity of 1.4 ~ 3.9nmol / (h · mg protein ). 1 died, the rest of the disease progressive increase. Conclusion GM1 ganglioside deposition disease is mainly caused by mental retardation, with liver damage and skeletal abnormalities. Skeletal X-ray features can help to diagnose changes, imaging of brain magnetic resonance imaging can help determine the progress of the disease.