Bochdalek Type Research Articles

Case Report: Congenital diaphragmatic hernia in one twin followed by ex-utero intrapartum treatment (EXIT) procedure: Pearls & pitfalls

Cases of congenital diaphragmatic hernia (CDH) in one twin have been reported rarely. This study aimed to report a rare case while also analyzing the pearls and pitfalls in diagnosing and managing this case. A 32-year-old multiparous woman referred to a tertiary hospital with multiple pregnancies and suspected CDH on the 1st baby. The patient underwent further investigation and the first fetus had a severe CDH on the left side. The second fetus was in a transverse lie and no other abnormalities were found. The babies were delivered through caesarean section and the first baby underwent the ex-utero intrapartum treatment (EXIT) procedure without prior antepartum fetal therapy. A large defect measuring 7.5 x 6 centimeters on the left side (Bochdalek type) was found in the first baby during surgery to make repairs. The baby died the next day due to some complications from the previous repair. As a pearl of this case, prenatal diagnosis and multidisciplinary approach hold pivotal roles. In prenatal imaging, CDH is distinguished by the visualization of thorax filled with abdominal contents and the mediastinal shifting from the defect to the contralateral side. EXIT procedures could be performed after the baby with CDH is delivered and the infant will still require post-natal surgical repair and its success rate depends on many factors. In conclusion, proper prenatal diagnosis with ultrasound evaluation from the second trimester, close and regular maternal-fetal monitoring, prenatal intervention, intrapartum ultrasound guidance, and post-natal procedures are all critical.

Comparison of the Surgical Outcomes in Neonates with Left-sided Congenital Diaphragmatic Hernia with Only Skin Closure versus Abdominal Muscle Closure.

This study aims to compare the outcome of neonatal left congenital diaphragmatic hernia (CDH, Bochdalek type) repair through laparotomy with and without abdominal muscle closure. This retrospective study was conducted between January 2012 and May 2021 at a neonatal surgical unit of a Tertiary Care Center. Demographic details, preoperative management, Two-dimensional-echo, intra-operative findings, postoperative course, and follow-up data were collected and analyzed. The study group comprised 50 neonates with a mean standard deviation (SD) age at admission: 4.44 (5.12) days, male: female ratio of 3:2, and mean (SD) weight: 2.73 (0.51) kg. Following repair of the diaphragmatic defect through laparotomy, 26 (52%) underwent skin closure alone, whereas 24 (48%) underwent abdominal muscle closure. Postoperatively, there was a significant fall in the level of platelets (P = 0.021), increase in pressure support by at least 4-5 cm H2O (P = 0.027), and increase in the blood urea (P < 0.001), creatinine (P = 0.005), lactate (P = 0.019), and acidosis (P = 0.048) in the muscle closure group. Although not statistically significant, there was a fall in the urine output and blood pressure in this group. There was no significant difference in the duration of inotropes. Mortality was 8 (32%) in the skin closure group, and 14 (61%) in the muscle closure group (P = 0.05). Neonates undergoing left CDH repair through the abdominal route with skin closure alone, had better survival, as well as hematological, renal, and ventilatory parameters than those who underwent muscle closure. It is a useful surgical modification to improve outcome in centers with limited facilities.

Late presentation Bochdalek hernia complicated by mesentero-axial volvulus

A 5 year old with a history of recurrent chest infections and presumed asthma presented to the emergency department with acute severe abdominal pain, tachycardia and pallor. Chest radiograph done to exclude pneumoperitoneum demonstrated a large gas filled structure occupying the majority of the left hemithorax. This was superimposed with several tubular gas filled structures. CT showed a large left-sided diaphragmatic hernia of the Bochdalek type containing the pancreas, stomach, small bowel loops, small bowel mesentery with vessels and lymph nodes and some large bowel. Associated left pulmonary hypoplasia was present. In addition, the stomach was significantly dilated with an ‘upside down’ configuration. It’s antrum and pylorus were above the diaphragm and gastro-oesophageal junction while its fundus and proximal body were below the diaphragm, appearances in keeping with mesentero-axial volvulus, necessitating urgent surgical management.

Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome

Kagami-Ogata syndrome (KOS) is a rare genomic imprinting disorder of chromosome 14 with characteristic facial features, a small, bell-shaped thorax, muscular hypotonia, and abdominal wall defects. We present a case of a kidney incarcerated in a posterolateral Bochdalek type congenital diaphragmatic hernia (CDH), intestinal malrotation and stage 2 rectocele in KOS. Successful repair of CDH and malrotation was achieved with Ladd's procedure, CDH repair, Nissen fundoplication and gastrostomy tube placement. She had no post-operative complications and is currently tolerating 100% enteral feeds. CDH, intestinal malrotation and rectocele have not been previously reported in KOS. Despite overall poor prognosis, KOS patients with CDH and malrotation can be repaired successfully with improvement in quality of life.

The management of Bochdalek congenital diaphragmatic hernia: a single center experience and review of the literature

Objectives: Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly of the diaphragm with pulmonary hypoplasia and persistent pulmonary hypertension and has serious consequences. Despite recent diagnosis and treatment strategies, CDH is still a challenging condition. We aim to present our clinical experiences of CDH, and review of the literature. Methods: Data of CDH patients who were operated in our clinic between January 2010 and September 2018 were obtained from the patient's chart. The clinical course and results of the patients with Bochdalek type CDH were reviewed. Results: We performed diaphragmatic closure in 16 patients with Bochdalek CDH during study period. Fourteen (82%) cases were diagnosed antenatally. In 5 (29%) patients, preoperative pulmonary hypertension developed and nitric oxide was administered. Twelve of the sixteen patients (75%) underwent primary repair and 4 of them underwent prosthetic patch. Three patients were repaired thoracoscopically. Five (31%) patients died due to severe persistent pulmonary hypertension on postoperative period. There was no recurrence in our patients who were followed-up for a mean of 27 months. Conclusion: In the management of Bochdalek CDH, the clinical success has been increasing in parallel with the important developments with the application of new treatment modalities in the neonatal intensive care units and new surgical techniques in recent years.

Congenital diaphragmatic eventration and hernia sac compared to CDH with true defects: a retrospective cohort study

Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this retrospective analysis. Demographics, CDH-characteristics, treatment, and clinical outcome were evaluated. In total, 200 patients were included. Patients with an eventration or hernia sac had no significant differences and were compared as patients without a true defect to patients with a true defect. The 1-year survival of patients with a true defect was significantly lower than patients with no true defect (76% versus 97%, p = 0.001). CDH with no true defect had significantly better short-term outcomes than CDH with true defect requiring patch repair. However, at 30 days, they more often required oxygen supplementation (46% versus 26%, p = 0.03) and had a higher recurrence rate (8% versus 0%, p = 0.006) (three eventration and two hernia sac patients). Conclusion: Patients without a true defect seem to have a more similar clinical outcome than CDH patients with a true defect, with a better survival. However, the recurrence rate and duration of oxygen supplementation at 30 days are higher than CDH patients with a true defect.What is Known:• Congenital diaphragmatic hernia with or without hernia sac and congenital diaphragmatic eventration (incomplete muscularization) are often treated similarly.• Patients with hernia sac and eventration are thought to have a relatively good outcome, but exact numbers are not described.What is New:• Congenital diaphragmatic eventration and patients with hernia sac seem to have a more similar clinical outcome than Bochdalek type CDH with a true defect.• Patients without a true defect (eventration or hernia sac) have a high recurrence rate.

