Abstract：
We report a case of a boy in his middle childhood who presented with inspiratory stridor and lactic acidosis and was subsequently diagnosed with partial biotinidase deficiency. Fibreoptic laryngoscope showed paradoxical vocal fold mobility.Partial biotidinase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. It may result in clinical consequences and can be easily treated with biotin but need a high index of suspicion to diagnose. The main symptoms include ataxia, seizures, hypotonia, psychomotor retardation, alopecia, skin rash, progressive deafness, optic atrophy and life-threatening episodes of metabolic acidosis. Laryngeal stridor is an uncommon presentation, but it is reversible in case of biotinidase deficiency. Invasive procedure like tracheostomy has not been shown to enhance outcomes.
摘要：
我们报告了一个男孩在他的童年中期出现吸气性喘鸣和乳酸性酸中毒的病例，随后被诊断为部分生物素酶缺乏症。纤维喉镜显示出矛盾的声带活动性。部分生物素酶缺乏症是一种遗传性疾病，其中身体无法回收维生素生物素。它可能导致临床后果，可以很容易地用生物素治疗，但需要高度怀疑才能诊断。主要症状包括共济失调，癫痫发作,低张力,精神运动性迟钝,脱发,皮疹,进行性耳聋,视神经萎缩和危及生命的代谢性酸中毒。喉喘鸣是一种罕见的表现，但在生物素酶缺乏的情况下是可逆的。诸如气管造口术的侵入性程序尚未显示出可增强结果。
