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

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。

Objective:Report a case of LPIN1 mutation-related congenital myopathy,and investigate the pheno-types 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.Mus-cle 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.