[Acquired diaphragmatic hernia in a child with a related liver transplant]. / Priobretennaya diafragmal'naya gryzha u rebenka s rodstvennoi transplantatsiei pecheni.

Acquired diaphragmatic hernia in children is rare. Even less often, this disease occurs after liver transplantation for biliary atresia. In our case, diaphragmatic hernia was acquired, since the patient underwent repeated chest X-ray examinations including CT prior to liver transplantation. There were no signs of hernia. Clinical manifestations of diaphragmatic hernia were absent throughout 9 months after liver transplantation and manifested acutely with combination of symptoms of respiratory failure and intestinal obstruction. Surgical treatment was performed after emergency consultation with attending doctor.

Mediastinal Serous Cavity Mesothelioma in Two Dogs.

The mediastinal serous cavity (MSC)-well documented but seldom recognized in the caudal mediastinum-is embryologically derived from the omental bursa. Mesothelioma arising from the MSC in two dogs is described. Both dogs presented with acute life-threatening hemorrhagic pleural effusion. Contrast computed tomography revealed a large solitary spherical-to-cylindrical tumor in the caudal mediastinum with variably thick, contrast-enhancing walls with lobular to frond-like proliferations that arose circumferentially and projected internally into a single, variably sized, fluid-attenuating lumen. The wall and lumen corresponded to the serous membrane and serous cavity of the MSC. Surgical exploration confirmed that both tumors arose from the mediastinum. Both had similar histologic findings, and special stains were necessary for definitive diagnosis. The tumor was nonresectable in one dog, and it was euthanized intraoperatively. The other survived 7 mo. An MSC mesothelioma should be considered a possible cause of hemothorax in dogs that may be detected on thoracic radiography and computed tomography. Differential diagnoses include esophageal foreign body or neoplasm, paraesophageal diaphragmatic hernia, MCS empyema, and pulmonary adenocarcinoma, with thoracic computed tomography helping to rule out foreign body and diaphragmatic hernia. For confirmed neoplasms, histochemistry and immunohistochemistry should be performed to differentiate between mesothelioma and pulmonary adenocarcinoma.

Diaphragmatic hernia after radiofrequency ablation of liver tumor case report and literature review.

INTRODUCTION: Radiofrequency ablation is an effective management modality for irresectable primary and secondary liver tumors. Some serious complications have been reported including diaphragmatic hernia. Diaphragmatic hernia is the protrusion of abdominal viscera into the thoracic cavity through a diaphragmatic defect and usually classified into congenital and acquired. After RFA, diaphragmatic hernia is a rarely-reported complication. CASE REPORT: A 62-year-old male patient, known to have liver cirrhosis on top of hepatitis C virus, presented to the emergency department with generalized abdominal pain and vomiting four months after having a RFA procedure for a liver tumor in segment VIII. Computed tomography showed diaphragmatic hernia with strangulated terminal ileum in the chest. Emergency laparotomy was performed with resection of an ileal segment and creation of double barrel ileostomy. The patient was discharged in a good condition after tolerating oral intake. CONCLUSION: Radiofrequency ablation is an effective modality for management of the primary and secondary liver tumors. Despite its safety, some complication may happen owing to its thermal effect and the associated patients general condition. Many techniques have been described to decrease its thermal injury. Diaphragmatic hernia is a rare complication after RFA. Its clinical presentation may be confusing and it may occur as early as one month after RFA. Its diagnosis depends mainly on computed tomography. Emergency surgical management is the standard approach.

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.

Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same patients. We report a newborn girl with brachytelephalangic chondrodysplasia punctata (BCDP) as well as frontonasal dysplasia, ptosis, bilateral hearing loss, vertebral anomalies, and pulmonary hypoplasia who was found, by whole exome sequencing, to have a de novo pathogenic variant in RAF1 (c.770C>T, [p.Ser257Leu]) and a likely pathogenic variant in SIX2 (c.760G>A [p.A254T]), as well as maternal systemic lupus erythematosus (SLE). This case shows that BCDP is most probably not a diagnostic entity and can be associated with various conditions associated with CDP including maternal SLE.

Uncommon presentation of a recurrent diaphragmatic hernia after pediatric liver transplantation.

