Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neuromuscular metabolic disorder caused by pathogenic variants in PNPLA2. It typically presents in adults as a progressive myopathy and is associated with myocardiopathy, hepatic involvement, and high creatine kinase levels. Only three children and adolescents with neutral lipid storage disease with myopathy have been reported. We report a female infant with congenital hypotonia born to consanguineous parents, whose mother presented with polyhydramnios during pregnancy. She demonstrated delayed acquisition of motor milestones, hepatomegaly, and elevated creatine kinase levels. Homozygous pathogenic variants in PNPLA2 were identified. Lipid accumulation was observed within the muscle fibers and Jordans' anomaly was observed in a blood smear. This is the first report to describe an infant with mildly symptomatic neutral lipid storage disease with myopathy and demonstrate hepatic involvement in a pediatric patient. Despite her mild symptoms, her ancillary test results were markedly abnormal.

中文翻译：

---

早发性中性脂质贮积病伴先天性肌张力减退和肝肿大的肌病

伴有肌病的中性脂质贮积病是一种由 PNPLA2 致病变异引起的极其罕见的遗传性常染色体隐性神经肌肉代谢疾病。它通常在成人中表现为进行性肌病，并与心肌病、肝脏受累和高肌酸激酶水平有关。仅有 3 名儿童和青少年患有中性脂质贮积病伴肌病。我们报告了一个由近亲父母所生的先天性肌张力减退的女婴，其母亲在怀孕期间出现羊水过多。她表现出运动里程碑的延迟获得、肝肿大和肌酸激酶水平升高。鉴定了 PNPLA2 中的纯合致病变异。在肌肉纤维中观察到脂质积累，在血涂片中观察到 Jordans 异常。这是第一次描述患有轻度症状的中性脂质贮积病伴肌病的婴儿并证明儿科患者肝脏受累的报告。尽管她的症状很轻，但她的辅助检查结果却明显异常。