Congenital diaphragmatic hernia "occulta"

Area of Science:

• Pediatric Surgery
• Neonatal Medicine
• Medical Case Studies

Background:

• Congenital diaphragmatic hernia (CDH) typically manifests in neonates with respiratory distress, cyanosis, and dextrocardia.
• A significant subset of CDH cases may present beyond the neonatal period, often with atypical symptoms.
• Recognizing late presentations is crucial for timely diagnosis and intervention.

Purpose of the Study:

• To retrospectively analyze cases of congenital diaphragmatic hernia presenting after the neonatal period.
• To investigate the clinical characteristics, age at presentation, and symptoms of late-presenting CDH.
• To propose a nomenclature, Congenital Diaphragmatic Hernia "Occulta", to aid in the recognition of these cases.

Main Methods:

• Retrospective review of medical records for 10 patients with congenital diaphragmatic hernia diagnosed beyond the neonatal period.
• Detailed analysis of patient age, presenting symptoms, and clinical signs.
• All identified patients underwent surgical repair under general anesthesia.

Main Results:

• Ten out of twenty reviewed congenital diaphragmatic hernia cases presented beyond the neonatal period.
• The study focused on the specific age and symptom profiles of these late-presenting patients.
• Surgical repair was successfully performed on all patients.

Conclusions:

• Late presentation of congenital diaphragmatic hernia occurs with notable frequency.
• The proposed term, Congenital Diaphragmatic Hernia "Occulta", aims to improve clinician recognition of this entity.
• Increased awareness and consideration of CDH in older infants and children with relevant symptoms are warranted.