DH is a rare but well-recognized complication of PLT. However, a recurrent DH in the setting of PLT has not been reported. We report the case of a child who had previously undergone a DH repair early after PLT and presented more than two years later with atypical findings of severe sepsis and a tender abdominal swelling.

Diaphragmatic hernias after pediatric liver transplantation: Experience of a high-volume transplant center.

Diaphragmatic hernias (DHs) are rare complications after pediatric liver transplantation (PLT). It is now widely accepted that DHs after liver transplantation (LT) is a pediatric related condition. PLTs (under of age 18) performed between January 2013 and June 2019 at Malatya Inonu University Institute of Liver Transplantation were retrospectively scanned. Study group consisting DHs and a control group were compared. Among 280 PLTs, 8 of them were complicated with DHs (%2.9). Median age of the patients with DH was 3.0 (0.8-9.5) years. Median graft recipient weight ratio was 2.5 (0.9-4.4). Five patients were below 5th percentiles in terms of pediatric weight growth chart at the time of LT. Also, 6 patients were below 5th percentiles in terms of pediatric height growth chart. There was no statistical difference between study and control groups. There are many risk factors mentioned in literature that may be primarily responsible for DHs after PLT. These factors are left lobe and large-for-size grafts, malnutrition, trauma or diathermy of diaphragmatic nerve and vessels and immunosuppressants. In our study, we could not specify any reason that differs in DHs. In our aspect, narrow diaphragma and thorax are exposed to high intra-abdominal pressure from abdomen. Large-for-size grafts, which are specific to children, also may contribute to this affect. Excessive diathermy and trauma to diaphragmatic collaterals may aggravate the risk of DH. More patients are needed to make an exact conclusion, in order to evaluate with comparable study on this aspect.

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.

BACKGROUND: Congenital scoliosis (CS) is a common vertebral malformation. Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia characterised by multiple vertebral malformations and rib anomalies. In a previous study, a compound heterozygosity for a null mutation and a risk haplotype composed by three single-nucleotide polymorphisms in TBX6 have been reported as a disease-causing model of CS. Another study identified bi-allelic missense variants in a SCD patient. The purpose of our study is to identify TBX6 variants in CS and SCD and examine their pathogenicity. METHODS: We recruited 200 patients with CS or SCD and investigated TBX6 variants. We evaluated the pathogenicity of the variants by in silico prediction and in vitro experiments. RESULTS: We identified five 16p11.2 deletions, one splice-site variant and five missense variants in 10 patients. In vitro functional assays for missense variants identified in the previous and present studies demonstrated that most of the variants caused abnormal localisation of TBX6 proteins. We confirmed mislocalisation of TBX6 proteins in presomitic mesoderm cells induced from SCD patient-derived iPS cells. In induced cells, we found decreased mRNA expressions of TBX6 and its downstream genes were involved in somite formation. All CS patients with missense variants had the risk haplotype in the opposite allele, while a SCD patient with bi-allelic missense variants did not have the haplotype. CONCLUSIONS: Our study suggests that bi-allelic loss of function variants of TBX6 cause a spectrum of phenotypes including CS and SCD, depending on the severity of the loss of TBX6 function.

Iatrogenic diaphragmatic hernia in an infant following cardiac surgery: the culprit in a case of unresolved respiratory distress: Case report and review of the literature.

Acquired diaphragmatic hernia is a rare complication of pediatric intervention or surgery. In this study, we report an infant with iatrogenic diaphragmatic hernia following neonatal complex congenital cardiac surgery, and then we review the associated literature.

