Congenital Diaphragmatic Eventration Research Articles

Congenital partial diaphragmatic eventration presenting with Chilaiditi’s sign: a case report

BackgroundChilaiditi’s sign is an incidental radiographic finding, associated with intestinal disposition located between liver and right diaphragm. It is considered as an acquired rather than a congenital condition and the prevalence ranges from 1.18% to 2.4% according to recent adult retrospective studies. The aspects of this rare entity with regards to a 7-month-old male initially misdiagnosed as diaphragmatic hernia is discussed.Case presentationA 4-month-old Caucasian male was misdiagnosed with a congenital diaphragmatic hernia owing to previous hospitalization with complaints of respiratory tract infection. On admission 3 months later, he was free of any signs and symptoms of intestinal obstruction or respiratory distress. Thorax computed tomography revealed Chilaiditi’s sign. A diagnostic laparoscopy was regarded necessary to evaluate the anatomical details. The most prominent finding was the lack of muscle fibers and almost transparent appearance of the medial aspect of the partially eventrated right hemidiaphragm. Owing to delicate anatomical presentation, diaphragmatic plication was considered hazardous. The patient is doing well and under follow-up.ConclusionsIt is obvious that Chilaiditi’s sign is not always a completely incidental finding of no consequence, and may indicate an underlying congenital diaphragmatic pathology, clearly defined by laparoscopic evaluation in this case.

Congenital Diaphragmatic Eventration: Should we Maintain Surgical Treatment? A Retrospective Multicentric Cohort Study

BackgroundThe aims of this study were to describe the characteristics of children with congenital diaphragmatic eventration (CDE) and compare the outcomes of surgical and conservative treatment of pediatric CDE in France. MethodsRetrospective study on cohort data conducted in 22 paediatric surgery departments, including patients less than 16 years of age diagnosed with CDE between 2010 and 2021. Patients with surgical or conservative treatment were compared. Results139 patients were included, with a median age of 8 [1–16] months. CDE occurred in boys in 68.3% and was right-sided in 66.7% of the cases. Indication for treatment depended essentially on respiratory symptoms and level of the diaphragmatic dome. The initial treatment was a surgical, with a diaphragmatic plication, in 87 cases (62%) and conservative, consisting of clinical follow-up in 52 children (38%). Of the latter, 25 children underwent surgery secondarily. Intra- and early post-operative complications occurred in 32 children (29%) and eventration recurrence in 8 children (7%). With a median follow-up of 28 months, the median level of diaphragmatic dome improved from the 6th to the 9th back rib, and the rate of respiratory symptoms decreased from 64% to 14% in the overall cohort of patients. ConclusionsDiaphragmatic plication is effective in symptomatic patients with a dome level above the 6th posterior rib, but is associated with a 29% complication rate and 7% of recurrence. ClinicalTrialsNCT04862494, April 28, 2021. Level of evidencelevel III treatment study.

Clinicodemographic profile and outcomes of congenital diaphragmatic hernia with sac: experience of a paediatric referral centre.

Congenital diaphragmatic hernia, in which viscera herniate into the thoracic cavity, is one of the common causes of onset of respiratory distress in neonates and children. Developmentally they may have a sac in rare cases. To analyse the clinical profile and the outcome of congenital diaphragmatic hernia with a sac in neonates and children in a paediatric referral centre. All surgically repaired patients with a congenital diaphragmatic hernia with sac, admitted and treated over a period of sixteen years from January 2005 to December 2021 in a tertiary care referral neonatal and paediatric centre, were included in this study. Forty-three children including neonates were analysed by their clinical characteristics, risk factors and mode of surgical interventions. Congenital diaphragmatic eventration and diaphragmatic hernial defects were excluded from this study. Forty-three study subjects were grouped into two groups for clinical and statistical analysis, based on their pre-operative and intra-operative findings as well their final diagnosis. Cases of left-sided congenial diaphragmatic hernia with sac (LCDHS) were included in group I (n = 30) and cases of right-sided congenital diaphragmatic hernia with sac (RCDHS) were included in group II (n = 13). Each group was further subclassified into A, B, C according to the age of presentation and side of the lesion in order to determine the prognosis in each subgroup. Level of evidence IV. Mere awareness and clinical suspicion of such a rare embryological defect - a congenital diaphragmatic hernia with sac - from the attending clinicians can improve the prognosis of affected babies, avoiding morbid consequences if referred early to a tertiary care paediatric and neonatal centre.

