远端肌无力中性脂质沉积症一家系报告

Neutral lipid storage disease with distal weakness： report of one family

目的通过报道远端肌无力中性脂质沉积症一家系临床、病理特点并结合文献复习,探讨该病诊断、鉴别诊断要点.方法收集2008年1月就诊于我科的远端肌无力中性脂质沉积症一家系中2例患者的临床资料以及电生理检查和骨骼肌活体组织病理检查结果,提取DNA行基因检测,同时复习相关文献.结果本家系中2例患者为同胞姐妹,临床表现相似,均于30岁后发病,临床以四肢远端无力、肌肉萎缩为主要表现;血肌酸激酶均升高（分别为1067、740U/L）.肌电图检查均呈肌源性损害.骨骼肌活体组织病理检查,多数肌纤维内可见大量脂滴沉积.二代测序发现PNPLA2基因c.187＋1G〉A纯合剪切突变.结论本组2例中性脂质沉积症伴肌病患者以肢体远端无力发病,应与远端肌病相鉴别.肌肉活体组织检查发现肌纤维胞质中存在大量脂滴可确诊该病.二代测序有助于脂质沉积性肌病的分型诊断.

Objective To report the clinical and pathological features of one family with neutral lipid storage disease with distal weakness and review the literature , explore the diagnosis and differential diagnosis of the disease , and improve the understanding of the disease .Methods Clinical data of two patients of a family were collected , and next generation sequencing was performed after electrophysiological examination and pathological analysis of skeletal muscle biopsy .And related literature was reviewed .Results Two patients had similar presentations , both having symptoms after 30 years old.The main manifestations were weakness and atrophy of the distal limbs .The creatine kinase levels were increased （ 1067, 740 U/L） .Electromyography revealed myogenic lesions .Pathological analysis of skeletal muscle biopsy showed a large amount of lipid droplets deposition in most muscle fibers .Next generation sequencing revealed a homozygous splice mutation in PNPLA2 gene （ C.187 ＋1G 〉A） .Conclusions The two patients with neutral lipid storage disease with myopathy involve distal limbs , which should be distinguished with distal myopathy.The presence of large amounts of lipid droplets in the cytoplasm of muscle fibers can be used for the diagnosis of lipid storage myopathy .The next generation sequencing is helpful for the typing diagnosis of lipid deposition disease .