Diaphragmatic eventration associated with megacolon: A case report.

INTRODUCTION: Diaphragmatic eventration (DE) associated with gastrointestinal anomalies is rarely reported, and its treatment is not well defined. CASE PRESENTATION: We present a 24-years-old male admitted for cough, dyspnea, and chest pain, all of gradual onset. Chest computerized tomography (CT) and chest x-ray diagnosed diaphragmatic eventration and colonic distension. He underwent surgery via a posterolateral thoracotomy. We found colonic distension which pushed the left hemidiaphragm under intense pressure further into the chest, making immediate diaphragmatic plication via the chest difficult. We managed this by colonic needle decompression followed by resection and plication of the diaphragm. The patient had a satisfactory postoperative recovery with a good respiratory profile and no constipation. At a follow up visit, barium enema showed megacolon with no apparent etiology. He is to have a long-term outpatient follow up. DISCUSSION: Diaphragmatic eventration coexisting with megacolon is rare. Data available suggests supplementary abdominal workup is necessary to better plan the surgery. Surgical correction via an abdominal route tends to be more appropriate in these scenarios. CONCLUSION: In cases of gastrointestinal anomaly associated with diaphragmatic eventration, more careful abdominal consideration is needed to better plan the surgery.

Non-traumatic Diaphragmatic Eventration With Extrapulmonary Tuberculosis Presenting As Pleural Effusion in an Indian Male: The First Report of Its Type.

Tuberculosis is rampant in endemic countries. Extrapulmonary tuberculosis, like pleural effusion, is infrequently reported in outpatient departments. However, diaphragmatic eventration is rare and is not reported in active tuberculosis. Herein, the first-of-its-type case of a diaphragmatic eventration with tuberculous right pleural effusion in an Indian male is presented. The diagnosis was challenging and achieved through radiometric investigations and diagnostic pleural tapping. He was put on an anti-tuberculous treatment based on his weight.

Clinical evaluation and surgical intervention for diaphragmatic eventration mimicking peritoneopericardial hernia in a cat.

A 2-year-old spayed female British Shorthair cat presented with an increased frequency and duration of cough since infant period. Based on radiographic, ultrasonographic, and computed tomography findings, peritoneopericardial diaphragmatic hernia was considered so that repair surgery was planned. During celiotomy, lax diaphragm was identified instead of defect. Transabdominal diaphragmatic plication was performed to resolve lax diaphragm and to prevent recurrence by overlapping relatively normal part of diaphragm. Diagnosed with diaphragmatic eventration postoperatively, the cat showed improvement in clinical signs and imaging results. Transabdominal diaphragmatic plication is a suitable treatment; the patient maintained normally during a 14-month follow-up period.

Ectopic Intrathoracic Kidney due to Diaphragmatic Eventration Detected on Bone Scan.

The technetium-99m methylene diphosphonate (99mTc-MDP) whole-body bone scan along with single-photon emission computed tomography (SPECT/CT) can detect challenging soft tissue uptake patterns. We present a case of a 67-year-old female in whom the 99mTc-MDP scan, performed 3 hours after injection, revealed abnormal soft tissue uptake in the right thoracic region. No functioning right kidney was seen in the right lumbar region. Hybrid SPECT/CT revealed an ectopic right kidney in the subdiaphragmatic location, accompanied by gut loops and eventration of the right-sided diaphragm. This case underscores the value of SPECT/CT in identifying and characterizing unexpected anatomical abnormalities, such as ectopic kidneys.

Incidentally detected diaphragmatic eventration as para-cardiac thoracic activity on myocardial perfusion imaging.

Diaphragmatic eventration is the elevation of hemi-diaphragm without any disruption to diaphragmatic continuity which can be congenital or acquired. The most common acquired cause is phrenic nerve paralysis due to traumatic causes and is usually incidentally diagnosed on chest radiograph or computed tomography. We hereby report a case of a patient who had road traffic accident with fracture of the left proximal femur. Stress Myocardial Perfusion Imaging (MPI) done for pre-operative clearance showed an incidental tracer avidity adjoining to left myocardium in the thorax. It was confirmed on anatomical imaging to be gastric cavity uptake due to diaphragm eventration.