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Spondylocostal dysostosis (SCD) is a rare disorder characterized by vertebral segmentation defects and malformations of the ribs. SCD patients have some degree of (kypho)scoliosis, short stature and suffer from respiratory impairment due to the reduced size of their thoracic cage. Mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2 are known to cause different subtypes of SCD. Here, we report on a male neonate with an apparent distinct SCD-like phenotype only partly overlapping the previously described SCD subtypes. The proband presented with severe rib malformations (missing, fused, bifid, and hypoplastic ribs), vertebral malformations (intervertebral fusions of the laminae and irregular ossification of the vertebral bodies), and a mild scoliosis. Clear segmentation defects of the vertebral bodies were lacking. Other dysmorphic features were present as well. Severe respiratory insufficiency was present from birth. Whole exome sequencing identified a homozygous start-loss variant in DMRT2 (NM_006557.6: c.1A > T p.[Met1?]) being a likely cause of the SCD-like phenotype in the proband. Mutations in DMRT2 (OMIM#604935) have not been described in relation to SCD-related phenotypes in humans before. However, Dmrt2 knock-out mice exhibit severe rib and vertebral defects that strikingly overlap with the radiological phenotype of the proband reported here. Therefore, it seems plausible that mutations in DMRT2 are associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies.

Case series and systematic review of acquired diaphragmatic hernia after liver transplantation.

BACKGROUND: ADH is a rare and potentially fatal complication following LT. In this study, a systematic review was completed to identify risk factors which may contribute to ADH. METHODS: Transplant databases at three LT programs were reviewed. Four pediatric and zero adult cases were identified. Next, a systematic review was completed. Fourteen studies describing 41 patients with ADH were identified. Patient demographics, transplant characteristics, and features of ADH diagnosis were examined. RESULTS: The majority (90.2%) of ADH were in children. In pediatric LT, 95.1% received a segmental allograft. ADH occurred in the right P diaphragm 92.7% of the time, and 87.8% were repaired primarily. Patient demographics, post-transplant complications, and immunosuppression regimens were broad and failed to predict ADH. Most patients presented with either respiratory or gastrointestinal symptoms. There were two pediatric deaths related to undiagnosed ADH. The combined worldwide incidence of ADH in pediatric LT is 1.5% (34/2319 patients). CONCLUSION: ADH is a rare complication post-LT that primarily occurs in pediatric recipients. When diagnosed early, ADH can be repaired primarily with good outcomes.

Fragile X Syndrome with Congenital Diaphragmatic Hernia.

The authors present a case of Fragile X syndrome (FXS) in siblings from an Indian family with no developmental delay in previous generations. The boy presented with developmental delay, autistic features and defiant behaviours that raised clinical suspicion. He also had congenital diaphragmatic hernia (CDH). Social anxiety and difficulty in making friends were the subtle features in his sister with dull normal intelligence. FXS was confirmed by clinical features and DNA testing. Intervention was initiated for both the siblings. Screening siblings in FXS is important. CDH can be associated with FXS.

[Massive Morgagni Hernia as a Reason for Lung Function Impairment]. / Morgagni-Hernie als Ursache einer restriktiven Ventilationsstörung.

Hernia of Morgagni is the most rare of the four types of congenital diaphragmatic hernia (2 % - 3 % of all cases). In adults, it commonly presents with non-specific symptoms. In severe cases patients complain about shortness of breath and in lung function analysis a restrictive pattern can be observed. This paper presents a rare case of a massive diaphragmatic hernia of the right thorax which remained undiagnosed over many years and gives an up-to-date overview of the literature. The transabdominal approach using laparoscopic repair is favored in adults especially in non-acute cases. In our patient, the lung expanded postoperatively in most parts resulting in improvement of lung function and blood gas analysis.

Diaphragmatic hernia in a pet chinchilla (Chinchilla lanigera).

A 10-year-old pet chinchilla (Chinchilla lanigera) was referred for ultrasound investigation of a thoracic mass. The mass was initially believed to be a pulmonary abscess or tumor based on radiographs and ultrasound. Cytological examination suggested the presence of a gastrointestinal structure in the thorax, and necropsy revealed a true diaphragmatic hernia subdividing the stomach into thoracic and abdominal portions.

Hernie diaphragmatique chez un chinchilla de compagnie(Chinchilla lanigera). Un chinchilla (Chinchilla lanigera) domestique mâle castré de 10 ans a été référé pour investigation échographique d'une masse thoracique. Basé sur les radiographies et l'échographie, il fut initialement pensé que la masse était un abcès ou une tumeur pulmonaire. L'analyse cytologique suggérait la présence d'une structure gastro-intestinale dans le thorax et la nécropsie a révélé une vraie hernie diaphragmatique qui divisait l'estomac en une partie thoracique et une partie abdominale.(Traduit par les auteurs).

