Suppr超能文献

一名婴儿因严重因子X缺乏症表现为热性惊厥。

Severe Factor X Deficiency Presenting as Febrile Seizure in an Infant.

作者信息

Garg Meenal, Ramzan Mohammed, Kumawat Anand, Mittal Jaikrishan, Katewa Satyendra, Gupta Piyush

机构信息

Department of Pediatric Neurology, Neoclinic Children Hospital.

Department of Pediatric Hemato-oncology, Manipal Hospital.

出版信息

J Pediatr Hematol Oncol. 2020 Aug;42(6):e511-e512. doi: 10.1097/MPH.0000000000001453.

Abstract

Factor X deficiency is a severe inherited coagulation disorder, which is characterized by severe systemic bleeding manifestations in affected individuals. It is a rare disorder with a frequency of around 1:1,000,000 in the general population. We present the case of an infant with factor X deficiency who presented with complex febrile seizure. Although febrile seizures are very common in children, a closer scrutiny leads to neuroimaging and finding of intracranial bleed. Hematologic and genetic investigations confirmed the diagnosis. A high index of suspicion should be maintained to diagnose uncommon bleeding disorders in children.

摘要

因子X缺乏症是一种严重的遗传性凝血障碍,其特征是受影响个体出现严重的全身性出血表现。这是一种罕见的疾病,在普通人群中的发病率约为1:1,000,000。我们报告一例患有因子X缺乏症并伴有复杂性热性惊厥的婴儿病例。虽然热性惊厥在儿童中非常常见,但经过更仔细的检查发现了神经影像学异常及颅内出血。血液学和遗传学检查确诊了该疾病。对于诊断儿童罕见出血性疾病应保持高度的怀疑指数。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验