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一名无汗性外胚层发育不良患者的多核肌病。

Multicore myopathy in a patient with anhidrotic ectodermal dysplasia.

作者信息

Gordon C P, Litz S

机构信息

Department of Anaesthesia, Izaak Walton Killam Children's Hospital, Halifax, Nova Scotia, Canada.

出版信息

Can J Anaesth. 1992 Nov;39(9):966-8. doi: 10.1007/BF03008347.

Abstract

We report a patient with multicore myopathy, a rare myopathy not previously reported in the anaesthetic literature. It is characterised by a myopathy of proximal muscles which tends to follow a benign course but may be associated with a severe form of cardiomyopathy. The myopathy is related to central core disease so these patients should be considered to have a potential for developing malignant hyperthermia. Complicating this case was an associated anhidrotic type of ectodermal dysplasia resulting in the absence of sweating, febrile episodes, recurrent pulmonary infections, conical and missing teeth, scaly skin and fine, sparse hair. The patient had a scoliosis repair which was uneventful but died three weeks later following a major pulmonary aspiration while on the ward. The cause of the aspiration is thought to have been unsuspected laryngeal incompetence associated with ectodermal dysplasia, the myopathy involving his bulbar muscles and analgesic medication.

摘要

我们报告了一名患有多核肌病的患者,这是一种罕见的肌病,麻醉学文献中此前未见报道。其特征为近端肌肉的肌病,病情往往呈良性,但可能与一种严重形式的心肌病相关。这种肌病与中央轴空病有关,因此这些患者应被视为有发生恶性高热的可能性。使该病例复杂化的是一种相关的无汗型外胚层发育不良,导致不出汗、发热发作、反复肺部感染、圆锥形牙齿和缺牙、皮肤鳞屑以及毛发纤细稀疏。该患者接受了脊柱侧弯修复手术,过程顺利,但术后三周在病房发生严重肺误吸后死亡。误吸的原因被认为是与外胚层发育不良相关的未被察觉的喉功能不全,肌病累及他的延髓肌以及止痛药物。

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