Congenital diaphragmatic hernia in CHARGE syndrome

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings.     

Congenital diaphragmatic hernia presenting after the newborn period

Late-presenting congenital diaphragmatic hernia (CDH) is often difficult to diagnose and delay in treatment is common. Seven patients were operated beyond the newborn period for left-sided Bochdaleck hernia. Their age ranged from 1 month to 9 years. Six of them became symptomatic within the 1st year of life (1 week to 9 months of age). Either feeding difficulties or recurrent respiratory infections were initially present. In all of them chest X-rays were performed but delay in diagnosis ranged from 1 week to 5 years. All diaphragmatic defects could be closed by an abdominal approach without postoperative complications. Clinical symptoms disappeared postoperatively. In children with respiratory complaints or feeding difficulties one should be aware of late presenting CDH. A careful analysis of chest films and searching for connecting bowel segments passing through the diaphragmatic defect may help to avoid incorrect diagnosis and undesirable delay in treatment. Confusion with pneumonia or pneumothorax can be diminished by placing a feeding tube and instillation of contrast material. Ultrasound should be used supportively in all suspected diseases of the diaphragm.     

Congenital diaphragmatic hernia

Posterolateral congenital diaphragmatic hernia (Bochdalek's hernia, CDH) that presents in the neonatal period is often manifest as life-threatening respiratory distress due to mechanical compression of the cardiopulmonary system by herniated viscera. Most patients can be supported through surgical reduction and repair with standard neonatal techniques. Postoperatively, many develop severe, refractory persistent pulmonary hypertension of the newborn (PPHN) after a variable period of adequate oxygenation. Despite aggressive ventilatory and pharmacologic maneuvers, a significant number of these infants develop fatal hypoxia and acidosis. At our institution, extracorporeal membrane oxygenation (ECMO) has been used as a therapy of last resort in 12 moribund infants with PPHN and respiratory failure after repair of CDH. There were 7 survivors. All long-term survivors [6] were totally weaned from ventilatory support; all met the criteria for nonsurvival as defined by Bohn et al. [2]. Eight patients (4 survivors) had no PaO₂ greater than 100 torr postoperatively. ECMO can relieve the hypoxic and metabolic stimuli that aggravate pulmonary hypertension and provide cardiopulmonary support. It is the treatment of choice for infants who are deteriorating in the face of maximum conventional therapy after surgical correction. Lesions that were formerly denoted nonsurvivable can be effectively treated. It is urged that this therapy be used whenever necessary to sustain the life of an infant who has survived operation, regardless of whether the patient has demonstrated a honeymoon period, PaO₂ greater than 100 torr, or any other factor conventionally thought to delineate survivable from nonsurvivable lesions. Such practices may exclude patients with survivable lesions from life-saving therapy.     

Congenital diaphragmatic hernia and chromosomal abnormalities: report of a lethal association

Congenital diaphragmatic hernia carries a high mortality which is often the consequence of associated anomalies. A chromosomal abnormality of the long arm of chromosome 8 resulted in a fatal combination of anomalies associated with CDH.     