2710 Asymptomatic Bochdalek Hernia in an Adult Male: A Rare Entity

INTRODUCTION: Bochdalek hernias (BH) are a type of congenital diaphragmatic hernia that mostly present in children. The diagnosis of a Bochdalek hernia in an adult patient is extremely rare accounting for an estimated 0.17% to 6% of all diaphragmatic hernias. Here we present a case of an asymptomatic Bochdalek hernia in adult patient. CASE DESCRIPTION/METHODS: Patient is a 51 year old female with a medical history of mental retardation, diabetes mellitus type 2, who was referred to our gastroenterology clinic for chronic constipation and abdominal mass. Per the patients nursing aid, on prior exam an abdominal mass was palpated on routine physical exam. On presentation to our clinic her physical exam was unremarkable. Recent complete blood count and comprehensive metabolic panel were within normal limits. Given these findings a computed tomography scan of the abdomen was done. This was done and showed no masses within the gastrointestinal tract, but was remarkable for a moderate sized left bochdalek type hernia with associated herniation of the third and fourth portions of the duodenum and the splenic flexure of the colon, without CT evidence of incarceration. On return visit, the patients nursing aid and family were notified of the findings, but refused surgical intervention for possible correction. She remained asymptomatic on follow up visits and the family continued to refuse treatment. DISCUSSION: Bochdalek hernias (BH) result are a rare congenital anomaly that results from a persistent pleuroperitoneal that occurs due to failure of the postero-lateral foramina to fuse. This allows contents of the abdomen to herniate into the thorax. Symptoms of BH depend on location. Right sided BHs may present with herniation of the liver and intestine. Left sided BHs may present with herniation of the stomach, small intestine and colon. Diagnosis of BH in adults can be challenging as symptoms are non-specific (mild abdominal pain) and up to 25% of patients are asymptomatic. Diagnosis of BHs in adults can be accomplished through imaging modalities such as computed tomography, magnetic resonance imaging, and fluoroscopy. The treatment of choice for BH is surgical repair. This should be considered in asymptomatic patients as well, given the potential for strangulation of the herniated contents.

Duodenal Stenosis with Diaphragmatic Hernia—A Rare Combination—Delayed Diagnoses with Barium Study

AbstractDuodenal stenosis is part of a spectrum of disorders due to non-cannulization of the fetal gut lumen occurring in 11 to 13 weeks of fetal life. The diagnosis is often made in the neonatal period owing to bilious vomiting. The authors present a case of a 9-year-old boy who was diagnosed by an upper gastrointestinal study that showed a hugely dilated stomach filled with food residue and a dilated first part of the duodenum with an abrupt narrowing in the second part of the duodenum in keeping with duodenal stenosis. There was no associated malrotation (a known association), but the delayed images showed a surprising finding of herniation of large bowel loops into the thorax suggestive of a congenital diaphragmatic hernia (Bochdalek type). Both these findings were confirmed on surgery, and the patient underwent duodenoduodenostomy and diaphragmatic hernia repair and is doing well on follow-up. This case is unusual due to the rare association of duodenal stenosis with congenital diaphragmatic hernia and delayed diagnosis. Both these pathologies most often present in the neonatal period, and delayed diagnosis is most often seen with associated trisomy 21 that was not the case in our patient.

Bochdalek Hernia in Asymptomatic Adults: A Case Report of Radiological Importance

Congenital Diaphragmatic Hernias (CDH) is a rare entity with incidence of 1:3000 live births. Late presentation is unusual and in most cases is diagnosed in adolescents or early childhood. Asymptomatic diaphragmatic hernia in the absence of trauma is very rare in adults. The finding of CDH in adults is mostly incidental. Left sided hernia i.e. Bochdalek hernia is more common. It is more commonly associated with other anomalies. The morbidity and mortality are mainly due to pulmonary hypoplasia. We report a case of CDH, posterolateral defect (Bochdalek type), with mild mediastinal shifting to right side in a young lady, who was asymptomatic throughout the life and referred to us for evaluation of incidental findings of chest X-ray abnormality who was suffering from cholelithiasis. The surgical approach for the resolution of this pathology is variable and it depends on the presence and severity of visceral complications.J Bangladesh Coll Phys Surg 2018; 36(4): 175-178

