PDF(Pubmed)
Abstract：
BACKGROUND: Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen\'s congenital myotonia.
METHODS: We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan\'s anomaly, a hallmark of NLSD-M. A genetic panel was collected using next-generation sequencing (NGS) technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described.
CONCLUSIONS: Although uncommon, it is important to remember the possibility of association of pathogenic variants to explain a specific neuromuscular disease phenotype. The use of a range of complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.
METHODS: We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan\'s anomaly, a hallmark of NLSD-M. A genetic panel was collected using next-generation sequencing (NGS) technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described.
CONCLUSIONS: Although uncommon, it is important to remember the possibility of association of pathogenic variants to explain a specific neuromuscular disease phenotype. The use of a range of complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.
摘要：
背景：中性脂质贮积病伴肌病（NLSD-M）是一种常染色体隐性遗传疾病，在第3至第4十年左右表现为主要在肩带近端的慢性肌病。临床肌强直并不常见。我们将报告一例罕见的PNPLA2和CLCN1基因致病变异与NLSD-M的混合表型和Thomsen先天性肌强直的亚临床形式的关联。
方法：我们描述了一名患有慢性近端肌病的患者，在肌电图（EMG）上细微的临床肌强直和电肌强直。血清实验室分析显示高CK血症（CK1280mg/dL）。血液涂片分析显示Jordan异常,NLSD-M的标志使用下一代测序（NGS）技术收集了一个遗传小组，在支持两种不同诊断的基因上确定了两种致病变异：NLSD-M和Thomsen先天性肌强直，以前没有描述过其关联。
结论：虽然不常见，重要的是要记住致病变异的关联的可能性，以解释特定的神经肌肉疾病表型。使用一系列互补的方法，包括肌病遗传小组，在这种情况下，可能对诊断定义至关重要。
方法：我们描述了一名患有慢性近端肌病的患者，在肌电图（EMG）上细微的临床肌强直和电肌强直。血清实验室分析显示高CK血症（CK1280mg/dL）。血液涂片分析显示Jordan异常,NLSD-M的标志使用下一代测序（NGS）技术收集了一个遗传小组，在支持两种不同诊断的基因上确定了两种致病变异：NLSD-M和Thomsen先天性肌强直，以前没有描述过其关联。
结论：虽然不常见，重要的是要记住致病变异的关联的可能性，以解释特定的神经肌肉疾病表型。使用一系列互补的方法，包括肌病遗传小组，在这种情况下，可能对诊断定义至关重要。
