眼瘫和上下垂可由多种罕见或更普遍的疾病引起,其中一些可以成功治疗。在这次审查中,我们提供线索帮助诊断这些疾病,根据临床症状,眼外肌(EOM)的受累方式和影像学特征。包括提上睑肌在内的EOM功能障碍可能是由于肌肉无力,影响神经支配的解剖学限制或病理学。进行了全面的文献回顾,以寻找临床和影像学线索,以诊断和随访上睑下垂和眼瘫。我们使用五种模式作为差分诊断推理和症状学模式识别的框架,个别患者的EOM受累情况及影像学结果。五种模式的特征是存在上下垂的组合,眼瘫,复视,疼痛,突增,眼球震颤,眶外症状,对称或症状波动。每种模式都与解剖位置以及遗传性或获得性疾病有关。遗传性肌肉疾病通常会导致不以复视为主要特征的眼瘫,而在获得性眼肌疾病中,眼瘫通常是不对称的,并可伴有眼球突出和疼痛。波动是获得性突触疾病如重症肌无力的标志。眼球震颤指示中枢神经系统病变。第二,特定的EOM参与模式也可以提供有价值的诊断线索。在遗传性肌肉疾病中,例如慢性进行性眼外肌麻痹(CPEO)和眼咽肌营养不良(OPMD),通常涉及上直肌。在神经性疾病中,EOM的受累模式可以与特定的颅神经有关。在重症肌无力中,这种模式在患者体内随时间变化。最后,眼眶成像可以帮助诊断。在遗传性肌病疾病中通常观察到EOM的脂肪替代,比如CPEO。相比之下,在获得性肌肉疾病如Graves眼眶病中经常观察到炎症和体积增加。在患有眼瘫和上下垂的疾病中,临床症状的特定模式,EOM受累模式和眼眶成像为诊断提供了有价值的信息,对疾病进展的随访和对疾病病理生理学的理解有价值.
Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra-ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation. A comprehensive literature review was performed to find clinical and imaging clues for the diagnosis and follow-up of ptosis and ophthalmoparesis. We used five patterns as a framework for differential diagnostic reasoning and for pattern recognition in symptomatology, EOM involvement and imaging results of individual patients. The five patterns were characterized by the presence of combination of ptosis,
ophthalmoparesis, diplopia, pain, proptosis, nystagmus, extra-orbital symptoms, symmetry or fluctuations in symptoms. Each pattern was linked to anatomical locations and either hereditary or acquired diseases. Hereditary muscle diseases often lead to
ophthalmoparesis without diplopia as a predominant feature, while in acquired eye muscle diseases
ophthalmoparesis is often asymmetrical and can be accompanied by proptosis and pain. Fluctuation is a hallmark of an acquired synaptic disease like myasthenia gravis. Nystagmus is indicative of a central nervous system lesion. Second, specific EOM involvement patterns can also provide valuable diagnostic clues. In hereditary muscle diseases like chronic progressive external ophthalmoplegia (CPEO) and oculo-pharyngeal muscular dystrophy (OPMD) the superior rectus is often involved. In neuropathic disease, the pattern of involvement of the EOM can be linked to specific cranial nerves. In myasthenia gravis this pattern is variable within patients over time. Lastly, orbital imaging can aid in the diagnosis. Fat replacement of the EOM is commonly observed in hereditary myopathic diseases, such as CPEO. In contrast, inflammation and volume increases are often observed in acquired muscle diseases such as Graves\' orbitopathy. In diseases with
ophthalmoparesis and ptosis specific patterns of clinical symptoms, the EOM involvement pattern and orbital imaging provide valuable information for diagnosis and could prove valuable in the follow-up of disease progression and the understanding of disease pathophysiology.