Willemsen M A, Jira P E, Gabreëls F J, van der Ploeg A T, Smeitink J A
Academisch Ziekenhuis, Nijmegen.
Ned Tijdschr Geneeskd. 1998 Jun 13;142(24):1388-92.
Three neonatal patients, one girl and two boys, presented with infantile Pompe's disease. A generalized hypotonia with decreased tendon reflexes and heart failure due to hypertrophic cardiomyopathy dominated the clinical picture in all three; these symptoms are uniformly and characteristically present. This autosomal recessive glycogen storage disease is caused by a deficiency of lysosomal alpha-glucosidase. The diagnosis, suspected on the basis of the characteristic clinical picture and the results of simple laboratory tests, is made by measurement of the enzymatic activity or DNA analysis. Most patients die in their first year of life, no treatment being available.
三名新生儿患者，一名女孩和两名男孩，患有婴儿型庞贝病。所有三名患者的临床表现均以全身性肌张力减退、腱反射减弱以及肥厚型心肌病导致的心力衰竭为主；这些症状均一致且典型地出现。这种常染色体隐性糖原贮积病是由溶酶体α-葡萄糖苷酶缺乏引起的。根据特征性临床表现和简单实验室检查结果怀疑诊断后，通过酶活性测定或DNA分析进行确诊。大多数患者在一岁内死亡，目前尚无有效治疗方法。