Comparison of short-term outcomes of video-assisted thoracoscopic (VATS) plication of diaphragmatic eventration - a six-year prospective cohort study.

Diaphragmatic eventration is one of the rarest conditions characterized by elevation of the hemidiaphragm while maintaining its normal attachments. In recent years, video-assisted thoracoscopic surgery (VATS) has gained popularity for diaphragmatic surgery. In this study, we share our experience over six years with VATS plication of diaphragmatic eventration. We conducted a prospective study at our institute for six years from April 2016 to March 2021, which included 37 symptomatic patients with diaphragmatic eventration. The sample size reported in this study is one of the largest to date for VATS diaphragmatic plication. Of these, 18 patients underwent combined stapler and suture plication, and 19 patients underwent single modality approach (10-stapled resection, 9-suture alone plication). All patients were followed-up for a minimum of 2 years. Comparative analysis of the combined approach and the single modality approach was performed. The mean operative time was significantly longer with the combined approach (p value < 0.01). However, there was no difference in postoperative pain (p value = 0.50), analgesia requirement (p value = 0.72), or pleural drainage (p value = 0.32) between the two approaches. Although not statistically significant, the combined approach had fewer post-operative complications (p value = 0.32). Besides, the Single modality approach resulted in one recurrence (p value = 0.32) and one mortality (p value = 0.32). VATS diaphragmatic plication using staplers and/or sutures is safe and efficacious in the management of diaphragmatic eventration. Surgeons should consider using both staplers and sutures whenever possible, rather than selecting one over the other.

Laparoscopic approach in the management of diaphragmatic eventration in adults: gastrointestinal surgical perspective.

The current literature is poor with studies handling the role of laparoscopy in managing diaphragmatic eventration (DE). Herein, we describe our experience regarding the role of laparoscopy in managing DE patients presenting mainly with gastrointestinal symptoms. We retrospectively reviewed the data of 20 patients who underwent laparoscopic diaphragmatic plication between January 2010 and December 2018. Postoperative outcomes and quality of life were assessed. Most DEs were left sided (95%). Laparoscopic diaphragmatic plication was possible in all patients, along with correcting all associated gastrointestinal and diaphragmatic problems. The former included gastric volvulus (60%), reflux esophagitis (25%), cholelithiasis (5%), and pyloric obstruction (5%), while the latter included diaphragmatic and hiatus hernia (10% and 15%, respectively).The average operative time was 142 min. All patients had a regular (reviewer #1) postoperative course except for one who developed hydro-pneumothorax. At a median follow-up of 48 months, midterm outcomes were satisfactory, with an improvement (reviewer #1) in gastrointestinal symptoms. Three patients (reviewer #1) developed radiological recurrence without significant clinical symptoms. Patient's quality of life, including all parameters, significantly improved after the laparoscopic procedure compared to the preoperative values. Laparoscopic approach is safe and effective for managing adult diaphragmatic eventration (reviewer #1).

Chronic gastric volvulus with diaphragmatic eventration: Case presentation.

