Acute respiratory distress for late-presenting congenital diaphragmatic hernia

Abstract

Congenital diaphragmatic hernia (CDH) presents a wide spectrum of anatomical variants and clinical pictures depending on the topography and dimensions of the diaphragmatic defect and on the patient age. Most CDH cases acutely present with tachypnea, cyanosis, and respiratory failure within the first minutes to hours of life. Despite significant advances in neonatal medicine, this congenital anomaly still presents a high mortality rate, especially for associated malformations. On the other hand, there is a rare subset of CDH patients who present outside the neonatal period. The most common symptoms of late-presenting CDH include recurrent pulmonary infections, dyspnea, wheezing, abdominal pain, failure to thrive, vomiting, diarrhea and anorexia. Although late-presenting CDH generally presents good prognosis after early surgical correction, misdiagnosis is quite frequent because of its wide spectrum of clinical manifestations. The following case report describes a six-month-old infant presenting with acute respiratory distress and vomiting caused by late-presenting left-sided CDH.