Cellular Origin(s) of Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a structural birth defect characterized by a diaphragmatic defect, lung hypoplasia and structural vascular defects. In spite of recent developments, the pathogenesis of CDH is still poorly understood. CDH is a complex congenital disorder with multifactorial etiology consisting of genetic, cellular and mechanical factors. This review explores the cellular origin of CDH pathogenesis in the diaphragm and lungs and describes recent developments in basic and translational CDH research.

A case of Bochdalek hernia with anomalous hepatic lobe heterotopia-case report

Background Bochdalek hernia is the most common type of congenital diaphragmatic hernia (CDH) resulting from postero-lateral diaphragmatic defect. Hepatic heterotopia is very rarely associated with CDH, and hepatic herniation favors the worst prognosis. Case presentation We present a case of a neonate diagnosed with right Bochdalek hernia (BH) with anomalous hepatic lobe heterotopia. Intra operatively, mal-rotated loops were also found to be herniating in the right hemithorax. The mal-rotated loops were reduced back into abdomen after performing Ladd’s procedure and diaphragmatic defect was repaired over the anomalous liver lobe. Baby was discharged on 7th postoperative day and follow-ups showed good recovery. Conclusion This case report discusses the presentation, classification, and significance of this association. Our case report is noteworthy as Bochdalek hernia is very rarely associated with anomalous hepatic lobe.

Right-sided Bochdalek hernia in an adult with hepatic malformation and intestinal malrotation

Background Bochdalek hernia is a common congenital diaphragmatic defect that usually manifests with cardiopulmonary insufficiency in neonates. It is very rare in adults, and symptomatic cases are mostly left-sided. Diaphragmatic defects generally warrant immediate surgical intervention to reduce the risk of incarceration or strangulation of the displaced viscera. Case presentation A 47-year-old woman presented with dyspnea on exertion. Computed tomography revealed that a large part of the intestinal loop with superior mesenteric vessels and the right kidney were displaced into the right thoracic cavity. Preoperative three-dimensional (3D) simulation software visualized detailed anatomy of displaced viscera and the precise location and size of the diaphragmatic defect. She underwent elective surgery after concomitant pulmonary hypertension was stabilized preoperatively. The laparotomic approach was adopted. Malformation of the liver and the presence of intestinal malrotation were confirmed during the operation. The distal part of the duodenum, jejunum, ileum, colon, and right kidney were reduced into the abdominal cavity consecutively. A large-sized oval defect was closed with monofilament polypropylene mesh. No complications occurred postoperatively. Conclusion Symptomatic right-sided Bochdalek hernia in adults is exceedingly rare and is frequently accompanied by various visceral anomalies. Accurate diagnosis and appropriate surgical repair are crucial to prevent possible incarceration or strangulation. The preoperative 3D simulation provided comprehensive information on anatomy and concomitant anomalies and helped surgeons plan the operation meticulously and perform procedures safely.

Fortuitous Discovery of a Bochdalek Hernia in an Adult

Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It is due to a defect in the posterior attachment of the diaphragm muscle, subsequent to a failure of pleuroperitoneal membrane closure in utero. Bochdalek hernia is often asymptomatic in adults, hence, it is fortuitously discovered as an incidental finding on CT scan. Alternatively, it may be diagnosed only after complications occur, such as empyema, cardiac tamponade and gastrointestinal strangulation. CT usually demonstrates a fatty mass above the diaphragm (Figure 1: arrow), which may be associated with other organs entrapment. Coronal and sagittal reformatted images show the diaphragmatic defect (Figure 2: arrows).

P52 Feasibility of “The Defect Study”: Neonatal diaphragmatic defect measurement and repair techniques in Congenital Diaphragmatic Hernia

Introduction Defect size and closure technique in neonates with congenital diaphragmatic hernia (CDH) has long term consequences for morbidity in survivors. Although subjective operative reporting of defect size has been standardised, objective evaluation is lacking. There is no reported optimum closure technique related to size and position of diaphragmatic defect. We aimed to objectively describe diaphragmatic defects and repair methods at the time of neonatal CDH repair. Methods A national, three centre cohort feasibility study was undertaken over a 4-month period. Data collection was registered as service evaluation at participating centres. All surviving neonates with CDH undergoing defect closure were eligible. Anonymised data were collected using a RedCAP database. Data collection variables (n = 47) included both antenatal and postnatal measures. Data were checked for normality and reported as mean±SD or median (IQR). Results 12 neonates were eligible for inclusion, 10 (83%) were included. Observed/Expected Lung Head Ratio (%) was reported in 5 cases (45±8), neonates were term, male (60%), birth weight (3.3±0.5kg). 80% of patients had a laparotomy, 80% had a left-sided defect, 60% a patch repair with PTFE and 60% graded defect size C. Poorly reported variables included pre-operative oxygenation and defect size was measured in 30%. Discussion Data collection through RedCAP was feasible and most variables were documented. Simplifying the intraoperative data collection form and providing clear instructions for taking measurements may improve reporting. A further pilot study with these modifications and improving engagement through advertisement, emails and online presence is intended to optimize the study before roll-out.

Catamenial pneumothorax with partial liver herniation due to diaphragmatic laceration: a case report and literature review

Background Catamenial pneumothorax is generally uncommon, with an incidence of less than 3–6% in women with spontaneous pneumothorax. As few cases of catamenial pneumothorax with diaphragmatic defect and liver herniation have been reported, this case report may be useful for understanding the cause and treatment. This case highlights the importance of the approach for liver hernia in patients with catamenial pneumothorax and endometriosis. Case presentation We report a case of catamenial pneumothorax in a 43-year-old woman with diaphragmatic partial liver hernia who was treated with thoracoscopic surgery. She was diagnosed with a right pneumothorax at menstruation onset. Chest computed tomography showed a nodule protruding above the right diaphragm. We performed thoracoscopic surgery to treat the persistent air leak and biopsied the nodule on the right diaphragm. There were blueberry spots on the diaphragm; the nodule was found to be the herniated liver. The diaphragmatic defect was sutured. Histological examination of the tissue near the partial prolapsed liver revealed endometrial tissue. Conclusions It is speculated that ectopic endometrial tissue in the diaphragm will periodically necrose to become a diaphragmatic tear, which is a pathway for air to enter the thoracic cavity and eventually a herniated liver. Thoracoscopic surgery should be considered in patients with catamenial pneumothorax when a diaphragmatic lesion is suspected.

Extralobar pulmonary sequestrations hiding congenital diaphragmatic defects: A case series

Background: Association between pulmonary sequestration and diaphragmatic hernia is well known. Extralobar sequestrations are masses of the non-functioning lung, surrounded by separate pleura, without bronchial communication, and with a systemic arterial blood supply. They may be placed in the thorax, within the diaphragm, or rarely in a sub-diaphragmatic position. Case Series: We present three cases of extra-lobar extra-thoracic pulmonary sequestrations associated with different types of diaphragmatic defects. In none of the three cases, the diaphragmatic defect was detected prenatally. Conclusion: Pulmonary sequestration may be involved in the embryological origin of the diaphragmatic defect. Simultaneously, it acts as an anatomical barrier and prevents the herniation of the abdominal content into the thorax. If extralobar pulmonary sequestration is diagnosed prenatally, a coexistent diaphragmatic hernia should always be considered.