INTRODUCTION AND IMPORTANCE: Gastric volvulus is a rare clinical entity which occurs due to the rotation of the stomach and can have life-threatening complications. This condition can have an acute or chronic presentation and its symptoms will vary according to the degree of obstruction and rapidity of onset. CASE PRESENTATION: We report a case of a 84-year-old male with history of frequent periods of constipation and lack of appetite who presented to the emergency room with left-sided abdominal pain and distension and persistent nausea, without the ability to vomit. Abdominal radiograph, computed tomography scan of the abdomen, contrast-enhanced examination and upper endoscopy were consistent with a gastric volvulus secondary to diaphragmatic eventration. The patient's symptoms resolved after nasogastric tube placement and fluid resuscitation. However, he was proposed to a laparoscopic anterior gastropexy to prevent symptom recurrence. He remains asymptomatic after 3 years of follow-up. CLINICAL DISCUSSION: The diagnosis of gastric volvulus is based mainly on clinical presentation and abdominal imaging. The main principles of surgical intervention include stomach decompression with volvulus reduction, followed by gastropexy and correction of any predisposing intra-abdominal factors. CONCLUSION: Definitive treatment of both acute and chronic gastric volvulus includes a surgical approach. Laparoscopic anterior gastropexy has been found to be a viable alternative in these patients.

An exceptional cause of dyspnea: The uncommon case report of the association between Chilaiditi syndrome and diaphragmatic eventration.

INTRODUCTION AND IMPORTANCE: Chilaiditi's syndrome, characterized by the abnormal positioning of the intestine between the diaphragm and liver, and diaphragmatic eventration, a condition marked by the permanent elevation of one side of the diaphragm, are both exceedingly uncommon medical conditions. Their co-occurrence is even rarer, with only a handful of documented cases in medical literature. CASE PRESENTATION: A 71-year-old male patient initially presented with shortness of breath and was subsequently diagnosed with both Chilaiditi's syndrome and diaphragmatic eventration. His medical history included episodes of abdominal pain, constipation, and a prior colonoscopy that revealed no abnormal findings. Thorough physical examinations and imaging studies confirmed these diagnoses, and the patient's treatment was conservatively managed with intravenous fluids and laxatives, resulting in a significant improvement in his symptoms. Subsequent regular follow-up assessments showed no recurrence of symptoms. CLINICAL DISCUSSION: Chilaiditi's sign/syndrome is a rare condition involving colon interposition between the liver and diaphragm, often diagnosed incidentally during imaging. It mainly affects older men and can cause abdominal symptoms. Management is typically conservative, but surgery may be needed if symptoms persist or complications arise, especially in cases of colonic volvulus or ischemia. When encountering diaphragmatic air, consider a differential diagnosis to avoid unnecessary surgery. Simultaneous hepatodiaphragmatic colonic interposition and diaphragmatic eventration is extremely rare, with uncertain causation. CONCLUSION: This case highlights the rarity of the combination of Chilaiditi's syndrome and diaphragmatic eventration. Conservative management led to a significant improvement in symptoms, underscoring the importance of early recognition to prevent complications.

Case report: repair of eventration of the diaphragm in an octogenarian.

Eventration of the diaphragm is a cephalad displacement of the diaphragm because of congenital or acquired causes. The diaphragm maintains its anatomical continuity and normal attachments. It may be partial or complete and unilateral or bilateral. Most adult presentations are asymptomatic, but patients may present with respiratory, gastrointestinal, or cardiac symptoms. Surgical repair is indicated in the symptomatic patient with the most common being diaphragmatic plication. We present surgical repair of a symptomatic left diaphragmatic eventration in an octogenarian.

Right hemi diaphragmatic eventration - A rare post SARS-COV-2 infection complication.

Diaphragm eventration is a rare permanent abnormal elevation of diaphragmatic muscles. They are rare entities with right-sided eventration occurring rarer still. We present a case of a 69-year-old male with right-sided hemidiaphragmatic eventration and post-COVID 19 pulmonary fibrotic changes.

Congenital Diaphragmatic Eventration in the Neonatal Period: Systematic Review of the Literature and Report of a Rare Case Presenting with Gastrointestinal Disorders.

