diaphragmatic eventration

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...

Acute gastric volvulus is a surgical emergency and is known to occur secondary to diaphragmatic hernia and eventration. Adult presentation of congenital diaphragmatic hernia is rare, with an estimated incidence of around 0.17%, and pregnancy may predispose to the development of symptoms due to increased intra-abdominal pressure. Pregnancy complicated by diaphragmatic hernia is associated with a high risk of maternal and fetal mortality, necessitating timely diagnosis and treatment. We present the case of a 23-year-old female presenting with a symptomatic left Bochdalek hernia complicated by organo-axial gastric volvulus during her second trimester (27 weeks)...

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...

INTRODUCTION: A congenital intrathoracic kidney (ITK) is a rare anomaly that is recognized to have four causes: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. We report a case of a prenatal-diagnosed ITK related to a congenital diaphragmatic hernia (CDH) and conducted a systematic review of all cases of the prenatal diagnosis of this association. CASE PRESENTATION: A fetal ultrasound scan at 22 gestational weeks showed left CDH and ITK, hyperechoic left lung parenchyma, and mediastinal shift...

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...

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...

INTRODUCTION AND IMPORTANCE: Congenital diaphragmatic hernias (CDH) affect variable portions of diaphragm, resulting in herniation of abdominal contents into the chest. CDH typically is diagnosed prenatally or presents soon after birth with respiratory distress and abnormal chest X-ray (CXR) findings. Presentation after infancy is rare but well described. We present a case of delayed presentation of a right CDH following left CDH repair. CASE PRESENTATION: An 18-month-old boy with a history of a left CDH repaired in the newborn period presented with a newly elevated right hemidiaphragm presumed to be an eventration...

INTRODUCTION: 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. MATERIALS AND METHODS: A retrospective study was conducted in the department of paediatric surgery at a tertiary centre...

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...

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...

Aldehyde Dehydrogenase 1, Family Member A2 (ALDH1A2) is essential for the synthesis of retinoic acid from vitamin A. Studies in model organisms demonstrate a critical role for ALDH1A2 in embryonic development, yet few pathogenic variants are linked to congenital anomalies in humans. We present three siblings with multiple congenital anomaly syndrome linked to biallelic sequence variants in ALDH1A2. The major congenital malformations affecting these children include tetralogy of Fallot, absent thymus, diaphragmatic eventration, and talipes equinovarus...

INTRODUCTION: Emphysematous pyelonephritis (EP) is a life-threatening renal disease requiring early and immediate therapy. EP resulting in tubercular empyema is unusual, with no reports to date. PRESENTATION OF CASE: A 50-year-old female in sepsis diagnosed with diabetes mellitus on insulin presented with recurrent abdominal pain radiating to the left side of her back for one month and recurrent episodes of vomiting and fever for one week. Her contrast-enhanced computed tomography showed emphysematous pyelonephritis (EP), ruptured splenic abscess, disrupted and eventrated left diaphragmatic lining, pleuroperitoneal communication, and a left empyema...

No abstract text is available yet for this article.

Extreme mediastinal shift due to major diaphragm eventration is complex when mitral-valve repair is required. We report the case of a 59-year-old woman with diaphragmatic eventration who had 2 recent episodes of heart failure due to arrythmia associated with severe mitral-valve regurgitation (regurgitant orifice area 47 mm2). Forced expiratory flow-volume in the first second and vital capacity (VC) were at 32% and 33%, respectively,decreasing to 20% and 30% when she was in a supine position. We found it impossible to repair the valve first because of the extreme mediastinal shift and respiratory dysfunction...

A 14-week infant, with respiratory distress since birth, was referred to our institution. Chest radiography and ultrasonographic examination confirmed right-sided diaphragmatic eventration. Owing to difficulty in securing a peripheral venous access, a double-lumen 4-Fr central venous catheter (CVC) was inserted into the right internal jugular vein, under ultrasonographic guidance. Aspiration of blood from both ports confirmed intravascular placement. A frontal radiograph done after the procedure showed the catheter tip in the right atrium, hence it was withdrawn to a level just below the carina...

No abstract text is available yet for this article.

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...

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...

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...

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...