“Acquired” congenital diaphragmatic hernia

“Acquired” congenital diaphragmatic hernia (ACDH), has been defined as delayed or late appearance of a congenital diaphragmatic hernia after a documented time period of postnatal life with no evidence of herniation. Three new cases are presented. This diagnosis has been characterized on the basis of a review of these cases and 14 additional patients from the literature. A classification based upon timing of herniation and state of pulmonary development is presented.     

Late-presenting congenital diaphragmatic hernia

Background

Late-presenting congenital diaphragmatic hernia (CDH) is a rare subset of CDH, most of the information derived from small series or case reports. The aim of this study was to document the clinical manifestations of late-presenting CDH using a large multicenter database.

Methods

Information about late-presenting CDH (diagnosed at later than 30 days of age) was identified from the database of the CDH Study Group (3098 cases collected during 1995-2004) and reviewed retrospectively.

Results

Seventy-nine cases (2.6%) from 30 centers met the inclusion criteria. Seven cases had a Morgagni hernia. There were 50 males (65%) and 27 females (35%). The mean age at diagnosis was 372 days (32 days to 15 years). Major associated anomalies (10 cardiac and 7 chromosomal abnormalities) were identified in 12 cases (15%). Presenting symptoms were respiratory in 20 (43%), gastrointestinal in 15 (33%), both in 6 (13%), and none (asymptomatic) in 5 (11%). The hernia was left-sided in 53 (69%), right-sided in 21 (27%), and central or bilateral in 3 (4%). Patients with gastrointestinal symptoms invariably had left-sided hernias (n = 19), whereas patients with respiratory symptoms (n = 24) seemed equally likely to have right- or left-sided lesions. A primary repair without patch was done in all cases with 100% survival.

Conclusions

Presenting symptoms of late-onset CDH can be respiratory or gastrointestinal, but presentation with gastrointestinal problems was more common in left-sided hernias, whereas respiratory symptoms predominated in right-sided lesions. The prognosis is excellent once the correct diagnosis is made.     

腹腔镜小儿先天性膈疝修补术

目的探讨腹腔镜小儿先天性膈疝修补术的疗效。方法2002年6月-2005年12月，我们对11例小儿先天性膈疝（3例新生儿年龄3—24h，余8例2—24个月）施行三孔或四孔腹腔镜手术。还纳疝内容物，丝线缝合膈肌修补缺损。结果10例手术修补成功。1例新生儿腹腔镜手术后3d膈疝复发，再次腹腔镜手术修补成功。手术时间55—180min，平均100min，术中出血量1—2ml。术后1—2d开始进食。11例随访9—24个月，平均16个月，X线检查膈肌位置正常。结论腹腔镜小儿先天性膈疝修补术安全可靠，创伤小，可清晰显露术野，术中还可探查有无腹部其他先天性畸形。     

Nitrovasodilator responses in pulmonary arterioles from rats with nitrofen-induced congenital diaphragmatic hernia

Background/Purpose

Many infants with congenital diaphragmatic hernias (CDHs) experience persistent pulmonary hypertension that is refractory to treatment with inhaled nitric oxide (NO). We have examined the responses of isolated pulmonary arterioles from prenatal and postnatal rats with and without nitrofen (2,4-dichlorophenyl-p-nitrophenyl ether)-induced CDH to a variety of activators of the NO-cyclic guanosine monophosphate (cGMP) pathway.

Methods

Right-sided CDH was induced in fetal rats by feeding nitrofen to pregnant rats on day 12 of gestation. Control rats were fed olive oil (vehicle). Third-generation pulmonary arterioles were isolated from the right lung of prenatal rats at term and from newborn rats within 8 hours after birth. Responses to increasing concentrations of sodium nitroprusside (SNP), atrial natriuretic peptide, or 8-bromo-cGMP were measured in pulmonary arterioles from control rats and from rats with nitrofen-induced CDH. Postnatal responses to 8-bromo-cGMP were also recorded in the presence of zaprinast, a type V phosphodiesterase inhibitor.