EP03.05: Prenatally diagnosed case of congenital diaphragmatic eventration: a case report

EP03.05: Prenatally diagnosed case of congenital diaphragmatic eventration: a case report

Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report

BackgroundCongenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly.Case presentationWe present a rare case of congenital right-sided diaphragmatic eventration along with atrial septal defect, cleft palate, pneumonia, and undernutrition in a 3-month-old Asian and Afghan girl. The clinical features were observed in the third month of life, and the diagnosis of these anomalies was established by the patient’s history, physical examination, chest X-ray, thoracic computed tomography, and echocardiography. Her condition was good after supportive treatment. Since the index case of diaphragmatic eventration was associated with congenital heart disease, cleft palate, and parental consanguinity, a genetic basis may have played an important role in the pathogenesis of this anomaly.ConclusionEventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.

Factors contributing to mortality in neonates with congenital diaphragmatic hernia and eventration.

Despite all the advances, the mortality rate of congenital diaphragmatic hernia (CDH) ranges from 30% to 60% for isolated CDH and as high as 89% when they are associated with additional structural or chromosomal anomalies. Hence, a study was conducted to evaluate the factors contributing to the mortality of neonates treated for CDH or the eventration of diaphragm. A retrospective study was conducted in the department of paediatric surgery at a tertiary centre. The neonates admitted with a diagnosis of CDH or eventration requiring surgery, between March 2013 and March 2021, were included in the study. A total of 123 neonates were included in the study. The variables, earlier median age at presentation (1 [1-23] vs. 3 [1-28]; P < 0.001; Mann-Whitney U-test), preterm birth (10/79 vs. 0/44; P = 0.01; Fischer's exact test), inborn (68/79 vs. 27/44; P = 0.002; Chi-square test), weight ≤2 kg (18/79 vs. 1/44; P = 0.003; Chi-square test), central cyanosis at presentation (21/79 vs. 1/44; P < 0.001; Chi-square test), antenatal detection (47/79 vs. 14/44; P = 0.003; Chi-square test) and earlier mean age at surgery (3.66 ± 1.47 vs. 7.66 ± 6.88; P < 0.001; Independent sample t-test) were associated with increased mortality. On multinominal logistic regression analysis, the factors preterm (odd's Ratio [OR] =4.735; P = 0.03), weight ≤2 kg (OR = 5.081; P = 0.02), central cyanosis at presentation (OR = 6.969; P = 0.008) and antenatal detection (OR = 7.471; P = 0.006) were found to be independently associated with increased mortality in CDH/eventration. The factors: prematurity, weight <2 kg, cyanosis at presentation and antenatal diagnosis were independently associated with increased mortality in neonates with CDH/eventration requiring surgery.

Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A

WT1 disorder is caused by a heterozygous variant in the gene WT1 (Wilms' tumor suppressor gene 1), and is clinically diagnosed as Denys-Drash, Meacham, or Frasier syndrome, on a phenotypic continuum that presents as abnormalities of the urogenital system and gonads. Rarely, manifestations appear in the lung, especially in Frasier syndrome. Here we describe the first noted case of congenital diaphragmatic eventration with pulmonary dysplasia in a child with Frasier syndrome. A c.1432+5G > A mutation in intron 9 of WT1 was found. We also summarize pulmonary diseases associated with WT1 mutations in WT1 disorder.

Congenital unilateral diaphragmatic eventration in adults – a case series with a brief literature review

Objective: The aim of this article was to present the results of thoracotomy performed in three symptomatic adult patients with congenital diaphragm eventration in the light of current literature data. Methods: Along with representation of the surgical management of each case, a brief review of literature was performed. Results and Conclusion: Diaphragmatic eventration is a rare clinical entity that may be congenital or acquired. Surgery, which may be open or endoscopic, is the primary treatment modality for symptomatic patients.

