Abstract

Introduction: Advances in prenatal imaging studies have allowed early diagnosis of Congenital Diaphragmatic Hernia (CDH), although neonatal mortality remains at high levels (60% survival). Despite advances, this study found delayed diagnosis, demonstrating subdiagnosis, possibly caused by lack of resources and/or prenatal diagnostic failure. Case Report 1: Infant, 4 months and 22 days old, dyspneic, cyanotic, with fever and vomiting for 3 days, treated as pneumonia. After the second chest radiography, a right CDH was revealed. Surgical correction was performed and removal of Meckel’s diverticulum was surgical findings. The patient was discharged on the 10th days after admission. Case Report 2: Infant, 11 months and 3 days old, distended abdomen, with fever and dyspnea for 2 days, treated as pneumonia. After the second chest radiography, a left CDH was revealed. The patient was submitted to surgery, intestinal loop incarceration without necrosis was observed, and the correction of CDH was performed. The patient was discharged on the 7th day after admission. Discussion: Three cases, between July 2012 and July 2013, were diagnosed at Dom Malam Hospital; 2 Cases of CDH, with delayed diagnosis, showed incidence of 66.66%. Delayed diagnosis of these patients with initial hypotheses of pneumonia demonstrated high risk, emphasizing the importance of diagnosis research through observation of the clinical course, the correct imaging interpretation, in order to establish early diagnosis and treatment.

Highlights

  • Advances in prenatal imaging studies have allowed early diagnosis of Congenital Diaphragmatic Hernia (CDH), neonatal mortality remains at high levels (60% survival)

  • The CDH affects approximately 1 in every 2000 - 5000 live births [2] [3] and it is a major cause of neonatal mortality and morbidity, and despite the advances in therapeutic, such as high frequency ventilation, nitric oxide and extracorporeal membrane oxygenation (ECMO), and improvement in surgical management of CDH, the rate of mortality remains high [4]

  • Despite the advanced diagnostic and therapeutic resources available, this study found that patients with delayed diagnosis, which showed the existence of subdiagnosis, were possibly caused by lack of resources in some hospitals and failure in prenatal diagnosis

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Summary

Introduction

Congenital Diaphragmatic Hernia (CDH) consists of a defect in the diaphragm embryonic formation, due to the not closure of pleura peritoneal channels, resulting in a large opening (foramen of Bochdalek) in the posterolateral region of the diaphragm which makes the peritoneal and pleural cavities continuous. Advances in prenatal imaging studies have allowed earlier diagnosis and improved estimates of the severity and prognosis before birth, according to lung volume assessment criteria, with diagnostic reference by ultrasound in the 15th week of gestation [1]. Despite the advanced diagnostic and therapeutic resources available, this study found that patients with delayed diagnosis, which showed the existence of subdiagnosis, were possibly caused by lack of resources in some hospitals and failure in prenatal diagnosis. The objective of this study was to analyze the evolution and prognosis of two cases of Congenital Diaphragmatic Hernia, delayed diagnoses in Dom Malan Hospital during the period

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