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Introduction: Congenital diaphragmatic eventration (CDE) is defined as the abnormal elevation of the diaphragm, due to incomplete muscularization of the diaphragm with a thin membranous sheet replacing normal diaphragmatic muscle. Case report: We report a prenatal case with a diaphragmatic mesothelial cyst combined with CDE. Conclusion: A large cystic mass between the thoracic wall and the liver in early pregnancy is highly suggestive of cystic diaphragm.
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Diafragma/anomalías , Diafragma/embriología , Eventración Diafragmática/diagnóstico , Adulto , Anomalías Congénitas , Diagnóstico Diferencial , Epitelio/patología , Femenino , Feto , Humanos , Hígado/embriología , Masculino , Embarazo , Diagnóstico Prenatal , Pared Torácica/embriología , UltrasonografíaRESUMEN
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.
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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.
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Eventración Diafragmática , Síndrome de Frasier , Niño , Humanos , Síndrome de Frasier/genética , Pulmón , Mutación , Proteínas WT1/genéticaRESUMEN
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.
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Lamina Tipo A , Distrofias Musculares , Humanos , Lamina Tipo A/genética , Masculino , Debilidad Muscular/etiología , Distrofias Musculares/complicaciones , Distrofias Musculares/genética , Mutación , FenotipoRESUMEN
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. The perioperative characteristics and follow-up details after diaphragm plication were compared between the two groups. Results: Among 77 children with CDE, 44 cases were in the thoracoscopic plication group and 33 cases were in the modified small incision plication group. All the cases of CDE were unilateral, with 13 cases on the left side and 64 cases on the right side. There were no differences in the preoperative characteristics between the two groups. The modified small incision plication group had a higher bleeding volume (P = .000) and a greater proportion of patients needing chest drainage (P = .000), whereas the differences in the total and postoperative hospital stays (P = .088, P = .247, respectively) did not significantly differ between the two groups. There were no differences in postoperative improvement in the location of the diaphragm between the two groups or between the right and left lesions (P = .438, P = .677, respectively). The total follow-up time was 2-11 years. No recurrence was reported during this period in either of the groups, but the incidence of postoperative thoracic deformities was higher in the modified small incision plication group (P = .013). Conclusions: Compared with the modified small incision plication, thoracoscopic plication has the advantages of smaller blood loss, a low percentage of intrathoracic drainage tube usage, and no occurrence of thoracic deformities.
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Eventración Diafragmática , Niño , Diafragma/cirugía , Eventración Diafragmática/cirugía , Humanos , Tempo Operativo , Recurrencia , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
INTRODUCTION: Congenital diaphragmatic eventration is characterized by the elevation of the diaphragm, causing a protrusion of the intraabdominal viscera into the affected hemithorax and resulting in respiratory distress. Diaphragmatic eventration with an intrathoracic ectopic kidney is a very rare disorder with the incidence of 0.25% of all ectopias. PRESENTATION OF CASE: A 16-day-old male presented with chief complaint of respiratory distress. His plain chest X-ray showed intestinal gases in the right diaphragm and elevation of the right diaphragm. Intraoperative findings revealed elevation of the right diaphragmatic dome and visceral displacement, including the ileum, transverse colon, and right lobe of the liver. Subsequently, hemidiaphragm plication was conducted. Two weeks after surgery, the patient suffered from respiratory distress again. Computed tomography (CT) scanning revealed right diaphragmatic elevation and an ectopic kidney inside the right hemithorax. During the second operation, there were no longer elevation of the right diaphragmatic dome nor any other organ displacement. Moreover, we decided to let the intrathoracic kidney remain in place. The outcome was good during the postoperative period and six months after surgery. DISCUSSION: Eventration of diaphragm with an intrathoracic ectopic kidney should be considered as a differential diagnosis in neonate patients with respiratory distress accompanied by a thoracic mass. CONCLUSION: Congenital diaphragmatic eventration with an intrathoracic ectopic kidney is a very rare disorder, requiring a personalized surgical repair to achieve a good outcome. CT scanning may help confirm the diagnosis, particularly to define the dome elevation and the intrathoracic organ precisely.
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Intrathoracic gastric volvulus in neonatal period is a life-threatening surgical emergency. We report a case of neonate with respiratory distress and GI bleeding who was diagnosed to have congenital diaphragmatic eventration with Intrathoracic gastric volvulus.
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We present a case of two-year old boy with solitary atypical adenomatous hyperplasia (AAH) in extralobar sequestration (ELS), which was misdiagnosed as diaphragmatic hernia before surgery. Review of AAH and pulmonary sequestration (PS) revealed that the present case is the youngest of solitary AAH and also the first report of solitary AAH arising in ELS without a primary lung cancer. In a sense, the present case firstly supports the hypothesis that ELS may be an underlying cancer predisposition syndrome, so aggressive surgical therapy should be recommended for ELS.