Results

Pulmonary arterioles from prenatal rats did not dilate in response to SNP, atrial natriuretic peptide, or 8-bromo-cGMP. Vasodilatory responses of postnatal pulmonary arterioles from control rats to SNP and 8-bromo-cGMP were significantly greater than for arterioles from rats with CDH. Zaprinast pretreatment resulted in similar responses for postnatal CDH and control arterioles to 8-bromo-cGMP.

Conclusions

Postnatal pulmonary arterioles from CDH rats exhibit altered nitrovasodilator responsiveness, which may be due to rapid degradation of cGMP.     

Kidney development in the nitrofen-induced pulmonary hypoplasia and congenital diaphragmatic hernia in rats

Background/Purpose

The relationship of the developing lung and kidney is not completely understood. Renal enlargement has been reported in association with pulmonary hypoplasia in congenital diaphragmatic hernia (CDH). Recent studies suggest that retinoids may be involved in the pathogenesis of CDH. The aims of this study were to investigate the effects of pulmonary hypoplasia on renal development and to evaluate retinoids status of kidneys in the nitrofen model of CDH.

Methods

Pregnant rats were exposed to either olive oil or 100 mg of nitrofen on day 9.5 of gestation. Fetuses were recovered at term and divided into 3 groups: 1, control (n = 69); 2, nitrofen without CDH (n = 25); and 3, nitrofen with CDH (n = 40). Kidneys were dissected, weighed, and processed for biochemical measurements of DNA, proteins, total retinol content, and for immunohistochemical staining of proliferating cells.

Results

Kidneys were smaller in nitrofen-exposed animals vs control animals (group 3, 0.65 ± 0.08; group 2, 0.62 ± 0.09 vs group 1, 0.73 ± 0.09% of body weight, P < .001), and there were no differences between right and left kidney weight in all the 3 groups. Regression of total kidney weight on body weight showed a linear direct correlation between them in all the groups. Total amount of DNA was significantly reduced in nitrofen-exposed animals vs controls (group 3, 80.58 ± 35.65; group 2, 64.71 ± 20.28 vs group 1, 110.34 ± 42.15 μg, P < .01), but the DNA concentration remained the same in the 3 groups (group 3, 3.59 ± 1.26; group 2, 3.06 ± 1.19; group 1, 3.43 ± 1.05 μg DNA/mg kidney). Total protein content (group 3, 1145.59 ± 500.36; group 2, 993.2 ± 276.62; group 1, 1287.48 ± 312.52 μg), protein concentration (group 3, 49.76 ± 11.12; group 2, 43.95 ± 6.79; group 1, 47.38 ± 6.93 μg protein/mg kidney), and protein-to-DNA ratio (group 3, 15.12 ± 5.98; group 2, 16.22 ± 6.85; group I, 16.16 ± 7.02 μg/μg) were similar in all groups. Retinol concentration was significantly reduced in both nitrofen-exposed groups compared with the control group (group 3, 1.35 ± 0.24; group 2, 1.28 ± 0.11; group 1, 2.53±0.61 μg retinol/g kidney). Proliferation index was similar in all 3 groups (group 3, 50.43 ± 8.81; group 2, 47.96 ± 6.01; group 1, 47.64 ± 5.76% of proliferating cells).

Conclusions

Our data clearly show that renal enlargement in association with pulmonary hypoplasia is not seen in the nitrofen-induced CDH. These results rule out any possible relationship between lung and kidney development. Moreover, kidneys are hypoplastic in both nitrofen-exposed groups and have reduced retinol content, suggesting that a retinoid pathway disruption could be the common mechanism in the pathogenesis of lung and kidney hypoplasia in the nitrofen model of CDH.     

Chylothorax after congenital diaphragmatic hernia repair

Purpose

Chylothorax after congenital diaphragmatic hernia (CDH) repair contributes significantly to morbidity. Our aim was to identify factors contributing to chylothorax and effective treatment strategies.

