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Alstrom syndrome: A rare genetic disorder and its anaesthetic significance

机译:Alstrom综合征:一种罕见的遗传性疾病及其麻醉意义

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摘要

Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac to the musculoskeletal system, among many others. It exposes the patient to various risks ranging from pulmonary aspiration and increased cardiac morbidity to separational anxiety, and may necessitate postoperative elective ventilation. We hereby present the successful management of one such diagnosed case in a 12-year-old boy, who presented to us for incision and drainage of an abscess present over the nape of his neck, along with foreign body removal from his right ear.
机译:Alstrom综合征是一种罕见的常染色体隐性遗传疾病,由Carl Henry Alstrom于1959年首次描述,其特征是涉及多器官系统,包括眼,听觉,内分泌,肝肾,胃肠道,呼吸道和心脏到肌肉骨骼系统等。它使患者面临各种风险,从肺部吸入和心脏疾病的增加到分离性焦虑症,可能需要术后选择性通气。我们特此介绍一个成功诊断为12岁男孩的病例,该男孩向我们提出要切开和引流颈项上的脓肿,并从右耳清除异物。

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