一名患有 MEGD(H)EL 综合征的婴儿接受人工耳蜗植入手术时的麻醉管理。

IF 2.3 3区 医学 Q2 ANESTHESIOLOGY
Nashwa Ahmed
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引用次数: 0

摘要

背景:该综合征具有以下特征3-甲基戊二酸尿症(MEG)、耳聋(D)、脑病(E)、Leigh 样综合征(L)。这种疾病是由丝氨酸活性位点含蛋白 1(SERAC1)基因的双倍突变引起的。如果这些患者除上述表现外还伴有肝病(H),则该综合征被称为 MEGD(H)EL。该综合征的病理特征与各种类型的先天性代谢错误相同:我们讨论了一名患有 MEGD(H)EL 综合征的 2 岁婴儿接受人工耳蜗植入手术的麻醉管理。我们讨论了这种散发性疾病的病理、遗传学和重要方面,这对麻醉师来说非常重要:结论:使用右美托咪定作为主要麻醉药物可能会给线粒体疾病患者带来非触发性麻醉剂的好处。右美托咪定和氯胺酮的混合使用可为手术镇静提供有效组合,主要适用于因潜在并发症而面临围术期并发症高风险的特定人群。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant.

Background: The syndrome has these features: 3-methylglutaconic aciduria (MEG), deafness(D), encephalopathy (E), Leigh-like syndrome (L). This disorder is caused by biallelic mutations in serine active site-containing protein 1 (SERAC1) gene. When these patients experience hepatopathy (H) in addition to the above manifestations, the syndrome is referred to as MEGD(H)EL. The pathology of this syndrome shares features with diverse types of inborn errors of metabolism.

Case presentation: We discussed the anaesthetic management of an infant 2-year-old suffering from MEGD(H)EL syndrome undergoing cochlear implant. We discuss the pathology, genetics and significant aspects of this sporadic disease which is important for anaesthesiologist.

Conclusions: The usage of dexmedetomidine as the main anaesthetic drug might have the benefit of a non-triggering anaesthetic agent in patients with a mitochondrial disease. Mixture of dexmedetomidine and ketamine provide an effective combination for procedural sedation, predominantly in select populations who are at a high risk of perioperative complications due to underlying co-morbid conditions.

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来源期刊
BMC Anesthesiology
BMC Anesthesiology ANESTHESIOLOGY-
CiteScore
3.50
自引率
4.50%
发文量
349
审稿时长
>12 weeks
期刊介绍: BMC Anesthesiology is an open access, peer-reviewed journal that considers articles on all aspects of anesthesiology, critical care, perioperative care and pain management, including clinical and experimental research into anesthetic mechanisms, administration and efficacy, technology and monitoring, and associated economic issues.
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