文章摘要
高华杰，季苏琼，马雪，毕抓劲，张清，杨梦歌，卜碧涛.LPIN1基因突变所致先天性肌病1例报道并文献复习[J].神经损伤功能重建,2021,16(10):572-575
LPIN1基因突变所致先天性肌病1例报道并文献复习
LPIN1 Mutation-related Congenital Myopathy: A Case Report and Literature Review
  
DOI：
中文关键词: 先天性肌病  横纹肌溶解  LPIN1基因
英文关键词: congenital myopathy  rhabdomyolysis  LPIN1 gene
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作者单位
高华杰，季苏琼，马雪，毕抓劲，张清，杨梦歌，卜碧涛 华中科技大学同 济医学院附属同 济医院神经内科 
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中文摘要:
      目的：报道1例LPIN1基因突变引起的先天性肌病，加强对常染色体隐性遗传的LPIN1基因突变相关 表型的认识。方法：收集1例先天性肌病患者的临床表现、实验室检查、影像学表现、肌肉病理以及基因检测 结果，结合文献复习进行分析讨论。结果：患者为男性儿童，自幼肢体肌力差。体格检查见肌张力低下，肢体 肌力差，Gower（+）。血肌酸激酶升高。肌电图示肌源性损害。肌肉核磁见双侧大、小腿肌群广泛受累。肌 肉病理见I型纤维占明显优势，约70%～80%。Sanger测序示LPIN1基因纯合突变（c.357_358insCT）。搜索 既往报道的LPIN1基因相关肌病患者66例，所有患者均表现为横纹肌溶解（肌酸激酶显著增高、肌痛、血红 蛋白尿），肌肉核磁表现无特异性，最常见合并心肌受累。结论：本病例系国内首次报道LPIN1基因突变所致 的先天性肌病。肌肉活检有助于病理诊断，基因检测对遗传方式确定具有决定意义。
英文摘要:
      Report a case of LPIN1 mutation-related congenital myopathy, and investigate the phenotypes associated with the autosomal recessive LPIN1 mutation. Methods: A patient with congenital myopathy was described. The clinical data, laboratory test results, muscle pathology, and gene screening were reported. Relevant literature was reviewed for further analysis. Results: The patient was a male child who had suffered poor muscle strength since young. Physical examination revealed hypotonia, poor limb muscle strength, and Gower’s sign. Serum creatine kinase (CK) level was increased. Electromyogram (EMG) showed myogenic damage. Muscle MRI showed the thigh and calf muscles on both sides were extensively damaged. Muscle pathology demonstrated that type I fibers were dominant at about 70%~80%. Homozygous mutation of the LPIN1 gene (c.357_ 358insCT) was identified by Sanger sequencing. We collected data of 66 cases of LPIN1 gene-related myopathy from MEDLINE. All patients presented with rhabdomyolysis (significant increase in creatine kinase, myalgia, and hemoglobinuria). Muscle MRI manifestation was largely normal. Myocardial involvement was the most common combined type of congenital myopathy. Conclusion: This is the first report in the country of congenital myopathy due to an autosomal recessive inheritance of a LPIN1 mutation. Muscle biopsy is useful for diagnosis, and gene analysis is crucial in confirming the inherited pattern.
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