CAJ | 학술논문

目的：报道一例脂质沉积性肌病的临床、病理和基因改变特点。方法先证者为33岁男性，亚急性起病，首发颈肌无力，随后出现咀嚼肌和四肢无力，肌酶明显升高，临床酷似多发性肌炎。血尿有机酸分析未见典型氨基酸、有机酸及脂肪酸代谢病改变，对患者进行了神经电生理、神经肌肉活检以及 ETFA、ETFB、ETFDH 基因检测。结果骨骼肌病理改变为肌纤维内出现大量脂肪滴沉积，伴随肌纤维坏死、再生。出现小组分布的累及两型的小角状萎缩肌纤维提示伴随神经源性损害。ETFA、ETFB 基因检查基本正常，ETFDH 基因第3外显子发现 c.250G ﹥ A（Ala84Thr）杂合突变。结论颈部肌肉无力可能是脂质沉积性肌病早期特点，需要引起重视。尿有机酸筛查正常并不能排除该疾病，进一步的肌肉活检和基因检测是诊断的金标准。多种酰基辅酶 A 脱氢酶缺乏症患者可以出现周围神经的损害，常染色体隐性遗传疾病相应基因的一个杂合突变难以解释，需要进一步研究。
목적：보도일례지질침적성기병적림상、병리화기인개변특점。방법선증자위33세남성，아급성기병，수발경기무력，수후출현저작기화사지무력，기매명현승고，림상혹사다발성기염。혈뇨유궤산분석미견전형안기산、유궤산급지방산대사병개변，대환자진행료신경전생리、신경기육활검이급 ETFA、ETFB、ETFDH 기인검측。결과골격기병리개변위기섬유내출현대량지방적침적，반수기섬유배사、재생。출현소조분포적루급량형적소각상위축기섬유제시반수신경원성손해。ETFA、ETFB 기인검사기본정상，ETFDH 기인제3외현자발현 c.250G ﹥ A（Ala84Thr）잡합돌변。결론경부기육무력가능시지질침적성기병조기특점，수요인기중시。뇨유궤산사사정상병불능배제해질병，진일보적기육활검화기인검측시진단적금표준。다충선기보매 A 탈경매결핍증환자가이출현주위신경적손해，상염색체은성유전질병상응기인적일개잡합돌변난이해석，수요진일보연구。
Objective To summarize the clinical,pathological and genetic charactersitics of a case of riboflavin - responsive lipid myopa-thy. Methods The patient was a 33 year old man,whose initial syndrome was neck weakness,followed by the weakness of the masticatory muscle and limbs. It resembled the symptoms of polymyositis. Blood and urine organic acid analysis showed no typical changes of amino acids,organic acids and fatty acid metabolism disease. We performed nerve and muscle biopsy and ETFA,ETFB,ETFDH genetic testing. Results Muscle Bi-opsy study showed markedly increased lipid droplets in muscle fibers,accompanied by muscle fiber necrosis and regeneration. ETFA and ETFB ge-netic testing were normal,while the ETFDH gene analysis identified a c. 250G ﹥ A(Ala84Thr)heterozygous mutation. Conclusion Neck muscle weakness may be the early feature of lipid storage myopathy,which need to pay more attention. Normal urinary organic acid does not exclude the disease,further muscle biopsy and genetic testing are the gold standards for diagnosis. A heterozygous mutation for the autosomal recessive genetic disease is difficult to explain and requires further study.