Delayed Presentation of Congenital Diaphragmatic Hernia as Heart Failure

Congenital diaphragmatic hernia (CDH) is rare congenital condition that primarily presents in infants. Bochdalek hernia is the most common of them. Late presentation is unusual, and in most cases is diagnosed in adolescents or early adulthood. Morgagni hernia is the one that usually presents late in adults. The finding of CDH in adults is mostly incidental. We report a case of CDH, posterolateral (Bochdalek type), with left lung hypoplasia, in a 60 year old female, who primarily presented with sudden shortness of breath.

High recurrence rate in thoracoscopic repair of Bochdalek type congenital diaphragmatic hernia

Background: This study aims to determine the possible causes of high recurrence in thoracoscopic repair of congenital diaphragmatic hernia. Methods: Medical records of 14 children (8 boys, 6 girls; mean estimated gestational age of 38.2 weeks; range 36 to 40 weeks) who underwent thoracoscopic repair of Bochdalek type congenital diaphragmatic hernia in our clinic between August 2006 and August 2010 were retrospectively analyzed. Data including demographic characteristics, intraoperative details and respiratory status of the patients were reviewed in terms of recurrence. Results: Only one patient died due to pulmonary hypertension. The mean follow-up was four years (range, 3 to 7 years). Recurrence was seen in five patients. No significant difference in the parameters evaluated was found between the groups. Conclusion: Because of the high recurrence rate after thoracoscopic repair of the congenital diaphragmatic hernia, care must be taken to select the low risk patient for recurrence.

Congenital diaphragmatic hernia in identical twins

Congenital diaphragmatic hernia (CDH, Bochdalek type) is rarely seen in both members of identical twins. Herein, we report a 37 weeks’ twins with CDH along with a brief review of the literature. Both the neonates survived.

Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: Results of a case‐control study

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and congenital diaphragmatic hernia (CDH) are severe congenital anomalies. Their etiologies are mostly unknown and are thought to be multifactorial. No specific environmental factors have consistently been described as risk factors. In a study conducted during the years 2000 to 2004 in a pediatric surgical referral center in the Netherlands, parents of children with EA/TEF or with CDH of the Bochdalek type and parents of a group of children without major birth defects filled out a questionnaire about possible exposure to environmental risk factors during the period from 1 month before conception to the end of the first trimester of pregnancy. Children with chromosomal anomalies were excluded. Questionnaires were returned for 47 out of 64 cases (73%) with EA/TEF, for 63 out of 77 cases (82%) with CDH, and for 202 out of 243 controls (83%). In EA/TEF, maternal age was borderline significantly higher than in controls (32.2 vs. 30.6 years, p = .05). Contact with herbicides or insecticides was associated with EA/TEF in univariate analysis (OR 2.0; 95% CI: 1.0-4.1) and in multivariate analysis, although of borderline significance. In univariate analysis, CDH was significantly associated with maternal use of alcohol (OR 2.9; 95% CI: 1.6-5.2). We found a significant association between maternal alcohol use around the time of conception and CDH. A possible explanation might be the effect of alcohol on the retinoic acid pathway. An association was found between contact with herbicides or insecticides and EA/TEF.

Toevallige bevinding van congenitale hernia diaphragmatica (CHD) bij een patiëntje met bronchiolitis

A bilateral congenital hernia diaphragmatica of Morgagni A thorax radiography in order to evaluate a pulmonary problem of a six-month-old child revealed a congenital hernia diaphragmatica (CHD) (Morgagni) and incited us to investigate the embyrology and anatomy of the diaphragm as the starting point of possible therapeutical strategies. The pathofysiology exerted a central role in this assay. Pulmonary hypertension and lung hypoplasia are essential elements for determining the prognosis. A CHD is seen with a frequency of 1/2500 births. The posterolateral type (Bochdalek) is by far the most common (90% of the cases). In the hereby reported case we were confronted with a bilateral hernia of the anterolateral type (Morgagni). Diagnosis of a CHD of the Bochdalek type occurs more frequently antenatally. The development of minimally invasive techniques also during intra-uterine life, remains a challenge for the future.

