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A 5-year-old spayed female Maltese was referred due to a suspected diaphragmatic hernia. Radiography revealed a soft tissue mass in the right caudal thorax with loss of diaphragm cupola dome-shape. A diaphragmatic hernia was considered, but surgical exploration revealed an intact diaphragm and unremarkable liver lobes. CT after a surgical inspection showed all intact liver lobes and intrathoracic mass connected to the liver. The intrathoracic mass was retracted to the abdomen by incising the diaphragm. Histopathologic examination revealed hepatocellular vacuolar degeneration, indicating an intrathoracic ectopic liver. Intrathoracic ectopic liver should be included in the differential diagnosis when diaphragmatic hernia is suspected in radiography., (© 2024 American College of Veterinary Radiology.)

Background: Thoracic endometriosis syndrome gives rise to various clinical and radiological manifestations. We reviewed the records of patients operated for intrathoracic migration of abdominal viscera through a diaphragmatic hernia secondary to thoracic endometriosis., Methods: We retrospectively reviewed the single-center prospective collected database of all patients operated for thoracic endometriosis during the twenty years. All cases in which an abdominal organ was found to be herniated into the thoracic cavity were retrieved. Clinical and pathological data are presented and analyzed., Results: Twenty women of median age 36 (range 25-58) years were operated for endometriosis-related diaphragmatic hernia. The hernia was diagnosed concomitantly with endometriosis-related pneumothorax in 13 cases and during the exploration of catamenial thoracic pain in seven cases. There were 18 cases on the right side and two cases on the left side. The median diameter of the hernia was 8 cm (2.5-20 cm). In seventeen cases, the hernia was repaired by direct suture, and in three cases a heterologous prosthesis was positioned. At follow-up, two patients had an episode of recurrent pneumothorax., Conclusions: Diaphragmatic hernia should be ruled out in the presence of endometriosis-related pneumothorax or catamenial thoracic pain. Surgery is indicated to make a pathological diagnosis, restore anatomy, and prevent recurrence in patients presenting with pneumothorax., (© 2024. The Author(s), under exclusive licence to The Japanese Association for Thoracic Surgery.)

The syndrome of anterior fibroneural stalk, vertebral anomaly, enteric duplication cyst, and diaphragmatic hernia is a manifestation of abnormal notochordal development due to persistence of the neurenteric canal beyond early fetal gestational age. Our description of the third such published case to date supports this novel tetralogy and further illustrates the role of both pre- and postnatal imaging in achieving the diagnosis., (© 2024. Crown.)

Presentation of congenital diaphragmatic hernia in adulthood is rare. Further, most cases are attributable to Bochdalek and Morgagni hernias with central tendon hernias being particularly uncommon. We report a case of central congenital diaphragmatic hernia in an adult presenting as large intestinal obstruction and respiratory failure. Open repair of the hernia was performed, which brought about the resolution of the patient's symptoms. This case report highlights the possibility for congenital diaphragmatic hernia to present in adulthood and the importance of early diagnosis and treatment in these situations., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Laparoscopic intraperitoneal onlay mesh repair is favoured for diaphragmatic hernias due to better outcomes. However, fixation devices pose risks, including cardiac tamponade. A man underwent laparoscopic repair for a large diaphragmatic hernia. One week later, he presented with chest discomfort which was initially attributed to postoperative pain. Subsequently, patient represented with worsening of chest pain and tachycardia. CT requested to rule out pulmonary embolism revealed a large pericardial effusion. Urgent drainage via apical approach resolved tamponade. The case highlights the challenges in managing pericardial effusions post-laparoscopy in the presence of diaphragmatic mesh and stresses multidisciplinary collaboration. Literature review highlights risks associated with fixation devices. Suggestions include limiting their use near vital structures. Key learning point of this case report is to raise awareness of cardiac tamponade following diaphragmatic hernia repair. Limited evidence necessitates cautious use of fixation devices, emphasising patient safety., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: Declaration of competing interest The authors have no conflicts of interest concerning this article.

