背景:淀粉样变是一种罕见的疾病,其特征是淀粉样蛋白在各种组织和器官中的异常沉积。虽然系统性淀粉样变性已经有了很好的记录,眼外肌中的淀粉样蛋白沉积异常罕见,只有35例报告病例。该病例报告阐明了在表现为眼球突出和复视的患者的鉴别诊断中考虑淀粉样变性的重要性。通常与甲状腺眼病有关。
方法:一名二十多岁的女性因主诉复视而就医。她的眼部检查显示,除了外斜视和眼球突出外,几乎正常。轨道磁共振成像显示几乎所有眼部肌肉的梭形扩大,通常在甲状腺眼病中观察到的表现。然而,尽管有皮质类固醇治疗,她的症状没有改善。鉴于对常规治疗的反应异常缺乏,肌肉的不均匀增强,进行了眼外肌活检。该活检在肌肉组织内产生了独特的发现-淀粉样蛋白沉积。由于影响眼外肌的淀粉样变性极为罕见,这一发现尤其引人入胜,全世界记录的病例不到三打。
结论:这个独特的案例强调了对诊断眼球突出和复视患者的综合方法的迫切需要。虽然这些症状通常归因于甲状腺眼病,必须考虑其他诊断,如淀粉样变性,特别是当标准治疗不能产生结果。眼外肌中淀粉样蛋白沉积的发现,虽然极为罕见,强调彻底鉴别诊断的重要性。总之,本病例报告强调了在临床实践中保持警惕的重要性,鼓励眼科医生在面对具有挑战性的病例时探索不太常见的诊断可能性。需要进一步的研究和临床调查才能更好地了解淀粉样变性影响眼外肌的机制和潜在治疗方法。
BACKGROUND: Amyloidosis is a rare condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs. While systemic amyloidosis has been well-documented, amyloid deposition in extraocular muscles is an exceptionally rare occurrence, with only 35 reported cases. This
case report sheds light on the importance of considering amyloidosis in the differential diagnosis of patients presenting with proptosis and diplopia, which are often associated with thyroid eye disease.
METHODS: A woman in her twenties sought medical attention due to a complaint of diplopia. Her ocular examination revealed almost normal findings except for exotropia and proptosis. Orbital magnetic resonance imaging displayed fusiform enlargement of nearly all eye muscles, a presentation typically observed in thyroid eye disease. However, despite corticosteroid therapy, her symptoms showed no improvement. Given the unusual lack of response to conventional treatment, and inhomogeneous enhancement of the muscle, an extraocular muscle biopsy was conducted. This biopsy yielded a unique finding-amyloid deposition within the muscle tissue. This discovery was particularly intriguing due to the extreme rarity of amyloidosis affecting extraocular muscles, with fewer than three dozen documented cases worldwide.
CONCLUSIONS: This unique
case underscores the critical need for a comprehensive approach to diagnosing patients with proptosis and diplopia. While these symptoms are commonly attributed to thyroid eye disease, it is essential to consider alternative diagnoses such as amyloidosis, especially when standard treatments fail to yield results. The discovery of amyloid deposition in the extraocular muscles, although exceedingly rare, emphasizes the significance of a thorough differential diagnosis. In conclusion, this
case report highlights the importance of vigilance in clinical practice, encouraging ophthalmologists to explore less common diagnostic possibilities when faced with challenging cases. Further research and clinical investigation are warranted to better understand the mechanisms and potential treatments for amyloidosis affecting the extraocular muscles.