The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula, and lung hypoplasia

Two severe birth defects, congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), have traditionally been analyzed separately in epidemiological studies. Lung hypoplasia (LH), part of the CDH spectrum, is not usually associated with EA/TEF, yet both are foregut malformations. We conducted an epidemiological study of two combinations of the defects in the population of 3,318,966 live births and stillbirths monitored from 1983 to 1996 by the California Birth Defects Monitoring Program (CBDMP). A total of 433 cases had a Bochdalek type CDH/LH (0.13 per 1000 births), 893 had EA/TEF (0.27 per 1000 births), and 646 had LH (0.19 per 1000 births). Among them, 18 cases had CDH/LH with EA/TEF (0.005 per 1000 births), and 53 had EA/TEF and LH (0.02 per 1000 births); both prevalences are significantly higher than expected. Sixteen of 17 cases of CDH/LH with EA/TEF, and 34 of 40 cases of EA/TEF with LH were stillborn or died; 72% and 74%, respectively, had an autopsy. The male to female sex ratios were 1.43 and 1.13, respectively. In both groups, infants had similar proportions of additional severe defects, except for genitourinary and anal defects and syndromes/associations, which were more prevalent in the EA/TEF with LH group. We reviewed human studies and experimental animal models for factors reported to cause any combination of the defects. Several genetic and environmental factors could affect the significant co-occurrence of the defects. Future studies should include storage of patients' biological materials for DNA analysis, karyotyping, and environmental exposure evaluation.

Associated malformations in delayed presentation of congenital diaphragmatic hernia

Background/Purpose Delayed presentation of congenital diaphragmatic hernia (CDH) has been considered rare, and clinical manifestations differ from the more common newborn entity. Associated malformations in late-appearing CDH have been reported in a few patients. The authors reviewed their clinical experience to catalogue the frequency and clinical importance of associated malformations in patients with late-presenting CDH. Methods The records of patients greater than 1 month of age with Bochdalek type CDH treated in the authors’ clinic, from 1991 to 2001, were retrospectively reviewed. Twenty patients (age range, 1 month to 10 years) were included in the study. Results Associated malformations were documented in 16 of the patients (80%) and included malrotation in 12 patients, umbilical hernia in 2, pulmonary hypoplasia in 4, pulmonary sequestration in 1, gastroesophageal duplication cyst coexisting with polysplenia in 1, atrial septal defect and ventricular septal defect in 1, hydronephrosis in 1, wandering spleen in 1, talipes equinovarus in 1, and type I diabetes mellitus in 1. Conclusions The results of this study show a significant incidence and a wide spectrum of associated malformations. These findings suggest that patients with late CDH should be evaluated carefully for additional anomalies that may help to establish correct diagnosis and treatment.

Laparoscopic Repair of Bochdalek Hernia in an Adult

Diaphragmatic hernias of the Bochdalek type are rare in adults. The diagnosis may be made with radiography of the chest in an asymptomatic person or in a person with respiratory and/or gastrointestinal symptoms. It has been mistaken for pleural effusion, empyema, lung cysts, and pneumothorax. A 38-year-old woman presented with epigastric pain and a persistent cough of 2 months' duration. A chest radiograph showed bowel loops in the left side of the chest. On laparoscopy, two defects, measuring 10 and 4 cm, respectively, were seen in the left hemidiaphragm. The herniated fundus of the stomach was reduced and the defect repaired with Gore-Tex mesh (W. L. Gore & Associates, Inc., Flagstaff, AZ, U.S.A.). The patient had an uneventful recovery. Laparoscopic repair of the rare Bochdalek hernia is feasible.

