Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.

早期出现的常染色体显性肌病 ， 伴有空泡纤维和管状聚集体 ， 但无周期性麻痹 ，在 c.1583G > A 的患者中 （ p 。CACNA1S 基因中的 R528H ） 突变。

• 影响指数: 4.693
• 发表时间: 2024 May 22
• 来源期刊: J Neuromuscul Dis
• DOI: 10.3233/JND-230020
• PMID: 38788083
• 文章类型: Case Reports
• 作者列表: Bisciglia M,Kadhim H,Lecomte S,Vandernoot I,Desmyter L,Remiche G

关键词: CACNA1S; Hypokalemic periodic palsy; early onset myopathy; vacuolar myopathy

Mesh: Humans; Male; Aged; Calcium Channels, L-Type / genetics; Mutation; Muscular Diseases / genetics; Vacuoles / pathology genetics; Muscle, Skeletal / pathology; Age of Onset; Hypokalemic Periodic Paralysis / genetics

Abstract

Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates. Exome sequencing revealed a heterozygous p.R528H (c.1583G>A) mutation in the CACNA1S gene. CACNA1S-related HypoPP evolving to persistent myopathy in late adulthood is a well-known clinical condition. However, isolated progressive myopathy (without PP) was only exceptionally reported and never with an early onset. Reporting a case of early onset CACNA1S-related myopathy in a patient with no HypoPP we intend to alert clinicians to consider it in the differential diagnosis of younger adult-onset myopathies especially when featuring vacuolar changes.

摘要

CACNA1S基因的显性突变主要导致低钾性周期性麻痹（PP）（hypoPP）。一名68岁的男性先证者从35岁开始出现进行性近端无力。肌肉活检显示萎缩性纤维，空泡中含有管状聚集体。外显子组测序显示CACNA1S基因中的杂合p.R528H(c.1583G>A)突变。CACNA1S相关的HypoPP在成年后期发展为持续性肌病是一种众所周知的临床病症。然而,孤立性进行性肌病（无PP）仅有例外报道，从未出现早期发作。在没有HypoPP的患者中报告了早期发作的CACNA1S相关肌病的病例，我们打算提醒临床医生在年轻的成人发作性肌病的鉴别诊断中考虑它，尤其是在出现空泡变化时。