Zakaria Yasmina, Yahya Naji, Kissani Najib
Neurology, Mohamed VI University Hospital of Marrakesh, Cadi Ayad University, Marrakesh, MAR.
Neuroscience, Neuroscience Research Laboratory, Marrakesh Medical School, Marrakesh, MAR.
Cureus. 2024 Mar 30;16(3):e57289. doi: 10.7759/cureus.57289. eCollection 2024 Mar.
Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by alpha-galactosidase A deficiency, resulting in globotriaosylceramide accumulation and diverse clinical manifestations. We report a case of a 22-year-old male presenting with cochleovestibular disorders as the initial FD manifestation, alongside a literature review. Diagnostic evaluation revealed reduced alpha-galactosidase A activity, confirming FD. Cochleovestibular involvement, although underexplored, significantly affects FD patients, often presenting with sudden deafness or sensorineural hearing loss. Prompt diagnosis and enzyme replacement therapy are crucial for managing FD. Otolaryngologists play a key role in early detection and intervention. This case underscores the importance of considering FD in cases of hearing loss, tinnitus, or vertigo, emphasizing the need for heightened awareness among healthcare providers.
法布里病（FD）是一种X连锁溶酶体贮积症，其特征为α-半乳糖苷酶A缺乏，导致球三糖神经酰胺蓄积并出现多种临床表现。我们报告一例22岁男性，以耳蜗前庭功能障碍作为法布里病的首发表现，并进行文献复习。诊断评估显示α-半乳糖苷酶A活性降低，确诊为法布里病。尽管耳蜗前庭受累情况尚未得到充分研究，但对法布里病患者影响显著，常表现为突发性耳聋或感音神经性听力损失。及时诊断和酶替代疗法对法布里病的治疗至关重要。耳鼻喉科医生在早期发现和干预中发挥关键作用。该病例强调了在听力损失、耳鸣或眩晕病例中考虑法布里病的重要性，突出了医疗服务提供者提高认识的必要性。