EP29.04: 3D lung volume on antenatal ultrasonography can distinguish between congenital diaphragmatic hernia and eventration

EP29.04: 3D lung volume on antenatal ultrasonography can distinguish between congenital diaphragmatic hernia and eventration

Surgical outcome of pediatric thoracoscopic surgery: retrospective evaluation and literature review

IntroductionMinimally invasive thoracoscopic surgical techniques are increasingly being applied in paediatrics for a multiplicity of conditions. It has been shown to minimise thoracic musculoskeletal deformity and to improve pulmonary mechanics compared to open procedures. Methods:All the children who underwent advanced thoracoscopic procedures from July 2020 up to December 2021 were retrospectively evaluated and reviewed with regard to outcome and complications. Techniques of thoracoscopic diaphragmatic hernia repair and decortication for empyema were standardized in our series. Results: There were 26 children who underwent thoracoscopic procedures, out of which 14 were neonates having congenital diaphragmatic hernia and eventration. In addition, there were five children having infective pathologies, namely four empyemas and one lung abscess. All of them had successful thoracoscopic interventions. There were five children who had thoracic neoplastic lesions including three neurogenic tumours. Thoracoscopic diaphragmatic hernia repair was showing good post-operative outcome while the repair of congenital eventration was reported to have 75% recurrence following thoracoscopic repair. Conclusions: Thoracoscopic techniques could be successfully utilized to treat a number of conditions in children. Case selection by predefined criteria and standardized technique in congenital diaphragmatic hernia repair have contributed for improved postoperative outcome. The technique of thoracoscopic repair of diaphragmatic eventration has to be revisited due to its higher recurrence rate in our setting probably due to technical difficulty. Thoracoscopic tumour resections have shown promising outcomes in our series.

Congenital Diaphragmatic Eventration Complicated by Massive Peri-Operative Tension Pneumothorax

A term male infant was born at 2800 g and established on CPAP for respiratory distress. Chest radiograph demonstrated a severe right sided eventration of the diaphragm (Figure 1). Ultrasound of the diaphragm was in keeping with the diagnosis. Both the child’s mother and maternal grandmother had also been diagnosed with the same condition. Echocardiogram revealed a small central ASD/PFO but no pulmonary hypertension. Genetics workup is ongoing. As the child was unable to be weaned off CPAP, thoracoscopic plication of the diaphragm was planned for day eight of life.

Perioperative management of diaphragmatic diseases in neonates and infants

Diaphragmatic diseases(DD) in neonates and infants are rare surgical cases involving the cardiopulmonary and digestive system, complicating perioperative management. The study aims to describe the clinical presentations, radiological imaging, anesthesia and surgical technique of three types of DD; congenital diaphragmatic hernia(CDH), hiatal hernia (HH) and eventration of the diaphragm(ED). This was single-center case series in a tertiary referral and teaching hospital from July to August 2021. Three patients were presented, a 13 days old neonate with CDH, a one-month-old infant with HH and a two-month-old infant with ED. An institutional review board was obtained, and the PROCESS guidelines were used in writing. Main clinical presentation was respiratory distress and vomiting since birth. Radiological imaging was essential to diagnose each case. CDH had more cardiopulmonary complications and more extended post-operative care in intensive care during the perioperative period. DD is a differential diagnosis in early-onset respiratory distress in neonates and infants with recurring infections and trouble feeding. Radiological examination is crucial in the diagnosis, and surgical treatment is favorable. CDH remains the most severe form of DD.