Methods

We reviewed 171 patients with CDH from 1997 to 2008 and analyzed hernia characteristics, extracorporeal membrane oxygenation (ECMO) use, operative details, and treatment approaches for chylothorax.

Results

Ten (7%) patients developed chylothorax; all were left sided. Using univariate analysis, prenatal diagnosis, ECMO use, and patch repair were associated with development of chylothorax. Logistic regression analysis showed that patch repair was the only variable predictive of chylothorax (P = .028; confidence interval, 0.032-0.823). Although survival was not affected, patients with chylothorax had a significant increase in ventilator days and length of stay (t = 3.57; P = .000; t = 2.74; P = .007). All received thoracostomy and total parenteral nutrition. Six patients received octreotide, 5 of whom required pleurectomy because of failed medical management; the remaining patient died of overwhelming sepsis.

Conclusions

The incidence of chylothorax at our institution was relatively low. Patch repair was associated with the formation of chylothorax. Morbidity was substantial, but survival was not significantly affected. Total parenteral nutrition and thoracostomy were appropriate initial treatments. Octreotide was not an effective adjunct. Refractory cases were successfully treated with pleurectomy.     

Predicting perinatal outcome in isolated congenital diaphragmatic hernia using fetal pulmonary artery diameters

Objective

The aim of the study was to evaluate the potential of fetal pulmonary artery (PA) diameters to predict perinatal death and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH).

Study Design

In this prospective observational study, observed PA (main, right, and left) diameters were measured at the level of the 3 vessels in 21 fetuses with isolated CDH and in 85 controls at 22 to 36 weeks. The observed/expected (o/e) diameters of the main, contralateral, and ipsilateral PAs were calculated by comparing these measurements with reference values obtained in our previous study and correlated with perinatal death and postnatal PAH.

Results

The o/e PA diameters were significantly reduced in fetuses with CDH compared to controls (P < .001) and in fetuses with CDH who died (P < .050). However, there was no significant association between PA diameters and PAH (P ≥ .050).

Conclusions

The PA diameters might be useful to predict perinatal death in isolated CDH but not postnatal PAH, suggesting that PA diameters are probably related to the severity of pulmonary hypoplasia.     

Octreotide for chylous effusions in congenital diaphragmatic hernia

Background/Purpose

Chylothorax is a frequent complication in congenital diaphragmatic hernia (CDH) infants and is associated with significant morbidity. The optimal treatment strategy remains unclear. We hypothesize that octreotide decreases chylous effusions in infants with CDH.

Methods

This is a retrospective study of all infants with CDH admitted to our institution from October 2006 to October 2011.

Results

Eleven (12%) infants developed a chylothorax. Five infants were managed conservatively with thoracostomy and total parenteral nutrition. Six infants were started on octreotide therapy. None of the infants required surgical intervention to stop the effusion. There was no significant difference in survival to discharge, length of stay, or average daily chest tube output between groups. There appeared to be a temporally associated drop in chest tube output upon initiation of octreotide in two infants; however, the overall rate of decline in chest tube drainage was unchanged. In addition, there were infants in the conservative group who demonstrated a similar drop in daily chest tube output despite the absence of octreotide.

Conclusions

Our data suggest that the majority of chylous effusions in CDH infants resolve with conservative therapy alone.     

In utero incarceration of congenital diaphragmatic hernia

In utero diagnosis of incarcerated congenital diaphragmatic hernia has never been reported. In our case, congenital diaphragmatic hernia presented at 34 weeks of gestation with dilated bowel loops, pleural effusion, and ascites on fetal ultrasound. Preterm delivery and emergency exploration revealed a tight posterolateral diaphragmatic defect with extensive bowel infarction.     

