摘要
目的了解尼曼匹克病的多样化临床表现,增强诊断与鉴别诊断能力,减少误诊或漏诊。方法报告1例7月龄尼曼匹克病患儿的发病及诊断经过,并进行相关文献学习。结果该患儿肝脾肿大明显,肝功能异常,伴贫血,发育落后,骨髓检查发现尼曼-匹克细胞。结论尼曼匹克病为罕见病,临床表现较为多样,临床疑似病例需靠骨髓检查、病理活检、基因检查等确诊。
Objective To study the various clinical manifestations of niemann pick disease,and to improve the ability of diagnosis and differential diagnosis in order to reduce misdiagnosis or missed diagnosis. Methods The onset and diagnostic procedure of a seven- month- old infant with niemann pick disease were reported and relative literature were reviewed and studied. Results The infant demonstrated severe hepatosplenomegaly,abnormity of liver function,anemia and development backwardness. Bone marrow examination indicated storage cells suggestive of niemann pick cells. Conclusion Niemann pick disease is a group of rare diseases with various clinical manifestations.Clinical suspected cases need further bone marrow examination,pathologcal biopsy and gene tests.
出处
《现代医院》
2015年第5期59-60,共2页
Modern Hospitals
关键词
尼曼匹克病
婴儿
病例报告
文献学习
Niemann pick disease
Infant
Case report
Literature study
