CAJ | 학술논문

目的：探讨以反复跌倒发作为突发临床表现脂质沉积性肌病（lipid storage myopathy，LSM ）的临床特点、病理学改变、影像学诊断方法。方法选取1例临床确诊的LSM患者，调查其发病情况、病程变化及误诊情况；对其临床表现、病理学及影像学等方面进行研究。结果该患者青年起病，10a病程，临床主要表现为反复发作的双下肢无力，类似缺血性脑血管病的跌倒发作。磁共振平扫及血管成像（MRA）未发现脑部损害。腓肠肌开放式肌肉活检：光镜下见肌纤维轻度大小不一，肌纤维胞浆内可见明显大量小空泡。结论临床上貌似缺血性脑血管病的跌倒发作应注意与脂质沉积病相鉴别，头颅磁共振的和开放式肌肉活检是确诊该病的重要方法。
목적：탐토이반복질도발작위돌발림상표현지질침적성기병（lipid storage myopathy，LSM ）적림상특점、병이학개변、영상학진단방법。방법선취1례림상학진적LSM환자，조사기발병정황、병정변화급오진정황；대기림상표현、병이학급영상학등방면진행연구。결과해환자청년기병，10a병정，림상주요표현위반복발작적쌍하지무력，유사결혈성뇌혈관병적질도발작。자공진평소급혈관성상（MRA）미발현뇌부손해。비장기개방식기육활검：광경하견기섬유경도대소불일，기섬유포장내가견명현대량소공포。결론림상상모사결혈성뇌혈관병적질도발작응주의여지질침적병상감별，두로자공진적화개방식기육활검시학진해병적중요방법。
Objective To study the clinical and pathological characteristics of lipid storage myopathy with recurrent drop attack.Methods Comprehensive analysis of the characteristics of clinical ,laboratory and pathological of a patient with lipid storage myopathy was carried out.Results The biopsy in the skeletal muscle showed many fibers contained numerous vacuoles which was stained by oil red O.The blood lactic acid and creatases concentration was higher apparently.No lesion was found in MRI.Conclusion It is difficult to diagnose lipid storage myopathy with recurrent drop attack ,while skeletal muscle biopsy and pathological analysis is a trustworthy measure for the definite diagnosis of lipid storage myopathy.