摘要
目的对３８例脑白质营养不良患儿进行分析，探讨其诊断问题。方法采用临床检查与生化检查综合分析，同时探讨影像学和实验室检查与临床的关系。结果６例诊断为异染性脑白质营养不良（ｍｅｔａｃｈｒｏｍａｔｉｃｌｅｕｋｏｄｙｓｔｒｏｐｈｙ，ＭＬＤ），１３例诊断为肾上腺脑白质营养不良（ａｄｒｅｎｏｌｅｕｋｏｄｙｓｔｒｏｐｈｙ，ＡＬＤ），２例为先天性皮质外轴索再生障碍症（Ｐｅｌｉｚａｅｕｓ－Ｍｅｒｚｂａｃｈｅｒｄｉｓｅａｓｅ，ＰＭＤ），余１７例病因未明确。文中对几种脑白质营养不良的早期诊断作出分析，同时分析了影像学诊断和实验室检查与临床间的关系，讨论了脑白质营养不良近年的研究进展。结论加强随访工作和遗传咨询，同时进一步做临床基因诊断。
Thirty eight cases with childhood leukodystrophy were analysed.Among the 38 cases, 21 cases got final etiology diagnosis as following: 13 cases with adreno leukodystrophy(ALD); 6 cases with metachromatic leukodystrophy(MLD); 2 cases with Pelizaeus-Merzbacher disease(PMD).The problems of early diagnosis especially in the aspects of clinical manifestations, the application of special laboratory assays, and medical imagination in the diagnosis of childhood leukodystrophy were discussed.Some recent advances were introduced.Strengthening the follow-up and genetic counselling was also discussed.
出处
《中国实用儿科杂志》
CSCD
北大核心
1999年第1期33-36,共4页
Chinese Journal of Practical Pediatrics
