Ataman M, Sözeri B, Ozalp I
Departments of Otolaryngology, Hacettepe University School of Medicine, Ankara, Turkey.
Int J Pediatr Otorhinolaryngol. 1992 May;23(3):281-4. doi: 10.1016/0165-5876(92)90111-2.
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.
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。
