congenital diaphragmatic eventration

Diaphragmatic eventration (DE) is an abnormal condition where a portion or the entire hemidiaphragm elevates due to insufficient muscle or nerve function while maintaining its anatomical attachments. On the other hand, congenital diaphragmatic hernias occur due to the abnormal development of muscular entities of the diaphragm, resulting in the displacement of abdominal contents into the thorax. The difference between diaphragmatic hernia and eventration is important as there is no true defect in DE. Ruptured eventration of the diaphragm is a rare entity, with only three cases reported in adults in literature till date, all on the left side...

Morgagni hernia is a rare congenital defect of the diaphragm, especially seen in children but rarely observed in adults. It occurs due to a congenital defect during the development of the diaphragm. Bochdalek hernia is a common congenital form of diaphragmatic hernia. Morgagni hernia is usually rare with a prevalence of approximately 2-3%. Beaver tail liver, which is also called sliver of liver, is a rare variant of liver morphology. Sometimes elongated left lobe of the liver can extend laterally across the midline to contact and often surround the spleen...

OBJECTIVE: To study the perinatal outcome in fetuses diagnosed with congenital diaphragmatic hernia (CDH). METHODS: Thirty-two pregnant women with antenatal diagnosis of CDH in fetus, who delivered between 2018 and 2021, were included in the study. Postnatally eventration of diaphragm was diagnosed in 3 neonates and were excluded. RESULTS: The median gestational age at diagnosis was 23 weeks (IQR: 216-261 weeks). The mean O/E LHR was 34...

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...

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)...

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...

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...

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...

Diaphragmatic eventration is a rare condition, and its association with dextrocardia is even a rarer clinical entity. Patients are usually asymptomatic, but the typical features include rapid breathing and recurrent respiratory infections. Here we present a rare case of a seven months old infant, who presented with cough, noisy breathing and chest retraction. The patient was diagnosed to have dextrocardia with diaphragmatic eventration with pneumonia by chest imaging and was treated in coordination with the medical team for underlying pneumonia...

Congenital Diaphragmatic Eventration (DE) requires a prompt diagnosis to avert the potentially life-threatening complications. Herein, a 5-month-old male presented with recurrent respiratory infections due to a right-sided diaphragmatic eventration. Misdiagnosed from previous medical visits, timely surgical intervention by thoracoscopic plication of the diaphragm was crucial for our patient's survival.

Hydramnios is an excessive accumulation of fluid within the amniotic compartment. It is a rare condition in mares, often associated with fetal anomalies. Hydrops of fetal membranes predisposes to the rupture of the prepubic tendon, and many authors suggest the induction of parturition to preserve mare's reproductive career. This report presents the case of a 15-year-old multiparous Quarter Horse mare, referred at 268 days of gestation for suspected hydrops. Repeated ultrasonographic exams confirmed an increase in the depth of the amniotic fluid and reduced fetal viability...

Thoracoscopic plication for congenital diaphragmatic eventration in an adult. Diaphragmatic eventration is known to be abnormal elevation of diaphragm and congenital causes are due to abnormal diaphragm muscle development. Here we report surgical treatment of congenital diaphragmatic eventration. A 45-year-old woman who complained of cough was admitted to our hospital. She had history of cough and was diagnosed as diaphragmatic eventration in childhood. Chest X-ray showed elevated left hemidiaphragm with a bowel gas underneath...

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...