Mortality prediction in congenital diaphragmatic hernia

Background

A validated risk stratification tool for congenital diaphragmatic hernia (CDH) is required for accurate outcomes analyses. Existing mortality-predictive models include those of the CDH Study Group (CDHSG) based on birth weight and 5-minute Apgar score, the Canadian Neonatal Network (CNN) based on gestational age and admission score in Score for Neonatal Acute Physiology version II, and the Wilford Hall/Santa Rosa clinical prediction formula (WHSR_PF) derived from blood gas measurements. The purpose of this study was to evaluate the calibration and discrimination of these predictive models using the Canadian Pediatric Surgical Network dataset.

Methods

Neonatal risk variables and birth hospital survivorship were collected prospectively in 11 perinatal centers, between May 2005 and October 2006. Actual vs predicted outcomes were analyzed for each equation to measure the calibration and discrimination of each model.

Results

Twenty (21.2%) of 94 infants with CDH died during birth hospitalization. The CDHSG model demonstrated superior discrimination (area under the receiver operator characteristic curve = 0.85; CNN = 0.79; WHSR_PF = 0.63). Model calibration reflected by the Hosmer-Lemeshow P value was poorest with the WHSR_PF = 0.37 and comparable between CDHSG and CNN (0.48 and 0.46, respectively).

Conclusion

Predictive outcome models are essential for risk-adjusted outcome analysis of CDH. The ideal predictive equation should prove robust across CDH datasets.     

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.     

Endobronchial migration of prosthetic patch after congenital diaphragmatic hernia repair

Surgical repair of congenital diaphragmatic hernia (CDH) can be performed by means of either direct suturing of the diaphragm or positioning of a prosthetic patch. However, half of all prosthetic patches show evidence of reherniation. We describe the case of an 8-year-old girl who presented with prosthesis dislocation and fistulization in the right lower bronchus as a complication of a CDH repair that she underwent when she was 1 year old. Abdominal ultrasound and magnetic resonance imaging suggested a hernia relapse, whereas chest computed tomographic scan failed to identify the diaphragmatic defect. Only fibrobronchoscopy allowed fistulization of the prosthesis into the bronchi to be correctly diagnosed.     

先天性膈疝的围手术期处理

目的探讨新生儿先天性膈疝(NCDH)的围手术期处理。方法对我院自1996—2003年救治20例NCDH进行回顾性分析。患儿是由本院新生儿重症监护(NICU)中心转运,转运前予气管插管保持呼吸通畅。然后进行急诊手术,术后持续用呼吸机支持。结果20例NCDH中有2例死亡,1例术后放弃治疗,17例存活出院。经6个月以上随访,临床和X线胸部检查均提示肺发育良好,心脏、纵隔正常。结论早期诊断和院前处理,适时行膈疝修补术及术后呼吸机支持,是提高NCDH治愈率的有效措施。     

Laparoscopic repair of congenital diaphragmatic hernia complicated with sliding hiatal hernia with reflux in adult

INTRODUCTIONCongenital diaphragmatic hernia (CDH) in adults is a relatively rare condition being asymptomatic in the majority of cases. Symptomatic CDH should prompt surgical management because they may lead to intestinal obstruction or severe pulmonary disease. This is the first reported case of a symptomatic CDH complicated with sliding hiatal hernia (SHH).PRESENTATION OF CASEA 65 years old women with reflux and dysphagia was complaining of postprandial paroxysmal dyspnea and epigastric pain radiating to her back. Upper endoscopy diagnosed sliding and para-esophageal diaphragmatic hernia with severe esophagitis. Computed tomography-scan revealed a large Bochdalek hernia at the left diaphragm.DISCUSSIONDiagnostic laparoscopy was decided, which confirmed the SHH, but also revealed a CDH defect at the tendonous part of the left diaphragm. The left bundle of the right crus was intact, separating the two hernia components (sliding and congenital). Extensive adhesiolysis was performed, dissecting and separating the stomach away from the diaphragm. Posterior cruroplasty at the esophageal hiatus was performed for the SHH with Nissen fundoplication as antireflux procedure. Primary continuous suture repair was performed for the CDH, reinforced with prosthetic mesh on top. Operative time was 150 min with no morbidity. The patient was discharged home uneventfully the third postoperative day. On 12-months follow-up, she reported no symptoms and improvement in quality of life.CONCLUSIONLaparoscopy is a unique method for a precise diagnosis of symptomatic congenital diaphragmatic hernia in adults being also a safe and viable technique for a successful repair at the same time. Experience of advanced laparoscopic surgery is required.     