Congenital diaphragmatic hernia: the neonatologist's perspective.

1. Krisa Van Meurs, MD* 2. Billie Lou Short, MD† 1. 2. *Associate Professor of Pediatrics, Stanford University School of Medicine, Palo Alto, CA. 3. 4. †Professor of Pediatrics, George Washington University School of Medicine, Washington, DC. After completing this article, readers should be able to: 1. Delineate the studies used for prenatal diagnosis of congenital diaphragmatic hernia (CDH). 2. Describe prenatal therapies currently being investigated for the treatment of CDH. 3. Delineate the options available for ventilation of the neonate who has CDH. 4. Describe the potential complications that can be experienced by surviving infants who have CDH. During the past 10 years, significant changes have occurred in the diagnosis and management of congenital diaphragmatic hernia (CDH). The unsuspected birth of an infant who has CDH, the emergency transfer to a center where a pediatric surgeon and neonatologist are available, and the rush to the operating room for repair are a memory. Today we frequently provide prenatal counseling to parents of fetuses who are diagnosed as having CDH in utero, and a myriad of antenatal and postnatal therapies are available. Yet, the quest for therapeutic approaches that will optimize survival for the severely affected infant continues. Several new therapies on the horizon offer promise for the future. Most diaphragmatic hernias are posterolateral defects of the Bochdalek type, although Morgagni and pars sternalis hernias do occur. The incidence of CDH ranges from 0.08 to 0.45 per 1,000 births. The explanation for this variation in incidence most likely is underdiagnosis related to early deaths among neonates who are severely affected. Eighty-five percent of defects are left-sided, 13% are right-sided, and 2% are bilateral. Most studies have found an equal representation of genders, although a 1.25 male-to-female ratio was reported in one large population-based study (see Torfs et al in Suggested Reading). The incidence of anomalies associated with CDH is 20% to 50%. This range is related to differences in both the definition of anomalies and in patient selection, with higher incidences reported in population-based studies (Table⇓). CDH can be seen …

Congenital Diaphragmatic Hernia

A case is reported in which a congenital posterolateral diaphragmatic hernia of the Bochdalek type was the cause of sudden unexpected death in a 22-month-old girl. This case shows that not all late-presenting diaphragmatic hernias have a favorable prognosis.

Iatrogenic gastroschisis decreases pulmonary hypoplasia in an ovine congenital diaphragmatic hernia model.

Pulmonary hypoplasia is a major problem in infants with congenital diaphragmatic hernia. Intrauterine reparative procedures are associated with a high complication rate. The development of less complex operations to reduce the degree of fetal lung hypoplasia may improve neonatal survival. Our objective was to investigate the effectiveness of an iatrogenic gastroschisis in reducing fetal pulmonary hypoplasia in a sheep model with an artificially created diaphragmatic hernia. A left-sided diaphragmatic hernia (Bochdalek type) was created at 75 days' gestation in an ovine fetal model during the pseudoglandular phase of lung development. At 110 days' gestational age, a left-sided gastroschisis was created by excising part of the lower abdominal wall and buttressing the opening with a rubber ring. The fetus remained in utero until 135 days' gestation, at which time it was sacrificed for autopsy. Histopathologic and morphometric studies were performed on the lungs. Ten animals had creation of a diaphragmatic hernia. Four underwent the second surgery to create a gastroschisis. One animal completed the entire protocol, 3 fetuses aborted after the second surgery. Autopsy confirmed effective decompression of the herniated abdominal contents from the chest into the amniotic cavity in all 4 cases. The lungs of the animal that completed the protocol were appropriately developed, while those fetuses that died soon after gastroschisis creation had severe pulmonary hypoplasia, mainly involving the left lung. Artificially induced diaphragmatic hernia, in the ovine fetus, causes severe pulmonary hypoplasia.(ABSTRACT TRUNCATED AT 250 WORDS)