The diaphragm is a critical musculotendinous structure that contributes to respiratory function. Disorders of the diaphragm are rare and diagnostically challenging. Herein, the author reviews the radiologic options for the assessment of the diaphragm., Competing Interests: Disclosure I am a consultant for Intuitive surgical, BMS, Genentech and Merck. I give talks on behalf of Intuitive, BMS and ASCO. None of these are pertinent to the contents of this chapter., (Copyright © 2024 Elsevier Inc. All rights reserved.)

The clinical case of a 53-year-old woman diagnosed with a right Bochdalek hernia complicated by intestinal obstruction is presented. This type of diaphragmatic hernia is rare, especially those located on the right side, but is the most common non-hiatal hernia. Her diagnosis focused on the computed tomography of the chest and abdomen and the repair was performed using a laparoscopic approach. A primary closure was carried out associated with the placement of polypropylene mesh. Her evolution was favorable, with no complications associated with the procedure.

This paper presents the case of a 32-year-old female patient with acute colon incarceration in the thoracic cavity due to Bochdalek hernia. An asymptomatic right Bochdalek hernia was also discovered, which is a rare finding. The patient underwent laparotomy with reposition of the incarcerated organs and primary closure of the left-sided defect. The stenotic portion of the originally incarcerated colon was resected one year later due to the symptoms of chronic bowel problems. At present, 18 months from the first surgery, the patient's clinical condition remains good with a positive clinical response to the secondary surgery involving resection of the stenotic colon, and the right Bochdalek hernia remains asymptomatic.

A 3-year-old pregnant female alpaca was noticed due to increased lying and decreased feed intake after shearing. Twelve days after shearing, she aborted an almost completely developed cria. After another two days, the alpaca was recumbent and subsequently died during transport to the clinic. A dissection of the carcass revealed a diaphragmatic hernia. Diaphragmatic hernias have been described in many different species, diagnosis can be made by radiography or ultrasound. Depending on the extent, surgical therapy may be successful., Competing Interests: Die Autoren bestätigen, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

64-Year-old male patient with hepatocellular carcinoma (HCC), liver cirrhosis, chronic hepatitis C infection, and glottic cancer presented with acute progressive abdominal pain and palpable mass in right upper quadrant of the abdomen. Despite treatment with hyoscine and tramadol, the symptoms persisted. He had received three sessions of Transcatheter arterial chemoembolization (TACE) and two sessions of microwave ablation (MWA) for HCC treatment, with the last session being TACE 11 months prior. Plain film abdomen showed bowel gas pattern in the right hemithorax compatible with bowel obstruction. CT imaging revealed a right diaphragmatic hernia containing closed loop small bowel obstruction. An emergency exploratory laparotomy was performed. The patient improved and was discharged. There was no recurrence of diaphragmatic hernia or abdominal mass or pain at the 6-month follow-up visit. We herein demonstrate a catastrophic complication of TACE by using an IPA and MWA which leads to right diaphragmatic hernia., (© 2023. Japanese Society of Gastroenterology.)

Hepatic heria in adult without history of trauma or surgery is rare, and is sometimes operated under the diagnosis of lung or diaphragmatic tumor. Here, we report a case of hepatic hernia which had been preoperatively suspected of pleural tumor and surgically treated. At surgery, multiple lesions mimicking ectopic endometriosis were found on the diaphragma and hepatic profrusion was found from one of lesions.

Competing Interests: Conflict of interest: None declared.