BACKGROUND: The term congenital diaphragmatic eventration (CDE) refers to an anatomical abnormality of the diaphragm. It is a very rare condition; however, early and prompt diagnosis is of very great importance due to possible life-threatening complications. Most severely affected patients are neonates, usually presented with respiratory distress symptoms. The aim of this study was to systematically review the existing literature and to consolidate data on CDE in neonates as well as to report a case of a neonate with congenital diaphragmatic eventration of the left hemidiaphragm and clinical signs and symptoms of the gastrointestinal tract. METHODS: An electronic search of the PubMed and Scopus databases was performed regarding studies evaluating the clinical presentation, diagnosis methods, treatments, and outcomes of CDE in the neonatal population. RESULTS: Data from 93 studies were integrated into our review, reporting 204 CDE cases, and according to them, the male/female ratio was 1/1 with a predominance of right-sided eventration. The diagnosis was primarily established by chest X-ray; surgical intervention was the most frequent treatment. The recurrence rate was 8.3% (9/109 cases). CONCLUSIONS: Early and accurate diagnosis of CDE and repair of the diaphragm can prevent complications, reduce morbidity, and improve the quality of patient's life.

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

BACKGROUND: Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly. CASE PRESENTATION: We 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. CONCLUSION: Eventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.

Plication for diaphragm paralysis after paediatric cardiac surgery: a single-centre experience.

OBJECTIVE: Diaphragm paralysis is a well-known complication following surgery for CHDs, which increases morbidity, mortality, and length of hospital stay as well as costs. Herein, we present our experience with diaphragm plication following paralysis of the phrenic nerve encountered after paediatric cardiac surgery. METHODS: This study retrospectively reviewed the medical records of 23 diaphragm plications in 20 patients who underwent paediatric cardiac surgery between January 2012 and January 2022. The patients were carefully selected based on aetiology and a combination of clinical manifestation and chest imaging characteristics including chest X-ray, ultrasonography, and fluoroscopy. RESULTS: Twenty-three successful plications were performed in 20 patients (15 males and 5 females) out of a total of 1938 operations performed in our centre. Mean age and body weight were 18.2 ± 17.1 months and 8.3 ± 3.7 kg, respectively. The period between the cardiac surgery and diaphragmatic plication was 18.7 ± 15.1 days. The highest incidence of diaphragm paralysis was encountered in systemic to pulmonary artery shunt patients with 7 out of 152 patients (4.6%). Any mortality was not encountered during a mean follow-up period of 4.3 ± 2.6 years. CONCLUSIONS: Early results of plication of the diaphragm following phrenic nerve palsy in symptomatic patients who underwent paediatric cardiac surgery are encouraging. Evaluation of the diaphragmatic function should be a routine part of post-operative echocardiography. Diaphragm paralysis may be a consequence of dissection, contusion, stretching, and thermal injury both in terms of hypothermia and hyperthermia.

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Ryanodine receptor type 1-related disorder (RYR1-RD) is the most common subgroup of congenital myopathies with a wide phenotypic spectrum ranging from mild hypotonia to lethal fetal akinesia. Genetic testing for myopathies is imperative as the diagnosis informs counseling regarding prognosis and recurrence risk, treatment options, monitoring, and clinical management. However, diagnostic challenges exist as current options are limited to clinical suspicion prompting testing including: single gene sequencing or familial variant testing, multi-gene panels, exome, genome sequencing, and invasive testing including muscle biopsy. The timing of diagnosis is of great importance due to the association of RYR1-RD with malignant hyperthermia (MH). MH is a hypermetabolic crisis that occurs secondary to excessive calcium release in muscles, leading to systemic effects that can progress to shock and death if unrecognized. Given the association of MH with pathogenic variants in RYR1, a diagnosis of RYR1-RD necessitates an awareness of medical team to avoid potentially triggering agents. We describe a case of a unique fetal presentation with bilateral diaphragmatic eventrations who had respiratory failure, dysmorphic facial features, and profound global hypotonia in the neonatal period. The diagnosis was made at several months of age, had direct implications on her clinical care related to anticipated need to long-term ventilator support, and ultimately death secondary an arrhythmia as a result of suspected MH. Our report reinforces the importance of having high suspicion for a genetic syndrome and pursuing early, rapid exome or genome sequencing as first line testing in critically ill neonatal intensive care unit patients and further evaluating the pathogenicity of a variant of uncertain significance in the setting of a myopathic phenotype.

