儿童的喉突是由于可逆代谢性疾病引起的
Farah Salman Alnemari1, Hussain Alsheef2, Zohour Awadh Almalki1
1College of Medicine and Surgery, Taif University, Taif, Saudi Arabia.
BMJ case reports
|June 24, 2024
概括
部分生物酶缺乏症,一种影响生物循环的疾病,可以表现为罕见的症状,如启发性. 早期诊断和生物素治疗对于扭转受影响儿童的症状至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 部分生物丁酶缺乏症是一种遗传性代谢障碍.
- 它损害了身体回收生物素的能力,这是一个重要的维生素.
- 如果不治疗,它会导致严重的神经和发育问题.
研究的目的:
- 为了突出部分生物丁酶缺乏的一个不常见的表现.
- 强调在患有不明原因症状的儿童中考虑这种诊断的重要性.
- 为了强调这种情况可以通过生物素补充剂治疗.
主要方法:
- 一个中年男孩的案例报告.
- 临床表现包括启发性和乳酸性化症.
- 通过临床怀疑和可能的生物化学测试 (隐含) 来确认诊断.
- 光纤喉腔镜检查显示了矛盾的声流动性.
主要成果:
- 这名患者被诊断为部分生物丁酶缺乏症.
- 鼓舞性斯特里多和乳酸酸化是主要的症状.
- 在喉腔镜检查中观察到矛盾的声流动性.
- 这项研究表明,喉螺纹是这种缺陷的可逆症状.
结论:
- 部分生物丁酶缺乏症需要高的怀疑指数来诊断.
- 喉螺纹是一种不常见但可逆的表现.
- 及时的生物素治疗可以预防或逆转严重的临床后果.
- 气管切除术不适用于改善这些病例的结果.
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