[Diaphramatic Herniation of Abdominal Contents: Case Series and Review of the Literature]. / Der postoperative Enterothorax ­ Fallserie und Literaturanalyse.

Background An enterothorax with herniation of bowel segments through a diaphragmatic defect is a rare postoperative complication, which can occur in the early postoperative period as well as several months or even years after the primary procedure. In virtually all cases, this diagnosis requires surgical treatment with reposition of the herniated structures and closure of the diaphragmatic defect. The aim of this study was to describe a larger case series of a rare complication and to present a review of the literature. Material and Methods The data of all patients treated for postoperative enterothorax at our centre were retrospectively analysed with a special focus on time of occurrence, type of clinical symptoms, surgical treatment and postoperative morbidity. Results From March 2007 to October 2014, twenty patients underwent surgery due to postoperative enterothorax. Six cases (30 %) were early postoperative complications (mean 10th postoperative day); in 14 patients (70 %) the enterothorax presented with delay (mean 42 months after primary surgery). The variance of the clinical symptoms was wide, but in the majority of cases, patients presented with symptoms of ileus or new-onset dyspnoea. In two patients (10 %) the diagnosis was an incidental finding without clinical symptoms. Computed tomography (CT) was performed in 70 % (n = 14), chest X-rays in 30 % (n = 6) of patients for diagnosis. Immediate laparotomy was performed in 15 % (n = 3) of cases. The diaphragmatic defect involved the left side in 75 % of cases (n = 15). Surgical treatment was performed via laparotomy in all patients. The diaphragm was closed by a direct suture in 70 % of patients (n = 14); in six patients (30 %) an augmentation (mesh or tissue patch) was added. Overall postoperative morbidity was 55 %; for elective operations it was 0 %. One patient died in the further postoperative course. Conclusion Postoperative enterothorax may occur early or years after primary surgery. Surgical treatment should be performed in a timely manner even in asymptomatic patients to avoid further complications.

Time-Trend Analysis of Pulmonary and Diaphragmatic Functionality in Patients with Diaphragmatic Palsy or with Chronic Diaphragmatic Hernia after Surgical Treatment.

Background The aim of this study was to assess long-term pulmonary and diaphragmatic function in two cohorts of patients: the first one affected by diaphragmatic palsy (DP) who underwent plication reinforced by rib-fixed mesh and the second one affected by chronic diaphragmatic hernia (TDH) who underwent surgical reduction and direct suture. Materials and Methods From 1996 to 2011, 10 patients with unilateral DP and 6 patients with TDH underwent elective surgery. Preoperative and long-term (12 months) follow-up assessments were completed in all patients, including pulmonary function tests (PFTs) with diffusion of the lung for carbon monoxide (DLCO), measure of maximum inspiratory pressure (MIP) assessed both in standing and in supine positions, blood gas analysis, chest computed tomographic (CT) scan, and dyspnea score. The Pearson chi-square test, Fisher exact test, and Student t-test were applied when indicated. Results At long-term (12 months) postoperative follow-up, patients operated for DP showed a significant improvement in terms of forced expiratory volume in 1 second (FEV1%) (+ 18.2%, p < 0.001), forced vital capacity (FVC%) (+ 12.8%, p < 0.001), DLCO% (+ 8.3%, p = 0.04), and Po 2 (+ 9.86 mm Hg, p < 0.001) when compared with baseline values. Conversely, when considering the TDH group, only the levels of Po 2 were found to be significantly higher in the postoperative assessment (+ 8.3 mm Hg, p = 0.04). Although MIP increased in both the groups after surgery, a persistent and significant decrease of MIP was detected in TDH group when comparing the levels assessed in supine position with those measured in the standing position (p < 0.001). Medical Research Council dyspnea scale improved in the DP group by a factor of 0.80 (p < 0.001) and in the TDH group by a factor of 0.33 (p = 0.175). Conclusion In patients who underwent surgery for DP, good long-term results may be predicted in terms of pulmonary flows, volumes, and DLCO. Conversely, in patients who underwent elective surgery for chronic TDH, a persistent overall restrictive pattern, lower MIP values in supine position, and paradoxical motion could be expected.

