呈现与腰椎间盘椎间盘的阿尔卡普顿:一个病例报告
M L Bansal1, Fazal Rehman T1, Amlan Singh1
1Department of Spine Services, Indian Spinal Injuries Centre, New Delhi, IND.
Cureus
|October 3, 2023
概括
阿尔卡普托努里亚是一种罕见的遗传性疾病,可以引起症状的腰椎椎间盘. 这个案例突出了通过在背部疼痛手术期间识别"黑色磁盘"来诊断阿尔卡普顿.
科学领域:
- 遗传学 遗传学 是一个
- 整形外科 整形外科 整形外科
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- (Alkaptonuria,简称AKU) 是一种罕见的自体递归代谢障碍,其特征是病和退行性关节疾病的风险增加.
- 需要手术的症状性腰椎间盘是AKU的一种不常见的表现.
研究的目的:
- 报告一种罕见的症状性腰椎椎间盘的病例,该病例发生在患有未诊断的阿尔卡普顿尿症的患者身上.
- 强调诊断线索和这种罕见表现的管理.
主要方法:
- 一个31岁的女性的病例介绍,她患有腰部疼痛和根茎病变.
- 诊断工作包括腰椎放射,核磁共振,磁盘材料的手术评估,尿液均酸检测和组织病理学.
主要成果:
- 放射学显示盘化;MRI显示在L4-L5处的椎间板,T2低强度信号暗示了化.
- 黑盘物质的内科观察导致AKU的怀疑,由尿液同质酸和组织病理学水平的升高证实.
- 患者经历了很好的术后症状缓解.
结论:
- 在手术过程中观察到的"黑色圆盘"应该促使对alkaptonuria进行后续调查.
- 保持AKU的高怀疑指数对于与盘结合的退行性磁盘疾病的差异诊断至关重要.
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