Roa Rojas Pablo, Arango Fernández Hernán, Rebolledo Cobos Martha, Harris Ricardo Jonathan
Servicio de Cirugía Oral y Maxilofacial, Fundación Hospital Universitario Metropolitano. Barranquilla, Colombia.
Departamento de Cirugía Oral, Universidad Metropolitana. Laboratorio de Genética Molecular, Universidad Simón Bolívar. Barranquilla, Colombia.
Arch Argent Pediatr. 2018 Apr 1;116(2):e341-e345. doi: 10.5546/aap.2018.e341.
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia. It was performed an anterior tongue reduction surgery as a surgical treatment with favorable results.
贝克威思-维德曼综合征是一种罕见的先天性疾病,其特征包括巨舌症、腹壁缺损、半身肥大、脐膨出、新生儿低血糖、脐疝、肝肿大、心脏异常等。90%的病例会出现巨舌症,导致咀嚼、吞咽、发声和呼吸问题,进而导致上呼吸道阻塞。首选的治疗方法是部分舌切除术。我们介绍了一名2个月大的患有贝克威思-维德曼综合征且因严重巨舌症导致区域阻塞的儿科患者;在病史中,有先天性心脏病、房间隔缺损、动脉导管未闭、症状性癫痫、肾衰竭、低血糖、气管切开术和胃造口术,原因是气道塌陷和吞咽困难。作为手术治疗进行了前舌缩小手术,效果良好。