Anti-Signal Recognition Particle Myopathy in the First Decade of Life
Anti-Signal Recognition Particle Myopathy in the First Decade of Life
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DOI：
10.1016/j.pediatrneurol.2011.04.009
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发表时间：
2011-08-01
影响因子：
3.8
通讯作者：
Nishino, Ichizo
中科院分区：
文献类型：
--
作者：
Suzuki, Shigeaki;Ohta, Masayasu;Nishino, Ichizo
信号识别颗粒的自身抗体与青少年和成人发病的坏死性肌病有关。然而，只有少数十几岁的患者与反信号识别颗粒肌病已被报道，迄今为止，据我们所知，没有患者年龄小于10岁已被记录。我们描述了2名日本女孩与反信号识别颗粒肌病谁开发的症状，从5岁和9岁，分别。两例患者均出现进行性肌无力和萎缩，无肌痛。最初怀疑面肩肱型肌营养不良症，因为不对称的肩带肌肉参与在一个病人，和肢带型肌营养不良症，由于近端肢体肌肉无力的其他。没有肌外表现，包括发热或关节炎。血清肌酸激酶水平升高至2，467 - 4，629 IU/L。肌肉活检结果显示坏死性肌病伴轻微至轻度肌内膜纤维化，但无炎性浸润。免疫抑制剂对肌无力无效，导致明显残疾。反信号识别颗粒肌病可发生在生命的第一个十年，并应包括在进行性肢带肌无力和肌酸激酶水平高的儿童的鉴别诊断。(C)2011 Elsevier Inc. All rights reserved.
Autoantibodies to signal recognition particle have been associated with juvenile and adult-onset necrotizing myopathy. However, only a few teenage patients with anti-signal recognition particle myopathy have been reported, and to date, to our knowledge, no patient younger than 10 years has been documented. We describe 2 Japanese girls with anti-signal recognition particle myopathy who developed symptoms from the ages of 5 and 9 years, respectively. Both patients had progressive muscle weakness and atrophy without myalgia. Facioscapulohumeral muscular dystrophy was initially suspected because of asymmetric shoulder girdle muscle involvement in one patient, and limb girdle muscular dystrophy due to proximal limb muscle weakness in the other. There were no extramuscular manifestations, including fever or arthritis. Serum creatine kinase levels were elevated to 2,467-4,629 IU/L Results of muscle biopsy revealed necrotizing myopathy with minimal to mild endomysial fibrosis but without inflammatory infiltrates. Immunosuppressive agents were not effective for muscle weakness, resulting in marked disability. Anti-signal recognition particle myopathy can occur in the first decade of life and should be included in the differential diagnosis for children with progressive limb girdle muscle weakness and high creatine kinase levels. (C) 2011 Elsevier Inc. All rights reserved.