• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of Clinical and Diagnostic Research >A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
【24h】

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis

机译：低血脂性瘫痪的Bardet Biedl综合征一例报告

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis. A 22 years old male patient presented with an acute onset, rapidly progressive, flaccid weakness in all four limbs. An examination revealed a moon shaped face, acanthosis nigricans, lower limb polydactyly, central obesity, small testicular size, absence of the axillary and pubic hairs, severely impaired social adaptive functioning and retinitis pigmentosa. The central nervous system examination showed hypotonia, a grade zero power and absent reflexes. The laboratory reports showed that the patient had hypokalaemia and diabetes mellitus. The literature showed hypokalaemic paralysis as a rare complication of the Bardet-Biedl syndrome.
机译：Bardet-Biedl综合征（BBS）是一种罕见的常染色体隐性遗传疾病，由Bardet和Biedl于1920年首次描述。在这里，我们报道一例低钾血症性麻痹的Bardet-Biedl综合征。一名22岁的男性患者在所有四个肢体中均出现急性发作，快速进行性，松弛性无力。检查发现月亮形的脸，黑棘皮症，多肢下肢多发，中央肥胖，睾丸小，无腋毛和耻骨毛，严重损害了社会适应功能和色素性视网膜炎。中枢神经系统检查显示肌张力低下，零度数力量和缺乏反射。实验室报告显示该患者患有低钾血症和糖尿病。文献显示低钾血症性麻痹是Bardet-Biedl综合征的罕见并发症。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号