Parvovirus B19 Intrauterine Infection and Eventration of the Diaphragm

Parvovirus B19 infection in pregnancy may have a poor outcome for the fetus. Ocular anomalies, brain damage with hydrocephalus and central nervous system (CNS) scarring, cleft lip and hypospadias, as well myocarditis and congenital heart disease have been reported. We present a case of a preterm female neonate born with ascites, hydrothorax and congenital diaphragmatic eventration (CDE), with a prenatal diagnosis of congenital diaphragmatic hernia (CDH). The neonate was born prematurely at 32 weeks gestation with caesarean section due to a previous caesarean delivery. She was immediately intubated in the delivery room, transferred in the Neonatal Intensive Care Unit (NICU) and supported with high frequency oscillatory ventilation (HFOV). The diagnosis of CDH was sonographically estimated from the 20th week of gestation and surgical correction was decided. During surgery CDE was diagnosed instead of CDH and despite postoperatively care the neonate developed disseminated intravascular coagulation and finally died in the 40th hour of life. Along with the identification of parvovirus B19 in the pleural fluid by PCR, the biopsy of the diaphragm revealed connective tissue, full of vasculature and absence muscle tissue. Although only cytomegalovirus, rubella, and toxoplasmosis were considered to be associated with CDE, parvovirus B19 might also be related to this congenital diaphragmatic malformation. In CDE, the function of the lungs can be compromised as a consequence of the compression applied by the abdominal organs. The neonatologists should include this condition in their differential diagnosis for a more direct and effective management.

Diaphragmatic eventration plication repair with minimal access techniques: a case series

Diaphragmatic eventration is a rare pathological condition occurring in &lt;0.05% individuals causing the diaphragm to permanently ascend into the chest due to partial or complete replacement of diaphragmatic musculature by fibroblastic tissue. Congenital diaphragmatic eventration rarely presents among adults with most patients remaining asymptomatic only to be diagnosed incidentally after chest radiography. Symptomatic patients can present with dyspnoea, orthopnoea, recurrent lower respiratory tract infections or gastrointestinal symptoms. Management varies according to symptoms with asymptomatic cases requiring no intervention and plication being the standard, well-described technique for symptomatic cases. Here we described two cases with eventration approached using different minimal access techniques.

Comparative Study of Thoracoscopic and Modified Small Incision Repair for Congenital Diaphragmatic Eventration in Children.

Background: Thoracoscopic diaphragmatic plication has gained popularity in the treatment of congenital diaphragmatic eventration (CDE), but the therapeutic effect and prognosis have rarely been compared with nonendoscopic surgery. Materials and Methods: The medical records of 77 children who had received treatment for CDE in our institution from September 2006 to January 2019 were retrospectively analyzed. According to the repair approach, the children were divided into a thoracoscopic plication group and a modified small incision plication group. The perioperative characteristics and follow-up details after diaphragm plication were compared between the two groups. Results: Among 77 children with CDE, 44 cases were in the thoracoscopic plication group and 33 cases were in the modified small incision plication group. All the cases of CDE were unilateral, with 13 cases on the left side and 64 cases on the right side. There were no differences in the preoperative characteristics between the two groups. The modified small incision plication group had a higher bleeding volume (P = .000) and a greater proportion of patients needing chest drainage (P = .000), whereas the differences in the total and postoperative hospital stays (P = .088, P = .247, respectively) did not significantly differ between the two groups. There were no differences in postoperative improvement in the location of the diaphragm between the two groups or between the right and left lesions (P = .438, P = .677, respectively). The total follow-up time was 2-11 years. No recurrence was reported during this period in either of the groups, but the incidence of postoperative thoracic deformities was higher in the modified small incision plication group (P = .013). Conclusions: Compared with the modified small incision plication, thoracoscopic plication has the advantages of smaller blood loss, a low percentage of intrathoracic drainage tube usage, and no occurrence of thoracic deformities.

