Department of Pathology, Neuropathology Division, University of Washington Medical Center, Seattle, WA.
Department of Pathology, Center for Precision Diagnostics, University of Washington Medical Center, Seattle, WA.
Neuromuscul Disord. 2018 Jul;28(7):606-609. doi: 10.1016/j.nmd.2018.04.010. Epub 2018 Apr 19.
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy. Genetic testing revealed a homozygous splice site variant in PNPLA2, c.757 + 1G > T. This case, in combination with the one previously reported case of this PNPLA2 variant, also in a family of Hmong descent, suggests this particular variant may be unique to the Hmong population, a Southeast Asian minority group living in the United States, who immigrated to the United States as refugees after the Vietnam War.
伴肌病的中性脂肪贮积症是一种罕见的脂质代谢紊乱，由 Patatin-Like Phospholipase Domain Containing 2（PNPLA2）基因突变引起。由于临床表现多样，诊断常常被延误，这令人担忧，因为其患心肌病的风险增加。为了提高诊断的速度和准确性，需要更好地进行表型-基因型特征描述。在这里，我们描述了一位 32 岁的苗族女性，她患有进行性肌肉疼痛和无力，并进行了肌肉活检，具有脂质贮积性肌病的特征。基因检测显示 PNPLA2 中的一个纯合剪接位点变异，c.757 + 1G > T。该病例与之前报道的一例具有相同 PNPLA2 变异的病例一起，也发生在一个苗族家庭中，这表明该特定变异可能仅存在于苗族人群中，苗族是生活在美国的东南亚少数民族，他们在越南战争后作为难民移民到美国。
