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伴有颅内出血的凝血因子 XIII 缺乏症。

Factor XIII deficiency with intracranial haemorrhage.

作者信息

Ejaz Muzamil, Saleem Ayesha, Ali Nimrah, Tariq Fizza

机构信息

Pediatrics, Dow Medical College, Dow University of Health Sciences, Dr Ruth KM Pfau Civil Hospital, Karachi, Pakistan.

出版信息

BMJ Case Rep. 2019 Aug 26;12(8):e228682. doi: 10.1136/bcr-2018-228682.

Abstract

A 5-year-old girl presented to paediatric emergency with fever and seizures for a short duration. At first, meningitis was suspected and management was started empirically. There was no improvement in the clinical condition of the patient and investigations revealed spontaneous intracranial haemorrhage (ICH) secondary to factor XIII deficiency. The child was transfused cryoprecipitate and managed conservatively for ICH. She became asymptomatic and was kept on monthly cryoprecipitate transfusions. This case report summarises factor XIII deficiency in ICH which was not suspected initially, but diagnosed later on after CT scan head and factor XIII assay. This report also highlights events occurring during its management.

摘要

一名5岁女孩因发热和短期惊厥就诊于儿科急诊。起初,怀疑为脑膜炎并开始经验性治疗。患者的临床状况没有改善,检查发现继发于因子XIII缺乏的自发性颅内出血(ICH)。该患儿输注了冷沉淀,并对ICH进行了保守治疗。她症状消失,并每月接受冷沉淀输血。本病例报告总结了最初未被怀疑,但在头颅CT扫描和因子XIII检测后才确诊的ICH中的因子XIII缺乏情况。本报告还强调了治疗过程中发生的事件。

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Factor XIII deficiency with intracranial haemorrhage.伴有颅内出血的凝血因子 XIII 缺乏症。
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Unusual presentation of factor XIII deficiency.因子 XIII 缺乏症的不典型表现。
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本文引用的文献

1
Management of rare coagulation disorders in 2018.2018年罕见凝血障碍的管理
Transfus Apher Sci. 2018 Dec;57(6):705-712. doi: 10.1016/j.transci.2018.10.009. Epub 2018 Oct 30.
3
Factor XIII deficiency diagnosis: Challenges and tools.因子 XIII 缺乏症的诊断:挑战与工具。
Int J Lab Hematol. 2018 Feb;40(1):3-11. doi: 10.1111/ijlh.12756. Epub 2017 Oct 13.
4
Intracranial hemorrhage in congenital bleeding disorders.先天性出血性疾病中的颅内出血
Blood Coagul Fibrinolysis. 2018 Jan;29(1):1-11. doi: 10.1097/MBC.0000000000000660.
8
Diagnosis of factor XIII deficiency.因子 XIII 缺乏症的诊断。
Hematology. 2016 Aug;21(7):430-9. doi: 10.1080/10245332.2015.1101975. Epub 2016 Mar 30.

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