两种载脂蛋白 L 家族成员 2 杂合突变导致伴有肌病的中性脂肪贮积症：病例报告。
Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.
机构信息
Air Force Medical Center, Air Force Medical University, Beijing, China.
Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA, Army Medical University, 10 Changjiang Branch Road, Yuzhong District, Chongqing, 400042, China.
出版信息
BMC Musculoskelet Disord. 2024 Aug 23;25(1):661. doi: 10.1186/s12891-024-07772-9.
BACKGROUND
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy.
CASE PRESENTATION
We herein report a 36-year-old Asian male presenting with progressive limb weakness, muscle atrophy of limbs and trunk, dysarthria, and heart failure. Electromyography indicated myogenic changes, and muscle biopsy results revealed characteristics of lipid storage myopathy. Genetic analysis of PNPLA2 revealed two heterozygous mutations: c.757 + 1G > T (chr11-823588, splice-5) on intron 6 and c.919delG (chr11-823854, p.A307Pfs*13) on exon 7. The patient improved limb strength, and dysarthria disappeared after the Medium Chain Fatty Acids diet.
CONCLUSIONS
In conclusion, we report for the first time that the two heterozygous mutations PNPLA2 c.919delG and c.757 + 1G > T together induced NLSDM, which was confirmed by muscle biopsy.
背景
中性脂质贮积病伴肌病（NLSDM）是一种罕见的脂质代谢紊乱疾病，由 PNPLA2 基因突变引起。临床表现具有异质性，诊断常被延误，通常由于心肌病风险增加而引起患者关注。
病例介绍
我们在此报告一例 36 岁亚洲男性，表现为进行性四肢无力、四肢和躯干肌肉萎缩、构音障碍和心力衰竭。肌电图提示肌源性改变，肌肉活检结果显示脂质贮积性肌病特征。PNPLA2 的基因分析显示两个杂合突变：第 6 内含子上的 c.757 + 1G > T（chr11-823588，剪接 5）和第 7 外显子上的 c.919delG（chr11-823854，p.A307Pfs*13）。患者经中链脂肪酸饮食治疗后四肢肌力改善，构音障碍消失。
结论
总之，我们首次报道了两个杂合突变 PNPLA2 c.919delG 和 c.757 + 1G > T 共同导致 NLSDM，经肌肉活检证实。
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