生物素酶缺乏症：喉喘鸣的罕见病因。

Biotinidase deficiency: a rare cause of laryngeal stridor.

作者信息

Ataman M, Sözeri B, Ozalp I

机构信息

Departments of Otolaryngology, Hacettepe University School of Medicine, Ankara, Turkey.

出版信息

Int J Pediatr Otorhinolaryngol. 1992 May;23(3):281-4. doi: 10.1016/0165-5876(92)90111-2.

DOI:10.1016/0165-5876(92)90111-2

PMID:1592565

Abstract

A case of a child with a biotinidase deficiency who had a laryngeal stridor as a leading symptom is presented. This rare disease is distressing for diagnosis but easily treatable, if recognized. This condition, unless suspect clinically, could easily be overlooked and unnecessary tracheotomy could be done.

摘要

本文介绍了一例以喉喘鸣为主要症状的生物素酶缺乏症患儿。这种罕见疾病诊断困难，但如果能被识别，治疗起来很容易。这种情况，如果临床上不怀疑，很容易被忽视，可能会进行不必要的气管切开术。