晚期发病的X链接上腺核缩症:一种罕见的渐进性缩性形症的罕见原因
Sofia Sequeira1, André Costa2, Mariana Vargas2
1Internal Medicine, Hospital de Santo Espírito da Ilha Terceira, Angra do Heroísmo, PRT.
Cureus
|January 19, 2026
概括
与X相关的 adrenoleukodystrophy (X-ALD) 可以在女性中呈现,这些女性患有渐进的性表现模仿其他疾病的表现. 早期的生化和遗传检测对于诊断这种罕见的过氧体疾病至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 过氧体性疾病 过氧体性疾病
背景情况:
- 与X相关的上腺核衰竭 (X-ALD) 是一种罕见的过氧体疾病.
- 它可以在成年女性中呈现异常,运动症状进展缓慢.
- 症状往往模仿遗传性性,导致诊断延迟.
研究的目的:
- 突出成人女性X-ALD的诊断挑战.
- 强调在无法解释的性表现症的情况下考虑X-ALD的重要性.
- 强调生物化学和遗传检测对于准确诊断的价值.
主要方法:
- 一个64岁的妇女的病例报告,她的步行有逐渐减弱.
- 临床检查显示了性帕帕雷西斯和上部运动神经元特征.
- 神经成像,广泛的实验室测试,生物化学评估 (非常长链脂肪酸) 和遗传测试 (ABCD1变种).
主要成果:
- 患者出现了性帕帕雷西斯和白质异常.
- 排除了感染性,自身免疫性和代谢性原因.
- 超长链脂肪酸的增加和一种致病性ABCD1变体证实了X-ALD.
结论:
- 在女性中,应考虑使用X-ALD,这些女性患有不明原因的渐进性性.
- 及时的生化和遗传评估对于准确的诊断至关重要.
- 准确的诊断可以为受影响的家庭提供适当的指导.
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