Abe Yasuhiro, Hirade Tomohiro, Koike Daisuke, Matama Chihiro, Kato Fumihide
Department of Pediatrics, Shimane Prefectural Central Hospital, Shimane, Japan.
Department of Neonatology, Shimane Prefectural Central Hospital, Shimane, Japan.
Int J Pediatr Adolesc Med. 2022 Sep;9(3):182-184. doi: 10.1016/j.ijpam.2022.02.001. Epub 2022 Mar 10.
Laryngeal web is a rare congenital or acquired disease that results in airway stenosis. Depending on the severity of atresia, patients with laryngeal web show a wide variety of symptoms ranging from asymptomatic to life-threatening respiratory dysfunction that may require emergency tracheostomy immediately after birth. We report a neonatal case of laryngeal web with 22q11.2 deletion syndrome. Post-delivery, the infant showed dysphonia and had a ventricular septal defect with characteristic craniofacial features. The infant underwent an endoscopic incision of the web and cardiac surgery. Among patients with laryngeal web, 30% have 22q11.2 deletion syndrome. 22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome and the second most common chromosomal abnormality associated with congenital heart disease. Therefore, if an infant has laryngeal web with comorbidities such as congenital heart disease, 22q11.2 deletion syndrome should be considered in differential diagnosis.
喉蹼是一种罕见的先天性或后天性疾病，可导致气道狭窄。根据闭锁的严重程度，喉蹼患者表现出各种各样的症状，从无症状到危及生命的呼吸功能障碍，后者可能在出生后立即需要紧急气管切开术。我们报告一例患有22q11.2缺失综合征的新生儿喉蹼病例。分娩后，该婴儿出现声音嘶哑，并有室间隔缺损及特征性颅面特征。该婴儿接受了喉蹼内镜切开术和心脏手术。在喉蹼患者中，30%患有22q11.2缺失综合征。22q11.2缺失综合征是最常见的染色体微缺失综合征，也是与先天性心脏病相关的第二常见染色体异常。因此，如果婴儿患有喉蹼并伴有先天性心脏病等合并症，在鉴别诊断时应考虑22q11.2缺失综合征。
