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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β-半乳糖苷酶活性为1.4 nmol/(mg.h)蛋白(正常对照为88~204 nmol/(mg.h)蛋白),其父母均为45.6 nmol/(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 ganglioside deposition disease is a rare autosomal recessive genetic disease in this article to be a GM1 ganglioside deposition in children with clinical, enzymatic analysis, imaging data review, combined The literature on the disease research. Subjects and Methods Probate, female, neonatal onset, 9 months after the determination of peripheral blood leukocyte β-galactosidase activity GM1 ganglioside deposition disease. The results of children with first child, neonatal vomiting, poor response. 3 months found that mental retardation, feeding difficulties, easy to panic. Physical examination showed increased head circumference, malnutrition, low muscle tone, and moderate hepatomegaly. Fundus examination no cherry erythema. General tests showed mild anemia, serum ALT, AST, ALP, ammonia increased. Screening of mucopolysaccharides in urine suggests that galactose-rich oligosaccharides and keratolytic sulfate excretion are increased. X-ray examination showed osteoporosis of the phalanx of both hands, showing bullet-like changes, kyphosis, and apical protrusion of the thoracic vertebral body. Magnetic resonance imaging showed white matter dysplasia. The peripheral blood leukocyte β-galactosidase activity was 1.4 nmol / (mg.h) protein (normal control 88 ~ 204 nmol / (mg.h) protein), both parents were 45.6 nmol / (mg.h )protein. Children with progressive aggravating illness, 1-year-old 5-month-old died of pneumonia, respiratory failure. Conclusion This article reports a case of infantile GM1 ganglioside deposition disease, mainly in mental retardation, with liver damage and skeletal abnormalities.