珍珠和牡蛎:严重的肌强直危机类似恶性高热。

IF 7.7 1区 医学 Q1 CLINICAL NEUROLOGY
Neurology Pub Date : 2025-04-22 Epub Date: 2025-03-24 DOI:10.1212/WNL.0000000000213497
Anil R Wadhwani, Ashna Aggarwal, Steven Loscalzao, Megan L McSherry, Justin L Lockman, John Frederick Brandsema, Jennifer McGuire, Susan Matesanz
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引用次数: 0

摘要

肌强直性疾病患者有发生严重全身性肌肉收缩的危险,称为“肌强直性危象”。对于那些非营养不良型肌强直(NDM)患者,肌强直危机最常见的触发因素是暴露于琥珀酰胆碱。在本病例中,一名10岁的NDM女性患者继发于SCN4A致病变异,在上呼吸道感染和哮喘发作的情况下,使用β -肾上腺素能激动剂(ß-激动剂)治疗,出现了严重的肌强直性危像。她表现出全身僵硬和高代谢的特征,类似于麻醉相关的恶性高热。管理需要多学科合作,复杂的插管策略,并在儿科重症监护室延长课程。我们怀疑,这一危机的部分原因是在她最初的哮喘治疗期间持续使用ß-激动剂。针对肌细胞激活级联的顺序步骤的治疗缓和了收缩装置,导致临床硬度的改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pearls & Oy-sters: Severe Myotonic Crisis Resembling Malignant Hyperthermia.

Patients with myotonic disorders are at risk for severe generalized muscle contraction, referred to as a "myotonic crisis." For those patients with nondystrophic myotonia (NDM), the most common trigger of a myotonic crisis is exposure to succinylcholine. In this case, a 10-year-old female patient with NDM secondary to an SCN4A pathogenic variant developed a severe myotonic crisis in the setting of an upper respiratory infection and asthma flare treated with a beta-adrenergic agonist (ß-agonist). She presented with generalized rigidity and features of hypermetabolism resembling an anesthetic-related malignant hyperthermia. Management necessitated multidisciplinary collaboration, a complex intubation strategy, and an extended course in the pediatric intensive care unit. We suspected that this crisis was precipitated in part by continuous ß-agonist use during her initial asthma management. Treatments targeting sequential steps of the myocyte activation cascade tempered the contractile apparatus leading to clinical improvement in rigidity.

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来源期刊
Neurology
Neurology 医学-临床神经学
CiteScore
12.20
自引率
4.00%
发文量
1973
审稿时长
2-3 weeks
期刊介绍: Neurology, the official journal of the American Academy of Neurology, aspires to be the premier peer-reviewed journal for clinical neurology research. Its mission is to publish exceptional peer-reviewed original research articles, editorials, and reviews to improve patient care, education, clinical research, and professionalism in neurology. As the leading clinical neurology journal worldwide, Neurology targets physicians specializing in nervous system diseases and conditions. It aims to advance the field by presenting new basic and clinical research that influences neurological practice. The journal is a leading source of cutting-edge, peer-reviewed information for the neurology community worldwide. Editorial content includes Research, Clinical/Scientific Notes, Views, Historical Neurology, NeuroImages, Humanities, Letters, and position papers from the American Academy of Neurology. The online version is considered the definitive version, encompassing all available content. Neurology is indexed in prestigious databases such as MEDLINE/PubMed, Embase, Scopus, Biological Abstracts®, PsycINFO®, Current Contents®, Web of Science®, CrossRef, and Google Scholar.
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