Szabo Nora, Lukacs Szilveszter, Gunasekera Wiranthi, Danko Katalin
Division of Clinical Immunology, Third Department of Internal Medicine, Institute of Internal Medicine, University of Debrecen Medical and Health Science Centre, Moricz Zs. str 22, 4004, Debrecen, Hungary.
Clin Rheumatol. 2008 Oct;27(10):1329-31. doi: 10.1007/s10067-008-0946-5. Epub 2008 Jul 1.
Antisynthetase syndrome is a type of Idiopathic Inflammatory Myopathy (IIM) associated with anti-Jo1 antibody. Kennedy's disease or X-linked spinal and bulbar muscular atrophy (SBMA) is a rare neuromuscular disease. We describe the case report of a 53-year-old man who presented with proximal muscle weakness and a history of bilateral hand tremor. Initial physical examination demonstrated "mechanic's hands", Raynaud's phenomenon, having elevated creatine kinase and lactate dehydrogenase levels and anti-Jo1 antibody positivity. His muscle biopsy demonstrated inflammatory infiltrate characteristic of IIM. Considering these findings, we reached the diagnosis of antisynthetase syndrome and commenced immunosuppressive therapy. On follow-up examination, he had developed dysphagia, and his tremor had worsened. His electroneurogram result was characteristic of Kennedy's disease, and the genetic test result showed an allele with 44 CAG repeat expansion in the androgen receptor gene of the X chromosome. This confirmed that in addition to antisynthetase syndrome, he also had Kennedy's disease. This patient now receives immunology and neurology follow-up. His symptoms have improved with low dose corticosteroids, propranolol for tremor, vitamin B supplementation, and physiotherapy. This article presents a rare case report of a patient with concurrent antisynthetase syndrome and Kennedy's disease, both of which lead to elevated creatine kinase levels and muscle weakness, thus, underpinning the importance of careful follow-up of patients with IIM and maintaining an open mind to other diagnoses when faced with refractory and/or new symptoms.
抗合成酶综合征是一种与抗Jo1抗体相关的特发性炎性肌病（IIM）。肯尼迪病或X连锁脊髓和延髓肌萎缩症（SBMA）是一种罕见的神经肌肉疾病。我们报告了一例53岁男性患者的病例，该患者表现为近端肌无力和双侧手部震颤病史。初始体格检查发现“技工手”、雷诺现象，肌酸激酶和乳酸脱氢酶水平升高，抗Jo1抗体阳性。他的肌肉活检显示出IIM的炎性浸润特征。考虑到这些发现，我们诊断为抗合成酶综合征并开始免疫抑制治疗。在随访检查中，他出现了吞咽困难，震颤也加重了。他的神经电生理检查结果具有肯尼迪病的特征，基因检测结果显示X染色体雄激素受体基因中有一个等位基因具有44个CAG重复扩增。这证实了除抗合成酶综合征外，他还患有肯尼迪病。该患者目前接受免疫学和神经病学随访。他的症状通过低剂量皮质类固醇、用于震颤的普萘洛尔、补充维生素B和物理治疗得到了改善。本文报告了一例罕见的同时患有抗合成酶综合征和肯尼迪病的患者，这两种疾病均导致肌酸激酶水平升高和肌无力，因此强调了对IIM患者进行仔细随访以及在面对难治性和/或新症状时对其他诊断保持开放思维的重要性。