A one-year-old neutered, Goldendoodle presented for evaluation. One week prior to presentation, the surgical closure of a peritoneopericardial diaphragmatic hernia was performed via ventral midline celiotomy. Since the procedure, the dog had been lethargic and anorexic at home. Thoracic radiographs revealed a pneumopericardium. Pericardiocentesis was performed which evacuated approximately 100 mL of air from the pericardial sac. The dog recovered well and began eating in the hospital and resumed normal activity. This is the first reported case of a pneumopericardium post-peritoneopericardial diaphragmatic hernia repair requiring pericardiocentesis. Clinicians should be aware of this rare complication in patients with post-operative peritoneopericardial diaphragmatic hernia., Competing Interests: Conflict of Interest Statement The authors do not have any conflicts of interest to disclose., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Background: Both diaphragmatic hernia and thoracic gastropericardial fistula rarely occur simultaneously in patients with radical esophagectomy., Case Presentation: A 72-year-old man presented to our hospital with 1 day of nausea, vomiting and acute left chest pain. He had radical esophagectomy (Sweet approach) for esophageal cancer 18 years ago. Computed tomography (CT) of the chest revealed diaphragmatic hernias and air collection within the pericardial space. While an operation of diaphragmatic hernia repair was decisively performed to prevent further serious complications, unusually, a thoracic gastropericardial fistula was also found unusually., Conclusion: Diaphragmatic hernia and thoracic gastropericardial fistula may occasionally coexist in patients with esophagectomy. Upper GI radiograph with a water-soluble contrast agent is a better diagnostic tool than CT in visualizing the fistula.

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The diaphragm serves as an anatomic border between the abdominal and thoracic cavities. Pathologic conditions traversing the diaphragm are often incompletely described and may be overlooked, resulting in diagnostic delays. Several routes allow abdominal contents or pathologic processes to spread into the thorax, including along normal transphrenic structures, through congenital defects in the diaphragm, through inherent areas of weakness between muscle groups, or by pathways created by tissue destruction, trauma, or iatrogenic injuries. A thorough knowledge of the anatomy of the diaphragm can inform an accurate differential diagnosis. Often, intraperitoneal pathologic conditions crossing the diaphragm may be overlooked if axial imaging is the only approach to this complex region because of the horizontal orientation of much of the diaphragm. Multiplanar capabilities of volumetric CT and MRI provide insight into the pathways where pathologic conditions may traverse this border. Knowledge of these characteristic routes and use of multiplanar imaging are critical for depiction of specific transdiaphragmatic pathologic conditions. © RSNA, 2020.

Introduction: Ablation has become an effective treatment for small hepatocellular carcinomas (HCC). Whilst ablation is a safe and effective technique, diaphragmatic injury is a rarely associated but significant complication. Case presentation: We present a case of a 67 year old patient who developed a diaphragmatic defect following microwave ablation (MWA) for HCC. The diaphragmatic defect progressed to herniation which was complicated by perforation of intrahernial large bowel. The patient was treated by emergency laparotomy and an extended right hemi-colectomy was performed., Conclusion: Our report adds to the current available knowledge on diaphragmatic injury following hepatic ablation and demonstrates the potential for life threatening consequences associated with this complication.

Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations., Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches., Results: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein., Significance: Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA., (© 2020 International League Against Epilepsy.)

Introduction: Diaphragmatic hernia (DH) repair after esophagectomy is infrequent and technically challenging. Such hernias are mostly asymptomatic and have an estimated incidence of around 2.5%. Controversy continues over suture versus mesh cruroplasty. This article reports a series of cases and a description of the technique, showing this type of procedure being performed in the medical literature and its results. Methods: A DH was diagnosed, and repair was performed in eight out of 328 esophagectomies. All of them were performed through the following steps: (1) Pulling the hernia content down properly without handling the intestinal segment directly to not promote serosal lesions; (2) Lysis of adhesions-this should be done close to the diaphragmatic pillar, with precaution toward the vessels running in the epiplon and near the greater gastric curvature; and (3) Closure of the diaphragmatic hiatus achieved with anterior and posterior sutures. Mesh repair was performed across the DH defects that measured more than 5.5 cm. Results: The patients constituted five men (62.5%) with a mean age of 61.6 years. The main DH-related symptom was abdominal pain, reported by four patients (50%). The other symptoms mentioned were dyspnea (37.5%), thoracic pain (25%), and dysphagia (25%). The mean hospitalization period was 17.5 days and was related to the restoration of the respiratory function. Most of the DH repairs were performed by adopting a laparoscopic approach. Conclusions: DH is a rare complication following esophagectomy with most of the symptomatic manifestations. However, its repair is feasible and safe, with low morbidity (only respiratory complications) and no mortality.