Congenital diaphragmatic hernia: the impact of embryological studies

In recent years, a substantial research effort within the specialty of pediatric surgery has been devoted to improving our knowledge of the natural history and pathophysiology of congenital diaphragmatic hernias (CDH) and pulmonary hypoplasia (PH). However, the embryological background has remained elusive because certain events of normal diaphragmatic development were still unclear and appropriate animal models were lacking. Most authors assume that delayed or inhibited closure of the diaphragm will result in a diaphragmatic defect that is wide enough to allow herniation of the gut into the fetal thoracic cavity. However, we feel that this assumption is not based on appropriate embryological observations. To clarify whether it was correct, we restudied the morphology of pleuroperitoneal openings in normal rat embryos. Shortly before, a model for CDH and PH had been established in rats using nitrofen (2,4-di-chloro-phenyl-p-nitrophenyl ether) as teratogen. We used this model in an attempt to answer the following questions: (1) When does the diaphragmatic defect appear? (2) Are the pleuroperitoneal canals the precursors of the diaphragmatic defect? (3) Why is the lung hypoplastic in babies and infants with CDH? In our study we made following observations: (1) The typical findings of CDH and PH cannot be explained by inhibited closure of the pleuroperitoneal “canals”. In normal development, the pleuroperitoneal openings are always too small to allow herniation of gut into the thoracic cavity. (2) The maldevelopment of the diaphragm starts rather early in the embryonic period (5th week). The lungs of CDH rats are significantly smaller than those of control rats at the end of the embryonic period (8th week). (3) The maldevelopment of the lungs in rats with CDH is “secondary” to the defect of the diaphragm. (4) The defect of the lungs is “structural” rather than “functional”. Complete spontaneous correction of these lung defects is unlikely even after fetal intervention. (5) The “fetal lamb model” does not completely mimic the full picture of CDH, because the onset of the defect lies clearly in the fetal period. We believe that our rat model is better. It is especially useful for describing the abnormal embryology of this lesion.     

Congenital diaphragmatic hernia in identical twins

The authors present a pair of identical twins with congenital diaphragmatic hernia (CDH) diagnosed prenatally, who underwent successful surgical repair. They were diagnosed as having CDH at 32 weeks' gestation and showed respiratory distress soon after cesarean section at 33 weeks' gestation. Both survived after scheduled perinatal management followed by surgery, for which the prenatal diagnosis of CDH was valuable. Accepted: 17 June 1999     

Congenital diaphragmatic hernia and retinoids: searching for an etiology

Congenital diaphragmatic hernia (CDH) is a major life-threatening cause of respiratory failure in the newborn. Recent data reveal the role of a retinoid-signaling pathway disruption in the pathogenesis of CDH. We describe the epidemiology and pathophysiology of human CDH, the metabolism of retinoids and the implications of retinoids in the development of the diaphragm and lung. Finally, we describe the existing evidence of a disruption of the retinoid-signaling pathway in CDH.     

Congenital left posterolateral diaphragmatic hernia with previously normal chest x-ray

Three patients who presented with left congenital posterolateral diaphragmatic hernia at the ages of six months, two years and six years and who had a normal chest x-ray earlier in life are reported. In two children the late onset of symptoms and previously normal radiographic appearance might be explained by the spleen acting as a plug in the diaphragmatic defect. A normal chest x-ray in early infancy does not exclude the diagnosis of congenital posterolateral diaphragmatic hernia.     

Congenital diaphragmatic hernia: an overview of the etiology and current management

Aim: To review provide an overview of the etiology and current strategies in the management of congenital diaphragmatic hernia (CDH).
Methods: We did a comprehensive review of research trends, evidence based studies and epidemiologic studies.
Results: CDH is a life-threatening pathology in infants, and a major cause of death due to the pulmonary hypoplasia and pulmonary hypertension. There is much research related to elucidating the etiology of CDH and developing management strategies to improve the outcomes in these infants.
Conclusion: An early diagnosis with increased understanding of this disease is a crucial factor for a timely approach to managing the critically ill infant, and to offer the potential for improved outcomes and substantial reductions in morbidity.     

Bilateral congenital diaphragmatic hernia

Bilateral congenital diaphragmatic hernia (CDH) is a rare condition, with the literature suggesting a bleak prognosis. We describe a case of bilateral CDH that, despite confirming the challenges of diagnosis, demonstrates that the condition can have a favourable outcome.     

