Department of Thoracic Surgery, Scientific Institute and University Vita-Salute San Raffaele, Ospedale San Raffaele, Via Olgettina 60, 20132, Milan, Italy.
BMC Pulm Med. 2019 Aug 28;19(1):163. doi: 10.1186/s12890-019-0921-8.
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.
眼距过宽口裂过大综合征（AMS）是一种罕见的先天性畸形疾病，由 TWIST2 基因的常染色体显性突变引起。受该病影响的患者表现出外胚层衍生结构的异常，主要由主要面部畸形特征组成，很少有内脏异常。唯一报道的喉气管缺陷是软化，没有提到任何解剖学狭窄。我们描述了一名女性独特的喉气管狭窄病例，该病例经基因证实为 AMS，目前在我们科室接受治疗。
一名 37 岁的白人女性因急性呼吸困难入住重症监护病房，需要经口气管插管，随后进行气管切开术。支气管镜检查显示环状软骨和第一三个气管环水平的气管组织异常，使气道口径缩小了 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治疗狭窄，恢复了气道通畅，使患者恢复了正常活动。4 个月和 5 个月的支气管镜检查显示异常组织消失，残留的解剖学喉气管狭窄约为正常气道口径的 20%（根据 Cotton-Meyer 分类为 I 级）。
据我们所知，这是首例患有 AMS 并出现喉气管狭窄的患者。
