Congenital diaphragmatic eventration in children: 12years' experience with 177 cases in a single institution

Bilateral congenital eventration of diaphragm: keep in mind, the other side

“…The condition is twice more common in men and nine times more frequent on left side when compared with right 1. In a study done in a single Chinese tertiary centre, out of 177 patients diagnosis of CDE was made by 3 months in only 40% of cases, 33% were diagnosed between 3 months to 1 year and 23% were seen in 1–18 years 6. CDE was unilateral in 176 cases and bilateral in only one case 6.…”

“…The most common manifestations involve respiratory and gastrointestinal systems leading to cyanosis, dyspnoea, acute respiratory distress, cardiac symptoms (due to mediastinal displacement), anorexia, nausea, vomiting. Unilateral CDE can have reduced vital capacity and total lung capacity, recurrent respiratory tract infections 6. Bilateral CDE reduces lung functions even more, especially in supine position 12.…”

“…Surgical approach can be either open thoracotomy or minimally invasive video-assisted thoracic surgery. One centre advocated repair of left eventration through an abdominal approach and repair of right eventration through thoracic approach 6. Abdominal approach for repair on left side, in adults, may allow examination of both domes of diaphragm and other gastrointestinal abnormalities 14.…”

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing

“…A different amino acid change in the same position, p.Arg234Pro, has been identified in a patient with syndromic intellectual disability without any diaphragmatic anomaly . PBX1 has very recently been associated with diaphragm eventration, a mild form of diaphragmatic defect characterized by diaphragmatic thinning and weakness with and abnormal and dysplastic diaphragmatic muscle . Similarly, homozygous Pbx1 deletion causes CDH with an abnormal muscle patterning and an abnormal Pax3 , Myod1 , and Myog expression in mice …”

Congenital diaphragmatic hernia has a better prognosis when associated with a hernia sac

“…The exclusion criteria were fetal death in utero, medical termination of pregnancy, associated congenital anomaly, and abnormal karyotype or CGH array. Also excluded were children who at surgery were diagnosed with diaphragmatic eventration, which is an abnormally high or elevated position of 1 leaf of the diaphragm as a result of paralysis or atrophy of varying degrees of the muscle fibers . Fetuses with a fetal tracheal occlusion during pregnancy were also included.…”