Hosgor Munevver, Karaca Irfan, Karkiner Aytac, Ucan Basak, Temir Gunyuz, Erdag Gulsun, Fescekoglu Orhan
Department of Pediatric Surgery, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
J Pediatr Surg. 2004 Jul;39(7):1073-6. doi: 10.1016/j.jpedsurg.2004.03.050.
BACKGROUND/PURPOSE: Delayed presentation of congenital diaphragmatic hernia (CDH) has been considered rare, and clinical manifestations differ from the more common newborn entity. Associated malformations in late-appearing CDH have been reported in a few patients. The authors reviewed their clinical experience to catalogue the frequency and clinical importance of associated malformations in patients with late-presenting CDH.
The records of patients greater than 1 month of age with Bochdalek type CDH treated in the authors' clinic, from 1991 to 2001, were retrospectively reviewed. Twenty patients (age range, 1 month to 10 years) were included in the study.
Associated malformations were documented in 16 of the patients (80%) and included malrotation in 12 patients, umbilical hernia in 2, pulmonary hypoplasia in 4, pulmonary sequestration in 1, gastroesophageal duplication cyst coexisting with polysplenia in 1, atrial septal defect and ventricular septal defect in 1, hydronephrosis in 1, wandering spleen in 1, talipes equinovarus in 1, and type I diabetes mellitus in 1.
The results of this study show a significant incidence and a wide spectrum of associated malformations. These findings suggest that patients with late CDH should be evaluated carefully for additional anomalies that may help to establish correct diagnosis and treatment.
背景/目的：先天性膈疝（CDH）延迟就诊被认为较为罕见，其临床表现与更常见的新生儿病例有所不同。少数迟发性CDH患者中曾有相关畸形的报道。作者回顾了他们的临床经验，以梳理迟发性CDH患者相关畸形的发生率及临床重要性。
回顾性分析1991年至2001年在作者所在诊所接受治疗的年龄大于1个月的Bochdalek型CDH患者的病历。本研究纳入了20例患者（年龄范围为1个月至10岁）。
16例患者（80%）记录有相关畸形，包括12例肠旋转不良、2例脐疝、4例肺发育不全、1例肺隔离症、1例胃食管重复囊肿合并多脾畸形、1例房间隔缺损和室间隔缺损、1例肾积水、1例游走脾、1例马蹄内翻足以及1例I型糖尿病。
本研究结果显示相关畸形的发生率较高且种类繁多。这些发现表明，对于迟发性CDH患者，应仔细评估是否存在其他异常，这可能有助于确立正确的诊断和治疗方案。