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.

Idiopathic megacolon complicated by life-threatening giant megacolon and respiratory failure due to diaphragmatic eventration: A case report.

INTRODUCTION AND IMPORTANCE: Giant megacolon requiring emergency surgery is rare. Eventration of the diaphragm associated with giant megacolon is also uncommon. CASE PRESENTATION: We report a 66-year-old male who presented with abdominal distention and progressive dyspnea. After resuscitation following cardiopulmonary arrest, the patient underwent emergent subtotal abdominal colectomy. Eventration of the diaphragm was found postoperatively and his respiratory condition was insufficient to allow liberation. Plication of both diaphragms was performed through left and right thoracotomy via the 8th intercostal space. Postoperatively the patient made a full recovery. CLINICAL DISCUSSIONS: Chronic constipation is a common health condition. A life-threatening condition secondary to chronic constipation is a rarely documented complication. Diaphragmatic eventration that was caused due to chronic megacolon in symptomatic patients requires surgical treatment. CONCLUSIONS: We describe a patient with giant megacolon and diaphragmatic eventration secondary to idiopathic megacolon. The patient underwent subtotal colectomy and diaphragmatic plication and recovered fully.

High insertion of the right diaphragm complicated with congenital diaphragmatic hernia: A case report of rare thoracoscopic findings.

We encountered a case of high insertion of the right diaphragm complicated with congenital diaphragmatic hernia that was diagnosed based on thoracoscopic findings. A full-term male baby was suspected of having right congenital diaphragmatic hernia or diaphragmatic eventration on postnatal imaging. He only had episodes of mild but prolonged symptoms following upper respiratory tract infection and his course was otherwise uneventful during outpatient monitoring. At 1 year old, the elevated liver volume remained large, which might eventually interfere with his lung growth, so thoracoscopic exploration was planned. Thoracoscopy revealed liver prolapse from a diaphragmatic defect. In addition, the anterior to lateral inserted part of the diaphragm was high, with the anterior part reaching the fourth rib. We repaired only the diaphragmatic defect without repositioning the diaphragm, and the postoperative course was uneventful. High insertion of the diaphragm should be considered as a differential diagnosis of congenital diaphragmatic eventration.

The most severe form of LMNA-associated congenital muscular dystrophy.

Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade of life are rare. We report a case of LMNA-associated congenital muscular dystrophy in which the patient did not achieve head control and experienced facial muscle weakness. Cardiac dysrhythmias were observed at 5 years with development of dilated cardiomyopathy and ischemic strokes at 7 years. Despite intensive medical intervention, he died suddenly at 9 years. This report broadens the spectrum of phenotypes of this disorder with the most severe symptoms during the first decade of life. Our case underscores the need for early genetic testing for LMNA in patients with congenital muscular dystrophy to screen for cardiac manifestations and intervene as necessary.

Intractable Hiccups Caused by Diaphragmatic Eventration.

Intractable hiccups are a rare yet debilitating pathology with a broad differential and often indicate a more serious underlying pathology, which can range from neoplasms to structural abnormalities. In this case report, we present a 64-year-old male with seven months of intractable hiccups determined to be caused by eventration of the right hemidiaphragm. The patient was treated with baclofen to treat the hiccups pharmacologically. He was also prescribed voice therapy to establish rescue breathing techniques and reduce laryngospasm. Finally, he was referred to thoracic surgery for further evaluation and potential surgical intervention should his diaphragmatic eventration worsen or cause hypoxemia. To our knowledge, this is the first reported case of an association between diaphragmatic eventration and intractable hiccups. It is important to highlight this addition to the broad differential of intractable hiccups and to emphasize an interdisciplinary approach to workup and treatment of intractable hiccups.