Bilateral diaphragmatic hernia

Bilateral congenital diaphragmatic hernias are extremely rare; only 12 cases have been reported in the literature. We report six further cases of this rare malformation. The condition is invariably fatal. Only 3 of the 18 cases have survived and these 3 had hernial sacs. Four of our six cases had major associated malformations. Offprint requests to: F. Rivilla     

Resolving cavitary pnemonia presenting as late-onset congenital diaphragmatic hernia

An unusual case of resolving left lower lobe pneumonia associated with pleural effusion is reported. The plain radiographs and chest CT were initially misinterpreted as showing a late-presenting congenital diaphragmatic hernia (CDH). This case illustrates that misleading radiologic assessments may occur in children with resolving pneumonia and that upper or lower gastrointestinal contrast studies should be a part of the diagnostic work-up of any case of suspected late-presenting CDH.     

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.     

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 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.     

Ultrasound diagnosis of delayed-onset congenital diaphragmatic hernia associated with group B streptococcal infection

Delayed presentation of right-sided congenital diaphragmatic hernia in association with neonatal group B streptococcal pneumonia is a recently recognized entity. Its diagnosis is based on characteristic yet nonspecific chest X-ray findings, frequently supplemented by a variety of other imaging techniques. We describe two cases in which the diagnosis was reached by ultrasound examination. In the presence of nonresolving neonatal streptococcal pneumonia with the radiographic appearance of a right pleural effusion or suggestion of an elevated right hemidiaphragm, a congenital diaphragmatic hernia should be suspected. In this context, ultrasound can provide early proof of hepatic herniation before gas-containing bowel loops are seen on the cest X-ray.This is publication number 87018 of the McGill University —Montreal Children's Hospital Research Institute, which supported, in part, this work. Offprint requests to: J.-M. Laberge     

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.     

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.     

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.     

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.     

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.     

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.     

The developmental anatomy of congenital diaphragmatic hernia

Uniform agreement on the mechanisms of closure of the pleuroperitoneal canals cannot be found in the literature. While many authors suggest that the pleuroperitoneal membrane has to join the transverse plate in order to close the canals, some suggest that the canal is crowded out by growth of the underlying organs. Scanning electron microscopic photographs presented in this paper show that closure happens in two layers: the internal canal is closed by liver and suprarenal gland and the external canal is closed at a membranous level. There is a striking difference in the shape of both canals. Up to now, the mechanisms of development of congenital diaphragmatic hernia are also unclear. We found six pathogenetic theories, most of these based on a pressure theory with subsequent secondary hypoplasia of the lung. Offprint requests to: D. Kluth     

The fetus with a diaphragmatic hernia

Prenatal diagnosis of congenital diaphragmatic hernia (CDH) is accurate; current techniques can detect lethal nonpulmonary anomalies and prevent diagnostic errors. Despite optimal conventional therapy, most fetuses with detectable CDH will die in the neonatal period (80% mortality). Polyhydramnios is both a common prenatal marker for CDH and a predictor of poor clinical outcome (only 11% survival). Surgical intervention before birth may be necessary to improve survival of the fetus with CDH and polyhydraminos.     

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     

Pneumothorax — an unusual delayed presentation of congenital posterolateral diaphragmatic hernia

Pneumothorax as a delayed presentation of congenital posterolateral diaphragmatic hernia has not been described before. A normal chest X-ray film in the neonatal period does not preclude the possibility of a later presentation of congenital posterolateral diaphragmatic hernia.Offprint requests to: E. J. Guiney     

Pulmonary vascular pathology in congenital diaphragmatic hernia

Initial pathologic examination of the lungs in infants who died with congenital diaphragmatic hernia (CDH) reveal a decrease in size and weight, with the ipsilateral lung being smaller and showing distorted distribution of segmental airways. These pathologic findings have led to an assumption that the high mortality seen following repair of a diaphragmatic hernia was due to pulmonary hypoplasia. In recent years, the abundant pathologic and physiologic data on lungs in CDH clearly emphasize the role played by the pulmonary vasculature in the survival of CDH. An exaggerated vasoconstrictive response of an abnormally hypertrophied pulmonary vascular bed leading to increased pulmonary vascular resistance appears to be the most important mechanism leading to the often fatal hypoxemia seen in these neonates.     

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.     

Is preoperative risk assessment of newborns with congenital diaphragmatic hernia possible by means of chest X-rays?

Congenital diaphragmatic hernia (CDH) of the newborn constitutes an emergency. The overall mortality exceeds 50%. Touloukian and Markowitz described a preoperative X-ray scoring system for predicting outcome following repair of CDH. We reviewed the preoperative X-ray of 33 newborns with CDH according to this system. All infants had to be operated within 24 h of age because of serious respiratory distress. Unlike Touloukian and Markowitz, we were not able to identify the survivors by this scoring system. A number of arguments are presented which may contribute to an explanation for this discrepancy. We conclude from our series and that of Touloukian and Markowitz that a preoperative pneumothorax and a diaphragmatic defect which cannot be closed primarily seem to constitute the only reliable unfavorable signs in emergency cases.Offprint requests to: R. van Dijk Azn     

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.