Fetal magnetic resonance imaging in the evaluation of congenital diaphragmatic anomalies

BackgroundCongenital abnormalities of the diaphragm cause impairment of lung development and are an important cause of post-natal morbidity and mortality. Congenital diaphragmatic eventration (CDE), a less sinister diaphragmatic anomaly compared to the more common congenital diaphragmatic hernia (CDH), often tends to mimic CDH on prenatal imaging. This study evaluates the role of fetal magnetic resonance imaging (MRI) in differentiating these two entities.ResultsThis was a retrospective study which included fetal MRI studies done in patients with ultrasound diagnosis of fetal diaphragmatic anomaly. MRI exam was performed with a 1.5 T superconducting system with eight-element torso array coil. The images were studied by two radiologists experienced in fetal imaging in consensus. Diagnosis of CDE was made if the dome of the diaphragm was visualized as a thin hypointense line separating the lung from abdominal structures on coronal and sagittal MRI sequences. If this thin hypointense line was not visualized, a diagnosis of CDH was made. The findings were then correlated with autopsy/intra-operative findings/post-natal imaging follow-up. A total of 12 patients were included in the study. In these 12 patients, 13 diaphragmatic abnormalities were diagnosed on MRI (1 fetus had bilateral diaphragmatic anomaly). Of the 13 diaphragmatic anomalies detected, 7 (54%) were CDH and 6 (46%) were CDE. The type of diaphragmatic anomaly was correctly identified on MRI in all except one fetus in which CDE was misdiagnosed as CDH. The Fisher exact test statistic value was 0.0047. The result was significant at p < 0.01.ConclusionFetal MRI is a useful tool for assessing congenital diaphragmatic anomalies. Visualization of the diaphragm on coronal and sagittal images helps in diagnosis of complete CDE and differentiating it from the more sinister CDH.

Surgical treatment of 125 cases of congenital diaphragmatic eventration in a single institution

BackgroundThis study sought to investigate the clinical characteristics of congenital diaphragmatic eventration (CDE) and to compare the efficacies of thoracoscopy and traditional open surgery in infants with CDE.MethodsWe retrospectively analyzed the clinical data of 125 children with CDE (90 boys, 35 girls; median age: 12.2 months, range: 1 h-7 years; body weight: 1.99–28.5 kg, median body weight: 7.87 ± 4.40 kg) admitted to our hospital in the previous 10 years, and we statistically analyzed their clinical manifestations and surgical methods.ResultsA total of 108 children in this group underwent surgery, of whom 67 underwent open surgery and 41 underwent thoracoscopic diaphragmatic plication. A total of 107 patients recovered well postoperatively, except for 1 patient who died due to respiratory distress after surgery. After 1–9.5 years of follow-up, 107 patients had significantly improved preoperative symptoms. During follow-up, the location of the diaphragm was normal, and no paradoxical movement was observed. Eleven of the 17 children who did not undergo surgical treatment did not have a decrease in diaphragm position after 1–6 years of follow-up. The index data on the operation time, intraoperative blood loss, chest drainage time, postoperative mechanical ventilation time, postoperative hospital stay and postoperative CCU admission time were better in the thoracoscopy group than in the open group. The difference between the two groups was statistically significant (P < 0.05).ConclusionsThe clinical symptoms of congenital diaphragmatic eventration vary in severity. Patients with severe symptoms should undergo surgery. Both thoracoscopic diaphragmatic plication and traditional open surgery can effectively treat congenital diaphragmatic eventration, but compared with open surgery, thoracoscopic diaphragmatic plication has the advantages of a short operation time, less trauma, and a rapid recovery. Thus, thoracoscopic diaphragmatic plication should be the first choice for children with congenital diaphragmatic eventration.

Is the pleating technique superior to the invaginating technique for plication of diaphragmatic eventration in infants?

