Related Experiment Video
Updated: Aug 6, 2026
06:31
Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
Congenital diaphragmatic hernia: two case studies with atypical presentations
1Saskatoon District Health, Royal University Hospital, Canada. barbara.puckett@saskatoonhealthregion.ca
Neonatal Network : NN
|August 18, 2006
Summary
Congenital diaphragmatic hernia (CDH) is a birth defect affecting 1 in 2,000-4,000 infants, often causing severe respiratory distress. This article explores atypical CDH cases, focusing on management and family impact.
Area of Science:
- Pediatric Surgery
- Neonatology
- Medical Genetics
Background:
- Congenital diaphragmatic hernia (CDH) is a serious birth defect impacting 1 in 2,000 to 4,000 live births.
- Antenatal diagnosis via ultrasound is common, with most newborns requiring immediate intubation due to severe respiratory distress.
- Pulmonary hypoplasia leading to persistent pulmonary hypertension of the newborn (PPHN) significantly affects infant survival.
Observation:
- This article details two congenital diaphragmatic hernia cases with atypical presentations.
- Subtle clinical manifestations and associated anomalies are discussed.
- Embryology and pathophysiology of CDH are reviewed.
Findings:
- Infant survival in CDH is critically dependent on the severity of pulmonary hypoplasia.
- Advanced medical interventions including high-frequency ventilation, inhaled nitric oxide, and extracorporeal membrane oxygenation are often necessary.
- Atypical presentations can complicate diagnosis and management.
Implications:
- Understanding atypical CDH presentations is crucial for timely diagnosis and intervention.
- Comprehensive management strategies are essential for improving outcomes in affected infants.
- Addressing the clinical and psychosocial impact on families is a vital component of care.
Related Concept Videos
01:25Hiatal Hernia
A hiatal hernia is the abnormal protrusion of the stomach or other abdominal organs through the esophageal hiatus of the diaphragm into the thoracic cavity.Normally, the gastroesophageal junction (GEJ) lies below the diaphragm and is supported by the phrenoesophageal membrane, the diaphragmatic crura, and connective tissues. Weakening of these structures—due to aging, congenital defects like a short esophagus, or increased intra-abdominal pressure from coughing, obesity, pregnancy, or heavy...
01:28Esophageal Perforation-II: Clinical Manifestations and Management
Esophageal perforations manifest in various clinical forms, influenced by factors such as the perforation's cause and location (cervical, intrathoracic, or intra-abdominal), the extent of contamination, and potential injury to adjacent mediastinal structures. The timing between the perforation occurrence and treatment initiation also affects the clinical presentation.
Clinical Manifestations:
Clinical Manifestations:
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
01:07Intestinal Obstruction II: Pathophysiology
Intestinal obstruction triggers a series of physiological responses, starting with gas and fluid accumulation in the bowel segment proximal to the obstruction, leading to distension. This distended intestine compresses the diaphragm, hindering lung expansion and potentially leading to reduced respiratory effort, atelectasis, and pneumonia.To overcome the blockage, the gut intensifies contractions, causing colicky abdominal pain, nausea, and vomiting, which reduces fluid and food intake and...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...