Khan Aadil M, Ahmad Faim, Rehman Usama, Jindal Himanshu, Harimohan Hridya
Internal Medicine, Ganesh Shankar Vidyarthi Memorial Medical College, Kanpur, IND.
Anesthesia, Mayo Hospital, Lahore, PAK.
Cureus. 2021 Jan 16;13(1):e12737. doi: 10.7759/cureus.12737.
Antisynthetase syndrome is an autoimmune condition that manifests clinically through signs and symptoms, such as interstitial lung disease, myositis, Raynaud's phenomenon, fever, hyperkeratotic fingertips (mechanic's hands), and arthritis. It is associated with antibodies against aminoacyl tRNA synthetase enzyme, the most common autoantibody being the anti-Jo-1. An 18-year-old girl presented with weakness of both the upper and lower limb, swelling and generalized body pain, difficulty in swallowing. MRI of the thigh was highly suggestive of myositis with symmetrical bilateral involvement. Based on proximal muscle weakness, elevated creatine phosphokinase (CPK), and lactate dehydrogenase (LDH), strongly positive anti-nuclear antibodies human epithelial cell type-2 (ANA-HEp2), and a normal nerve conduction velocity test with precise MRI findings, a diagnosis of polymyositis was made. She was given bolus intravenous methylprednisolone for five days, followed by oral methylprednisolone with subcutaneous methotrexate weekly. She reported a 50% improvement in muscle weakness; however, partial bulbar weakness persisted at the time of discharge. On her next follow-up, her blood investigations for auto-antibodies were done. The autoantibodies anti-Jo-1 (3+), Ro-52 (2+), and Mi-2β (2+) were found to be positive. These investigations, coupled with the clinical features she was presenting, finally led us to conclude that it was a case of polymyositis complicated by the antisynthetase syndrome.
抗合成酶综合征是一种自身免疫性疾病,临床上通过间质性肺病、肌炎、雷诺现象、发热、指尖角化过度(技工手)和关节炎等体征和症状表现出来。它与抗氨酰tRNA合成酶抗体相关,最常见的自身抗体是抗Jo-1。一名18岁女孩出现上肢和下肢无力、肿胀及全身疼痛、吞咽困难。大腿MRI高度提示双侧对称性受累的肌炎。基于近端肌无力、肌酸磷酸激酶(CPK)和乳酸脱氢酶(LDH)升高、人上皮细胞2型抗核抗体(ANA-HEp2)强阳性以及神经传导速度测试正常且MRI检查结果明确,诊断为多发性肌炎。给予静脉注射甲泼尼龙冲击治疗5天,随后口服甲泼尼龙并每周皮下注射甲氨蝶呤。她报告肌无力改善了50%;然而,出院时仍存在部分延髓肌无力。在她的下一次随访中,进行了自身抗体的血液检查。发现抗Jo-1(3+)、Ro-52(2+)和Mi-2β(2+)自身抗体呈阳性。这些检查结果,结合她呈现的临床特征,最终使我们得出结论,这是一例并发抗合成酶综合征的多发性肌炎病例。