The decreasing incidence of pneumothorax and improving survival of infants with congenital diaphragmatic hernia

In the 6-year period between 1977 and 1982 inclusive, 75 newborn infants with congenital diaphragmatic hernia of Bochdelek underwent corrective surgery during the first 24 hours of life. A total of 40 infants (53%) survived. Beginning in January 1980, a standardized approach to care including early use of mechanical ventilation and paralysis with pancuronium as well as dopamine use prior to any Priscoline infusion, was instituted. To determine whether these approaches improved outcome, term infants without malformations from the years 1977 to 1979 were compared with a similar group treated after institution of standardized care between 1980 and 1982 inclusive. The infants were comparable in all respects, but survival improved from 45% to 82% between the two periods (P less than 0.03). There was an associated decrease in the incidence of pneumothorax (45% in first period; 14% in second period) paralleled by a concomitant increase in pancuronium use (18% and 85%, respectively). Although factors responsible for the improved survival are multifactorial these data indicate the detrimental effect of pneumothorax on outcome and the beneficial effect of a standardized approach to care using conventional intensive care techniques.     

Right congenital diaphragmatic hernia: an 18-year experience

Background

Prenatal diagnosis and outcome of right congenital diaphragmatic hernia (RCDH) are far less well known than the more common left CDH (LCDH). In addition, onset of RCDH beyond the neonatal period with a spectrum of atypical symptoms is not unusual. A retrospective analysis of RCDH treated at a single center over 18 years has been reviewed with regard to outcome after the introduction of a new treatment protocol for CDH.

Methods

All charts of patients with CDH between 1987 and 2004 were reviewed. Twenty-nine patients with RCDH were identified. The patients were divided into 2 historical groups: group 1, from 1987 to 1998 (16 patients), and group 2, from 1999 to 2004 (13 patients). From 1999, at the Department of Pediatric Surgery of Padua, the management of a baby born with CDH has been standardized and includes planned delivery at term, high-frequency oscillatory ventilation since birth, inhaled nitric oxide if required, extracorporeal membrane oxygenation as a “last resort,” and delayed repair once the infant is hemodynamically stable. Patients with either prenatal diagnosis of RCDH or early onset of symptoms (<6 hours of life) were considered “high risk,” and those with late onset (>6 hours) were considered “low risk.”

Results

Of 29 patients, prenatal diagnosis was available in 8 (27.5%) and major associated malformations in 8 patients (27.5%). Eight (50%) of 16 cases from group 1 and 9 (69.2%) of 13 cases from group 2 were high-risk patients. There was a trend in favor of a higher survival among high-risk patients from group 2 (25% vs 44%), although this was not statistically significant. As expected, all low-risk patients survived (P = .0001). Plain thorax x-ray was diagnostic in 23 (82.1%) cases, initially normal in 3, not performed in 1, and misinterpreted as right lower lobe pneumonia in 2. At operation, the prosthetic patch was required in 2 (9%) of 22 cases and the peritoneal sac was found in 4 (13.7%).

Conclusions

(1) The rate of prenatal diagnosis of RCDH was low and remained stable throughout the examined period. (2) The introduction of a treatment protocol, using high-frequency oscillatory ventilation since birth, improved the survival of high-risk patients with RCDH, although the data did not reach statistical significance. (3) The majority (75%) of low-risk patients presented beyond the first week of life with a variety of aspecific gastrointestinal or respiratory symptoms that accounted for initial misdiagnosis. (4) Even in these cases, the outcome was excellent.