BackgroundsThe pleating technique is widely used in plication but is difficult to perform with thoracoscopy because of its complex procedure and the limited surgical space. Thus, the invaginating technique was introduced to facilitate thoracoscopic surgery and is now widely used in video-assisted thoracoscopic surgery (VATS) plication. However, the usefulness of the invaginating technique in children has not been established because of the lack of data on long-term outcomes after surgery using the technique. MethodsFrom March 2007 to December 2017, 21 patients who were surgically treated for congenital diaphragmatic eventration and phrenic nerve palsy after congenital cardiac surgery were divided into 2 groups according to the surgical method used (pleating technique: 10 patients, invaginating technique: 11 patients). We evaluated the patients for postoperative outcomes and recurrence of diaphragmatic eventration over 5 years. Postoperative recurrence of diaphragmatic eventration was confirmed by calculating the ratio of the eventration level between the eventrated and normal diaphragms. ResultsIn the 21 patients who underwent diaphragmatic plication, the pleating and invaginating techniques were used in 10 and 11 patients, respectively. The mean follow-up duration was 63.4 ± 48.4 months (pleating group [P] vs invaginating group [I]: 89.1 ± 52.4 vs 40.1 ± 30.8 months, p = 0.022). The mean eventration rates in the 21 patients was 26.7% ± 9.1% (P vs I: 26.6% ± 6.1% vs 26.9% ± 11.3%, p = 0.945) before operation and −2.1% ± 7.3% (−2.8% ± 7.5% vs −1.5% ± 7.4%, p = 0.695) in the immediate postoperative period. From the first to the fifth postoperative year, no recurrence of diaphragmatic eventration was found in any of the groups during the follow-up. ConclusionsThe invaginating technique was easier to perform but showed a similar long-term result as compared with the pleating technique in terms of the growth and development of the chest cavity in the pediatric patients in this study. Thus, we recommend that the invaginating technique be applied in VATS plication for children as an alternative to the pleating technique. Level of evidenceLevel III.

Robot-assisted thoracoscopic plication for diaphragmatic eventration

BackgroundThough conventional thoracoscopic plication is a favorable option of diaphragmatic eventration (DE), ribs limited the movement of trocars, making it difficult to suturing, knot-tying and time-consuming. The purpose of this study was to evaluate delicate surgical maneuvers and suturing time for the management of DE in robot-assisted thoracoscopic plication (RATP). MethodsFrom January 2015 to November 2019, 20 patients (14 males; mean age: 10.5 ± 5.2 months; mean weight: 8.6 ± 4.5 kg) who underwent diaphragmatic plication for DE were reviewed at our institution. There were 13 patients with congenital diaphragmatic eventration and 7 patients with acquired diaphragm eventration after congenital heart surgery. RATP was performed on 9 patients (3 on the left and 6 on the right), and conventional thoracoscopic plication (CTP) was applied to 11 patients (5 on the left and 6 on the right). Demographics, the suturing time and complications were respectively evaluated. ResultsThere was no difference between 2 groups with respect to gender, age at surgery and weight (p > 0.05). No conversion to thoracotomy was needed. The suturing time in RATP group was shorter than CTP group (27.7 ± 3.4 min vs 48.1 ± 4.2 min, p < 0.001). One patient (9.09%) experienced recurrence in CTP group and none was found in RATP group. ConclusionsDiaphragmatic plication with robot-assisted thoracoscopy or conventional thoracoscopy in DE has minimally invasive and good effect on children. RATP overcome the intercostal limitations to complete delicate suturing and free knot-tying, and has better ergonomics. Level of evidenceLevel III.

Left hemidiaphragmatic elevation: Value of histology

Abstract Two neonates presented with left hemidiaphragmatic elevation. Case 1 was a boy transferred to our center at age 3 d. Asymptomatic congenital diaphragmatic eventration (CDE) was suspected. At 8 months, chest computed tomography (CT) revealed persistent left hemidiaphragmatic elevation, and surgical treatment was performed. Immunohistochemistry (IHC) of a resected membranous part of the left hemidiaphragm showed that it contained desmin-positive muscle fibers. Collagen bundles were detected by Elastica van Gieson (EvG) staining. Case 2 was a boy delivered at 38 weeks 3 d gestational age. Fetal ultrasonography and MRI had suggested left hemidiaphragmatic elevation, suspicious for CDE. His Apgar scores were 8 and 6 at 1 minute and 5 minutes. He was intubated immediately after delivery. Weaning from ventilation was unsuccessful and surgery was performed 21 d after delivery. Partial resection of the membranous part and repair of the muscular hemidiaphragm were performed. EcG staining revealed collagen bundles, even though desmin-positive muscle fibers were not seen on IHC. Muscle fibers and collagen bundles are two important components of the diaphragm, and are not found in either the pleura or peritoneum. Accordingly, CDE was diagnosed in both cases. EvG suggested the diagnosis.