婴儿型GM 1神经节苷脂沉积病1例报告  

Infantile GM1 gangliosidosis in a Chinese family

作　　者：钱宁[1] 宋金青[1] 张维民[2] 孙芳[1] 施惠萍[2] 张琳[3] 张致祥[1] 杨艳玲[1] 秦炯[1] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]中国医学科学院基础医学研究所遗传室,北京100730 [3]北京大学第一医院医学影像科,100034

出　　处：《中国医刊》2006年第4期39-41,共3页Chinese Journal of Medicine

基　　金：卫生部临床学科重点资助项目(2001-0912)

摘　　要：目的GM1神经节苷脂沉积病是一种罕见的常染色体隐性遗传性疾病，本文拟通过对1例GM1神经节苷脂沉积病患儿临床经过、酶学分析、影像学资料的回顾，结合文献对本症进行研究。对象与方法先证者，女，新生儿期起病。9个月时经外周血白细胞β-半乳糖苷酶活性测定确诊为GM1神经节苷脂沉积病。结果患儿为第1胎，新生儿期常呕吐，反应差。3个月时发现智力运动落后，喂养困难，易惊。体格检查显示头围增大，营养不良貌，肌张力低下，中度肝肿大。眼底检查未见樱桃红斑。一般化验显示轻度贫血，血清ALT、AST、ALP、氨增高。尿液黏多糖过筛试验提示富含半乳糖的低聚糖和硫酸角质排泄增加。X光检查显示双手指骨骨质疏松，呈子弹头样改变，脊柱后突畸形，胸椎椎体前缘尖突样改变。磁共振成像显示脑白质发育不良。患儿外周血白细胞B．半乳糖苷酶活性为1．4nmol／（mg-h）蛋白（正常对照为88-204nmol／（mg·h）蛋白），其父母均为45．6nmol／（mg·h）蛋白。患儿病情进行性加重，1岁5个月时死于肺炎、呼吸衰竭。结论本文报道了1例婴儿型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。Objective GM1 gangliosidosis is a rare autosomal recessive hereditary lysosomal storage disorder. Our study aimed to review the clinical, enzymetic and radiological features of a Chinese patient with infantile GM1 gangliosidosis. Methods The proband was a girl with psychomotor disorder from neonatal period. β-galactosidase activity of peripheral blood leukocytes were measured when she was 9 months old. Results The proband was the first child of the healthy parents. She had vomiting and hypoactive in the neonatal period. From the age of 3 months, she developed mental retardation, feeding difficulty and irritable. Macrocephaly, hypotonia, nystagmus, malnutrition, hepatomegaly, liver dysfunction, mild hyperammonemia and lactic acidemia were found. Macular cherry-red spots were not present on her eyes. A simple urine screening test for mucopolysaccharidoses revealed high excretion galactose-rich oligosaccharides and keratan sulfate. Skeletal radiographs revealed wide hypoplastic wedge-shaped metacarpals and anteriorly beaked thoracolumbar vertebrae. White matter demyelination was observed on cranial MR imaging. The patient＇s blood leukocytes β-galactosidase activity was significantly decreased as 1.4 nmol/（ mg · h） protein [ normal range 88 - 204 nmol/（ mg · h） protein]. In the parents, they were 45.6 nmol/（ mg·h） protein. She showed progressive degeneration and died in pneumonia at the age of 17 months. Conclusions A Chinese patients with psychomotor retardation, liver dysfunction, skeletal abnormality due to infantile GM1 gangliosidosis was reported.

关 键 词：GM1神经节苷脂沉积病 Β-半乳糖苷酶 肝损害 骨骼异常 

分 类 号：R725.8[医药卫生—儿科]