Neuromuscular Disease Centre, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189 Rome, Italy.
Department of Medical Oncology, San Camillo Forlanini Hospital, Rome, Italy.
Neuromuscul Disord. 2020 May;30(5):420-423. doi: 10.1016/j.nmd.2020.02.013. Epub 2020 Feb 26.
We present extensive clinical, serological, morphological and muscle imaging data of a 66-year-old man with isolated bilateral ptosis and external ophthalmoplegia secondary to Immune checkpoint inhibitors (Pembrolizumab). He had elevated CK level (>5000 UI/L). No facial, bulbar, proximal, distal or axial muscular weakness was observed. Electromyography (EMG) showed myopathic pattern, with spontaneous activity. Myositis specific antibodies and anti-striational antibodies were negative. Cardiac and respiratory functions were preserved. Skeletal muscle MRI was unremarkable, whereas extraocular muscles revealed bilateral hyperintensities in inferior rectus, medial rectus and superior oblique muscles in both T1 and STIR sequences, with mild muscle atrophy. Muscle biopsy showed endomysial inflammatory infiltrates, MHC-1 expression was observed in clusters of non-necrotic cells. CD56 positive cells were observed in perifascicular regions. Patient discontinued Pembrolizumab and received corticosteroid treatment with progressive clinical improvement and CK normalization. Our findings support this clinical entity, suggesting that isolated ocular myositis represents a subgroup of generalised myositis with predominant ocular symptoms.
我们呈现了一位 66 岁男性的广泛临床、血清学、形态学和肌肉影像学数据，他因免疫检查点抑制剂（Pembrolizumab）而出现孤立性双侧上睑下垂和外眼肌麻痹。他的 CK 水平升高（>5000 UI/L）。没有观察到面部、球部、近端、远端或轴性肌肉无力。肌电图（EMG）显示肌病模式，伴有自发性活动。肌炎特异性抗体和抗横纹肌抗体阴性。心脏和呼吸功能正常。骨骼肌 MRI 无明显异常，而眼外肌在 T1 和 STIR 序列中均显示下直肌、内直肌和上斜肌双侧高信号，伴有轻度肌肉萎缩。肌肉活检显示肌内膜炎症浸润，非坏死细胞簇中观察到 MHC-1 表达。在神经束旁区域观察到 CD56 阳性细胞。患者停用 Pembrolizumab 并接受皮质类固醇治疗，临床症状逐渐改善，CK 恢复正常。我们的发现支持这一临床实体，表明孤立性眼肌炎代表以眼部症状为主的全身性肌炎的一个亚组。