We report an unusual case of strangulated diaphragmatic hernia secondary to a pericardial ablation, which resulted in necrosis of the incarcerated small bowel. Through a literature search, we have found a limited number of similar cases introducing a case series for this rare but potentially fatal condition.

Purpose: Diaphragmatic herniation (DH) is a rare but potentially fatal event after total gastrectomy (TG). Despite being life-threatening, risk factors for postoperative DH have yet to be elucidated. We conducted a retrospective analysis to identify clinical characteristics of patients developing DH after TG, along with a comprehensive review of the published literature., Methods: Among 1361 consecutive patients undergoing TG for esophagogastric cancer between 1985 and 2013 in Toranomon Hospital, those requiring surgical intervention for postoperative DH were included. We also conducted a PubMed literature search on DH following TG., Results: Five patients (four males, one female), with a median age of 68 at DH surgery, were identified. Intervals between TG and DH repair ranged from 2.9 to 189.0 (median, 78.1) months. Four patients had needed emergency surgery. Three patients had undergone open TG and two others laparoscopic TG, suggesting a significantly higher incidence of DH after laparoscopic TG (3/1302 vs. 2/59, p = 0.017). The diaphragmatic crus incision, creating the space for esophagojejunostomy, had been performed in all cases. The literature yielded seven relevant publications (16 patients). Intervals between TG and DH reduction ranged from 2 days to 36 months. All operations for DH had been carried out emergently., Conclusion: The risk of DH persisted after TG. DH is potentially a very late complication of TG, presenting as a surgical emergency. Laparoscopic TG was suggested to be a risk factor for postgastrectomy DH. Incising the crus might also be a predictor of DH. Measures to prevent DH, e.g., appropriate closure of the crus, would be recommended in minimally invasive TG.

Background: Jarcho-Levin syndrome (JLS) is a rare congenital disorder characterized by different clinical and radiologic findings. The disease was first reported by Jarcho and Levin in 1938, and it was described as the presence of various malformations or abnormal fusion in the thoracic vertebrae and ribs, short trunk, and respiratory distress., Case Description: In our case, fusion at the thoracic and cervical vertebrae, butterfly vertebrae, and a crablike-shaped thorax was present. The patient had a short trunk, short stature, and long extremities. Moreover, he had a syndromic face and restrictive-type respiratory distress. There was a glomus tumor in the carotid space. In our literature review, we found that neural tube defects are frequently present in this syndrome. However, we could not identify any cases with affected neural crest cells., Conclusions: JLS may affect cells derived from the neural crest located between the neural tube and surface ectoderm. Therefore patients with JLS should be screened for other tumors located in this area., (Copyright © 2019 Elsevier Inc. All rights reserved.)

A 35 year old woman with chronic pelvic endometriosis suffered from right scapular pain. MRI imaging showed a right diaphragmatic rupture with liver herniation. Surgical procedure was performed by thoracotomy. The liver was put back into the abdomen, endometriosis was resected from the diaphragm, interrupted non absorbable suture of the diaphragm was performed and an absorbable mesh was placed. Endometriosis was confirmed on histological analysis of the resected diaphragm. To study this pathology, we performed a systematic review of the literature and found 12 similar cases of diaphragmatic rupture due to endometriosis. Right diaphragm is often involved and rupture is always located on the tendinous portion. Symptoms are mainly cyclic right scapular pain and cathamenial pneumothorax. MRI should be performed in case of suggestive symptoms and a systematic exploration of the diaphragm should be performed at laparoscopy for an early treatment of the lesions to prevent progression to rupture., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Competing Interests: Die Autoren geben an, dass kein Interessenkonflikt besteht.