Traumatic Pulmonary Herniation at the Diaphragmatic Junction in a Pediatric Patient: A Rare Complication of Blunt Chest Trauma.

We present a case of traumatic intercostal pulmonary herniation in an 11-year-old boy after blunt trauma to the chest, without associated chest wall disruption or pneumothorax. This condition is especially uncommon in children, with only 5 previously reported cases and most occurring after penetrating chest trauma. To date, there are no reports in literature describing traumatic intercostal lung herniation at the diaphragmatic junction with a closed chest cavity in a child. The number of traumatic lung herniation diagnoses may be expanded by a more liberal use of computed tomography when serious injury is suspected. Computed tomography and advanced imaging should be considered in pediatric trauma patients presenting with concern for intrathoracic injury that may not be seen on plain film. Traumatic blunt intrathoracic and intra-abdominal injuries in the pediatric population that are within proximity of diaphragmatic insertion should be thoroughly evaluated to rule out diaphragmatic injury. As in our case, invasive surgical intervention such as thoracoscopy may be necessary.

Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.

Fryns syndrome is a multiple congenital anomaly syndrome with an autosomal recessive inheritance. Here we describe the autopsy case findings of a 19-week male fetus, born out of a consanguineous marriage. The dissection revealed left-sided diaphragmatic hernia, resulting in pulmonary hypoplasia and shift of heart to the right side. In addition, anencephaly and spina bifida throughout the vertebral column were observed. All six criteria for Fryns syndrome were met. Such a presentation of Fryns syndrome associated with Craniorachischisis Totalis has not been reported so far. We have also tabulated the overlapping features of some multiple congenital anomaly syndromes that need to be distinguished at autopsy for an accurate diagnosis.

Acquired right diaphragmatic hernia following pediatric living donor orthotopic liver transplantation.

ADH following OLT is a rare entity. Herein, we report a case of Alagille syndrome who developed ADH secondary to OLT, and possible etiological causes are discussed in light of the literature.

Chest wall hypoplasia--principles and treatment.

The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune syndrome, present significantly different challenges than those faced with early onset scoliosis in which chest wall mechanics and thoracic volume may be much closer to normal. Because of this difference more aggressive approaches to clinical and surgical management are necessary.

Symptomatic diaphragmatic herniation following open and minimally invasive oesophagectomy: experience from a UK specialist unit.

BACKGROUND: The uptake of minimally invasive oesophagectomy (MIO) in the UK has increased dramatically in recent years. Post-oesophagectomy diaphragmatic hernias (PODHs) are rare, but may be influenced by the type of approach to resection. The aim of this study was to compare the incidence of symptomatic PODH following open and MIO in a UK specialist centre. METHODS: Consecutive patients undergoing oesophagectomy for malignant disease between 1996 and 2012 were included. A standardised, radical approach to the abdominal phase was employed, irrespective of the type of procedure undertaken. Patient demographics, details of surgery and post-operative complications were collected from patient records and a prospective database. RESULTS: A total of 273 oesophagectomies were performed (205 open; 68 MIO). There were 62 hybrid MIOs (laparoscopic abdomen and thoracotomy) and six total MIOs. Seven patients required conversion and were analysed as part of the open cohort. Nine patients (13.2 %) developed a PODH in the MIO cohort compared with two patients (1.0 %) in the open cohort, (p < 0.001). Five patients developed hernias in the early post-operative period (days 2-10): all following MIO. Both PODHs in the open cohort occurred following transhiatal oesophagectomy. All PODHs were symptomatic and required surgical repair. CT thorax confirmed the diagnosis in 10 patients. Seven hernias were repaired laparoscopically, including two cases in the early post-operative period. PODHs were repaired using the following techniques: suture (n = 6), mesh reinforcement (n = 4) and omentopexy to the anterior abdominal wall without hiatal closure (n = 1). There were two recurrences (18 %). CONCLUSIONS: The incidence of symptomatic PODH may be higher following MIO compared to open surgery. The reasons for this are unclear and may not be completely explained by the reduction in adhesion formation. Strategies such as fixation of the conduit to the diaphragm and omentopexy to the abdominal wall may reduce the incidence of herniation.