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首页> 外文期刊>BMC Pulmonary Medicine >Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome
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Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome

机译：患有电声巨口综合征的女性喉气管狭窄

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Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department. A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient’s return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber. To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.
机译：Ablepharon大口综合征（AMS）是一种罕见的先天性畸形疾病，由基因TWIST2中的常染色体显性突变引起。受此病影响的患者的外胚层结构异常，主要表现为主要的面部畸形特征，很少出现内脏异常。唯一报告的喉气管缺损是软化症，与任何解剖狭窄无关。我们描述了一名女性喉气管狭窄的独特病例，目前在我们部门进行了基因确认的AMS。一名37岁的白人妇女因重度呼吸困难而被加护病房，需要进行气管插管，然后进行气管切开术。支气管镜检查发现气管组织在环状环和前三个气管环处异常，气道口径降低了80％（根据Cotton-Meyer分类为III级）。通过临时气管切开术和皮质类固醇激素疗法治疗狭窄，可恢复气道通畅性，并使患者恢复正常活动。四个月和五个月的支气管​​镜检查显示异常组织消失，并且残留的解剖性喉气管狭窄约占正常气道口径的20％（根据Cotton-Meyer分类为I级）。据我们所知，这是首例受AMS影响的喉气管狭窄患者。

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