允许性高碳酸血症在先天性重症膈疝中的作用

目的 探讨允许性高碳酸血症这一通气策略在先天性重症膈疝治疗中的意义.方法 回顾本院1985年1月到2007年5月的33例重症膈疝患儿,按通气方法分两个阶段,第一阶段14例,平均气道峰压PIP≥30cm H2O,尽可能保证较低二氧化碳分压(PaCO2)及较高的pH值.第二阶段19例,术前患儿采用允许性高碳酸血症的通气策略:控制PIP≤22cm H2O,保证导管前SaO2≥80%,PaCO2≤60mmHg,对导管后氧饱和度放宽标准,如果患儿导管前SaO2<80%或PaCO2>60mmHg,则应用高频通气,以出院患儿生存情况作为评价指标.结果 两个阶段患儿胎龄、体重、疾病的严重程度差异无统计学意义(P>0.05),第一阶段患儿生存率50%,第二阶段为84.2%;气道峰压,第二阶段较第一阶段明显降低,两者差异有统计学意义(P<0.05);第一阶段术前有2例发生气胸,术后患儿死亡,第二阶段则无类似气道损伤发生.延期手术/急诊手术组生存率为77.2%/65.4%(P>0.05).11例患儿进行了高频通气.8例患儿吸入NO,仅短时提高SaO2,但肺动脉高压未缓解.结论 允许性高碳酸血症配合低压高频通气可以明显减少医源性气道损伤,提高重症膈疝存活率.     

Congenital diaphragmatic hernia: new models,new ideas

An animal model for congenital diaphragmatic hernia following interference with the development of the primary lung bud by 2,4-dinitro-p-diphenylether (nitrofen) is described. It has been used for pathogenetic studies to evaluate the presence of pulmonary hypoplasia and a closing defect of the diaphragm. Functional studies revealed abnormal surfactant levels and differences in pressure/volume curves following birth and during artificial ventilation for 6 h together with a disturbed antioxidant enzyme response. This animal model opens up new ways of studying the effects of prenatal hormonal modulation (corticosteroids, thyrotrophin-releasing hormone) on lung development as a novel therapeutic modality.     

Familial bilateral congenital diaphragmatic hernia

Familial inheritance of congenital diaphragmatic hernia is uncommon. We report two siblings with identical bilateral diaphragmatic defects. Accepted: 17 April 1998     

Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis

This retrospective study reviews the medical records of 77 fetuses and babies with congenital diaphragmatic hernia (CDH) referred to two hospitals in Detroit from 1986 through 2000. The aims were to examine the effects on outcome of multiple variables, especially the type of CDH, associated anomalies, and ultrasound prognostic parameters. Ultrasound measurements of head (HC), chest (CC), and abdominal circumferences (AC) were obtained from videotapes. ANOVA and chi-square analysis were used to determine statistical significance between groups and proportions. Eighty-nine percent (65/73) of pregnancies resulted in live births, and 54% (35/65) of patients survived past 30 days. Liveborn patients with low APGAR scores were less likely to survive. Forty-three percent (30/70) had major associated anomalies, with cardiac anomalies constituting about 52% (33/64) of the major associated anomalies. Seventy percent of patients with isolated CDH survived versus 36% of patients with both CDH and cardiac anomalies. Sixty-seven percent (8/12) of fetuses antenatally diagnosed before 25 weeks of gestation survived past 30 days of birth. The survival rate of right-sided CDH with liver herniation was 80% (8/10), compared with 29% (4/14) for left-sided CDH with liver herniation (p=0.088). There was a significant linear relationship (r=0.603, p =0.029) between CC/AC and CC/HC among patients with CDH; survivors had higher CC/AC and CC/HC values than nonsurvivors. These results support the utility of CC/AC and CC/HC measurements and the presence of liver herniation as important prognostic factors that can be used in antenatal counseling and in planning clinical trials.     

Familial occurrence of congenital diaphragmatic hernia

Familial occurrence of congenital diaphragmatic hernia is rare. This is only the second case of parent-to-child inheritance and the first case of father-to-son inheritance. The available data point toward a multifactorial mode of genetic transmission.     

