Congenital diaphragmatic hernia in childhood – diagnostic challenges

Abstract

Congenital diaphragmatic hernia (CDH) is the prolapse of some abdominal organs into the thoracic cavity through a pathological defect of the diaphragm, which is caused by a developmental disorder of the diaphragmatic muscles. The compression of the thoracic organs leads to their structural and functional injury. CDH can be diagnosed in different age groups, with a clinical presentation of diverse and nonspecific respiratory and gastrointestinal symptoms. There are asymptomatic cases too. Diagnostic imaging is sometimes negative or reveals nonspecific pathological findings, which could delay the diagnosis and hide risks of severe complications or a lethal outcome. We present three clinical cases of CDH. The first case is of a two-month-old boy with multiple malformation syndrome and early onset of CDH, presented by cough, dyspnea, feeding difficulties, and hypotrophy. The second case is about a twelve-year-old boy with late-onset CDH, who manifested frequent and prolonged acute respiratory infections. The third case presents a girl at the age of one year and five months with the sudden appearance of acute respiratory failure as a complication of asymptomatic CDH. The three clinical cases presented here, involving children of different age groups and presenting with various clinical manifestations of CDH, underscore the importance of timely diagnosis to prevent life-threatening complications and highlight the diagnostic challenges.