Rajput Rehan, Sachdev Amun, Din Nizar, Damato Erika Marie, Murray Aidan
a Birmingham Midland Eye Centre , Sandwell and West Birmingham Hospitals NHS Trust , Birmingham , UK.
b Ophthalmology Department, Whipps Cross University Hospital , London , UK.
Orbit. 2018 Oct;37(5):385-388. doi: 10.1080/01676830.2017.1423350. Epub 2018 Jan 15.
We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis.
A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis. Clinical examination showed EOM were grossly restricted in the right eye with a ptosis and normal in the left eye. Serum AchRA was positive on serum enzyme-linked immunosorbent assay (ELISA) however, following two months of oral pyridostigmine therapy there were no signs of clinical improvement. The initial serum sample sent was retested for AchRA by radio-immunoassay (RIA) which came back negative. Subsequently a muscle biopsy was requested which showed the presence of ragged red fibres.
Unilateral ptosis and ophthalmoplegia is an unusual presentation for CPEO which characteristically produces bilateral symmetrical motility defects. In addition to Myasthenia Gravis elevated AchRA levels have been reported in other autoimmune conditions such as Primary biliary cirrhosis, Eaton Lambert syndrome and Graves's ophthalmopathy. We also highlight the superiority of RIA versus ELISA in the detection of AchRA and illustrate the diagnostic challenge of investigating and managing myogenic ptosis in this complex cohort of patients.
我们报告一例罕见病例，该病例具有单侧慢性进行性眼外肌麻痹（CPEO）的非典型表现特征，乙酰胆碱受体抗体（AchRA）检测出现假阳性，导致诊断延迟。我们阐述了该病例的单侧性，并展示了在此类患者中进行肌源性上睑下垂矫正的注意事项。我们还讨论了AchRA假阳性的鉴别诊断，AchRA检测是上睑下垂检查中常用的一项检测。
一名34岁女性，有超过3年的缓慢进展性单侧右眼眼球运动受限和上睑下垂病史。临床检查显示右眼眼外肌严重受限伴上睑下垂，左眼正常。血清酶联免疫吸附测定（ELISA）显示血清AchRA呈阳性，然而，口服吡啶斯的明治疗两个月后，没有临床改善的迹象。最初送检的血清样本通过放射免疫测定（RIA）重新检测AchRA，结果为阴性。随后进行了肌肉活检，结果显示存在破碎红纤维。
单侧上睑下垂和眼肌麻痹是CPEO不常见的表现，CPEO通常会产生双侧对称性运动缺陷。除重症肌无力外，在其他自身免疫性疾病如原发性胆汁性肝硬化、伊顿-兰伯特综合征和格雷夫斯眼病中也有AchRA水平升高的报道。我们还强调了RIA在检测AchRA方面优于ELISA，并说明了在这一复杂患者群体中研究和处理肌源性上睑下垂的诊断挑战。
