ABSTRACT
BACKGROUND: Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly. CASE PRESENTATION: We present a rare case of congenital right-sided diaphragmatic eventration along with atrial septal defect, cleft palate, pneumonia, and undernutrition in a 3-month-old Asian and Afghan girl. The clinical features were observed in the third month of life, and the diagnosis of these anomalies was established by the patient's history, physical examination, chest X-ray, thoracic computed tomography, and echocardiography. Her condition was good after supportive treatment. Since the index case of diaphragmatic eventration was associated with congenital heart disease, cleft palate, and parental consanguinity, a genetic basis may have played an important role in the pathogenesis of this anomaly. CONCLUSION: Eventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.
Subject(s)
Atrial Fibrillation , Cleft Palate , Diaphragmatic Eventration , Heart Septal Defects, Atrial , Hernias, Diaphragmatic, Congenital , Female , Infant , Humans , Diaphragmatic Eventration/diagnostic imaging , Diaphragmatic Eventration/surgery , Cleft Palate/diagnostic imaging , Diaphragm/diagnostic imaging , Heart Septal Defects, Atrial/diagnostic imagingABSTRACT
Pulmonary aplasia is a very rare congenital anomaly identified by the absence of lung parenchyma or vessels. This malformation mostly accompanies other anomalies, and chest computed tomography (CT) is a useful diagnostic tool. We present a rare case of left lung aplasia with patent ductus arteriosus and neonatal sepsis in a term newborn baby who had respiratory distress. The clinical features were observed during the first week of life, and the diagnosis of these anomalies was established by clinical, laboratory, chest x-ray, thoracic CT and echocardiographic findings. After the management of neonatal sepsis and patent ductus arteriosus, he was discharged from the hospital in good condition. Since the index case of lung aplasia was associated with congenital heart disease and had strong parental consanguinity, a genetic basis may have been involved in the pathogenesis of pulmonary aplasia.
