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Danon(1981年)及Riggs(1983年)等先后描述了一种以精神发育迟缓、非梗阻性肥厚性心肌病及近端肌病为特征的综合征,肢体肌肉活检示空泡性肌病,游离和膜结合糖原含量增多,但酸性麦芽糖酶活性正常。后来有人报告一家三代数人患此病。作者报导另一家的患病情况,并进一步探讨其临床特征和遗传方式。例1为先证者,男性,剖腹产生,3岁时发现发育迟缓,9岁因癫痫发作用抗惊厥药,脑电图呈慢背景。16岁检查容貌正常,心前区有Ⅰ/Ⅳ级收缩期杂音,神经学检查智力低下,构音障碍,步态笨拙,肢体肌力正常。化验肌酸磷酸激酶、乳酸脱氢酶及谷丙转氨酶明显增高,电解质、尿素氮、朋
Danon (1981) and Riggs (1983) have described a syndrome characterized by mental retardation, non-obstructive hypertrophic cardiomyopathy and proximal myopathy, limb muscle biopsy showed vacuolar myopathy, Free and membrane-bound glycogen content increased, but the acid maltase activity was normal. Later, someone reported a three-generation number of people suffering from the disease. The authors report on the prevalence of another and investigate their clinical features and patterns of inheritance. Example 1 for the proband, male, Caesarean section, 3-year-old found to be stunted, 9-year-old for seizures with anticonvulsants, electroencephalogram showed a slow background. 16-year-old examination showed normal, precordial Ⅰ / Ⅳ systolic murmur, neurological examination of mental retardation, dysarthria, gait clumsy, limb muscle strength. Laboratory creatine phosphokinase, lactate dehydrogenase and alanine aminotransferase was significantly higher, electrolytes, urea nitrogen, friends