Congenital diaphragmatic hernia: review of the literature in reflection of unresolved dilemmas

Background:  Congenital diaphragmatic hernia (CDH) is a rare but clinically and scientifically challenging condition. The introduction of ultrasound has enabled early prenatal detection and consequently, hope of early therapeutic intervention.
Aim:  We undertook the task to review the recent developments in understanding the pathology of CDH as well as the history and current management strategies to aid perinatologists in consultations with parents of CDH-affected foetuses.
Study design:  A Medline search was undertaken of all reports and reviews published between 1980 and 2008 using MeSH search terms 'diaphragmatic hernia', 'congenital' and 'newborn'.
Results:  The true incidence of CDH is still difficult to estimate because of the high incidence of hidden mortality of CDH. Complete case ascertainment also poses difficulties in assessment of the impact of new therapeutic modalities on overall survival. Recent improvements in prenatal detection are a milestone in affording time for re-assessments and parental counselling. The true benefit of antenatal therapy is circumscribed and should be offered only in selected cases of isolated severe CDH as defined by existing guidelines. Postnatal intensive respiratory supportive therapy and innovative surgical techniques within specialized tertiary centres has had a major impact on survival of babies with CDH.
Conclusion:  The high survival of 'selected cases' that are live births and benefit from optimal care will be difficult to improve by antenatal interventions. The multidisciplinary approach to basic research and randomized clinical trials will further define the best approach to the foetus and neonate with CDH.     

Sex and congenital diaphragmatic hernia

Background and purpose: Human studies note sex reversal syndromes and sex difference(s) in the incidence of congenital diaphragmatic hernia (CDH). Epidemiology surveys record a higher incidence of CDH in females, whilst other reports cite a higher frequency in males. Nitrofen, a teratogen, produces experimental CDH. This agent is speculated to interfere with retinoid acid–steroid signalling pathways and may also be linked with sexual differentiation. This study was designed therefore to test the hypothesis that nitrofen may influence sexual phenotype and frequency of CDH. Methods: Time mated Sprague Dawley rats were dosed with nitrofen at day 9.5 to generate predominantly left sided CDH. Fetuses were delivered by caesarean section on days 20 or 21 of gestation (term=day 22). External genitalia were examined to define external genital phenotype. The abdominal cavity was opened and the genito-urinary system carefully examined. The internal genital organs were assigned a phenotype and findings correlated with external appearances. The diaphragm of each fetus was studied for the absence or presence of CDH and the laterality of defect recorded. Controls (non nitrofen fed) were used for all comparative analysis. Results: Control (n=600) and nitrofen exposed offspring (n=504) had equal frequencies of males and females. CDH occurred with similar incidence in male and female nitrofen treated pups. In all nitrofen exposed fetuses and normal controls, internal and external genitalia concorded without evidence of significant genital tract malformations or intersex states. Conclusions: Prenatal nitrofen exposure is not associated with significant gender differences (or prenatal loss) in the risk of CDH. Genital tract malformations do not appear to accompany CDH in the nitrofen model.     

Subcostal slide for diaphragmatic hernia repair

A technique of closing large congenital diaphragmatic hernial defects without significant tension is described. Suggested advantages are: the simplicity of the technique; minimising the adverse effects of surgical repair on lung compliance; maintenance of the dome shape of the diaphragm, thus sparing intra-abdominal volume; and improved cosmetic results in the long term.     

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a lethal human birth defect. Hypoplastic lung development is the leading contributor to its 30-50% mortality rate. Efforts to improve survival have focused on fetal surgery, advances in intensive care and elective delivery at specialist centres following in utero diagnosis. The impact of abnormal lung development on affected infants has stimulated research into the developmental biology of CDH. Traditionally lung hypoplasia has been viewed as a secondary consequence of in utero compression of the fetal lung. Experimental evidence is emerging for a primary defect in lung development in CDH. Culture systems are providing research tools for the study of lung hypoplasia and the investigation of the role of growth factors and signalling pathways. Similarities between the lungs of premature newborns and infants with CDH may indicate a role for antenatal corticosteroids. Further advances in postnatal therapy including permissive hypercapnia and liquid ventilation hold promise. Improvements in our basic scientific understanding of lung development may hold the key to future developments in CDH care.     

Acute mesenteroaxial gastric volvulus and congenital diaphragmatic hernia

The current report describes the case of an 11-year-old girl with Down syndrome who was admitted because of sudden abdominal pain and vomiting. Her symptoms were secondary to severe gastric volvulus associated with congenital diaphragmatic hernia.