Late‐presenting congenital diaphragmatic hernia in childhood

Aim: To characterize the clinical manifestations of late‐presenting diaphragmatic hernia and its associated anomalies, diagnostic methods and outcomes. Methods: The records of patients aged 1 month–18 years old diagnosed with Bochdalek diaphragmatic hernia from February 1987–June 2008 were reviewed. Results: Fifteen children (nine boys, six girls) met inclusion criteria. Median age was 1.5 years (range, 38 days–9.9 years). Eleven (73%) had left‐sided and four (27%) had right‐sided diaphragmatic hernias. Six (40%) patients presented with respiratory symptoms, six (40%) with gastrointestinal symptoms and three (20%) with both. Five (33%) patients had failure to thrive. Six (40%) were diagnosed by chest radiography alone. The others required gastrointestinal contrast series, or chest computed tomography to confirm the diagnosis. One referred patient had been misdiagnosed as having left pneumothorax. Cases of bowel malrotation and gastric volvulus associated with the hernia were found in one patient each. One patient required mechanical ventilation because of respiratory failure before surgery. Primary repair without patch was performed in all patients. The overall survival in this series was 100%. Conclusion: Late‐presenting diaphragmatic hernia should be suspected in cases of unexplained acute or chronic respiratory or gastrointestinal symptoms, and abnormal chest radiographic findings. The prognosis is favourable with correct diagnosis and prompt surgical repair.     

Late-presenting congenital diaphragmatic hernia in children: a clinical spectrum

Articles dealing with late-presenting congenital diaphragmatic hernia (CDH) in children published until 2003 were collectively reviewed. The main purpose of the presented study was to gain insight into the clinical spectrum of this variant of CDH and to discuss its clinical and surgical aspects. In 125 articles, 362 patients were reported. Left posterolateral hernia was the dominant anatomical type, found in 79.4% of the children. Male-to-female distribution was nearly 2:1 in both right- and left-sided CDH. Associated anomalies were noted in 8.6% of children. Sixty-five percent of children with right CDH presented within the 1st year of life, whereas only 41.7% of patients with left CDH belonged to this age group. The children with right CDH presented with chronic symptoms in 57.4% of cases, while among those with left CDH, acute presentation prevailed, constituting 60.5% of this group. No strict correlation between age and clinical symptoms was noted, although the youngest patients tended to present with respiratory symptoms. Late-presenting diaphragmatic hernia is associated with a wide range of clinical symptoms occurring in various constellations. Dyspnea and vomiting were the most frequent symptoms found in patients with either chronic or acute manifestation. Preoperative mortality was 3.9% (14 children). In 45 children (12.4%), complications resulting from diaphragmatic hernia were noted, and in a further 11 children iatrogenic preoperative complications were noted. Among 152 children with reported CDH, true hernia with sac was found in 32.7%. Eight children (2.2%) died in the early postoperative period, while a further 13 patients (3.6%) had postoperative complications requiring surgical management. Recurrence of hernia was noted in seven children (1.9%). This collective review of basic epidemiological and clinical data from a large group of patients seems to support a hypothesis for a congenital nature of the diaphragmatic defect and an acquired nature of herniation of the viscera. The wide clinical spectrum of late-presenting CDH seems to be conditioned by two factors: timing of herniation and type of intraabdominal viscera displaced into the chest.     

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.     

An unusual late presentation of a congenital diaphragmatic hernia

An unusual and late-presenting case of left Bochdalek diaphragmatic hernia is presented to highlight the fact that the timing and mechanism of presentation of the hernia remains obscure. In this case there were two previous admissions, initially for a left upper lobe lobectomy for congenital lobar emphysema and a subsequent admission for bronchiolitis. He then presented at the age of nine months, with acute respiratory distress and was diagnosed to have a left diaphragmatic hernia. This is the first case of a late- presenting congenital diaphragmatic hernia reported in association with a previous ipsilateral lobectomy for congenital lobar emphysema. A brief review of late -presenting congenital diaphragmatic hernias is given and an alternative theory is proposed for the mechanism of late presentation.     

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.     

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.     

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 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: 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 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.     

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.     

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.     

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.     

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: 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.     

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.     

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.     

Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn

The occurrence of coexisting congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with distal tracheoesophageal fistula (TEF) is extremely rare and is considered highly lethal. The combination of CDH with EA/TEF and truncus arteriosus communis (TAC) has not been reported in the literature to date. The authors describe a premature neonate with this association.