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Neoplasias Pulmonares/diagnóstico , Preescolar , Humanos , Hiperplasia/diagnóstico , Pulmón/patología , Masculino , Lesiones Precancerosas/diagnósticoRESUMEN
@#Objective To compare and analyze the treatment effect of thoracoscopic surgery and traditional open surgery on infants with congenital diaphragmatic eventration, and summarize the experience of thoracoscopic surgery in infants with congenital diaphragmatic eventration. Methods We retrospectively analyzed the clinical data of 105 children with congenital diaphragmatic eventration who received operation in the Department of Cardiothoracic Surgery of Children’s Hospital of Chongqing Medical University from January 2010 to January 2019. The patients were divided into an open group and a thoracoscopic group according to the operation methods. There were 41 patients in the thoracoscopic group, including 30 males and 11 females, with an average of 13.42±11.08 months (range: 1 d to 3 years). There were 64 patients in the open group, including 44 males and 20 females, with an average age of 8.21±9.33 months (range: 15.0 d to 1.6 years). The operation time, intraoperative bleeding volume, postoperative mechanical ventilation time, hospital stay and other operation indexes as well as the mortality, recurrence rate and complication rate of the two groups were observed. Results The operation indexes such as operation time, intraoperative bleeding volume, postoperative mechanical ventilation time, thoracic drainage time, CCU stay and hospital stay of the thoracoscopic group were better than those in the open group (P<0.05). There was no statistical difference between two groups in postoperative diaphgram muscles descent, postoperative feeding time or patients needing thoracic drainage (P>0.05). The incidence of postoperative complications in the thoracoscopic group (19.51%) was lower than that in the open group (23.44%, P>0.05), and the difference in mortality and recurrence rate between the two groups was not statistically significant (P>0.05). Conclusion Both thoracoscopic diaphragmatic plication and traditional open surgery can effectively treat congenital diaphragmatic eventration, but compared with traditional open surgery, thoracoscopic diaphragmatic plication has the advantages of shorter operation time, less trauma, more rapid recovery and fewer complications, so it should be the first choice for children with congenital diaphragmatic eventration.
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OBJECTIVE: This study sought to summarize the diagnostic and treatment aspects of congenital diaphragmatic eventration (CDE) in children by retrospectively analyzing their medical records to identify and understand the complications of CDE, its treatment, and to evaluate the long-term outcomes of diaphragmatic plication. METHODS: The medical records of children who received treatment for CDE from January 2000 to December 2011 at the Children's Hospital of Chongqing Medical University, China were analyzed. Data analyzed included the following: age, sex, symptom, location of eventration, associated anomalies, surgical procedures, complications, and survival and follow up details after diaphragmatic plication. RESULTS: The medical records of 177 children (boys: 128, girls: 49, mean age: 10.28±2.35 months) with CDE were included in this study. Specific symptoms of eventration of the diaphragm were reported for 86 cases; and the typical symptoms included rapid breathing, vomiting, and recurrent respiratory infections. Except for a bilateral case, all the other patients had unilateral CDE. Associated malformations were observed in 31 cases (17.5%), hypoplastic lung (10 cases) was the most common followed by congenital heart disease (9 cases), and cryptorchidism (3 cases). Interestingly, 91 patients were asymptomatic. Diaphragmatic plication was performed in all symptomatic patients (86 cases, 48.5%) and none had recurrence. CONCLUSIONS: Clinical symptoms of CDE varied in severity, ranging from asymptomatic conditions to life-threatening respiratory distress. Timely accurate diagnosis and treatment of symptomatic CDE could effectively resolve respiratory morbidity and reduce complications. The diaphragm plication surgery provided good results among the study population with no recurrence.
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Eventración Diafragmática/complicaciones , Anomalías Múltiples , Adolescente , Enfermedades Asintomáticas , Niño , Preescolar , China , Criptorquidismo/complicaciones , Diafragma/cirugía , Eventración Diafragmática/cirugía , Disnea/etiología , Femenino , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Herniorrafia , Hospitales Pediátricos , Humanos , Lactante , Pulmón/anomalías , Masculino , Recurrencia , Estudios Retrospectivos , Vómitos/etiologíaRESUMEN
Focal eventration involving the posterior segment of the hemidiaphragm is a rare congenital anomaly. We report of a 10- day-old infant who presented with significant respiratory insufficiency and failure to show any responses to standard treatment. The diagnosis of focal eventration of the diaphragm was not anticipated until ultrasonographic examination revealed the defect. Diaphragmatic plication resulted in complete resolution of symptoms. A high level clinical awareness is crucial as a relatively simple surgical procedure could avert long term life-threatening complications.
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Lactante , Insuficiencia RespiratoriaRESUMEN
Congenital diaphragmatic eventration is defined as an abnormal elevation of the diaphragm resulting from developmental abnormality of muscle fibers during gestation. Differentiation between congenital diaphragmatic hernia (CDH) and eventration is very difficult but important for perinatal management and prognosis, because CDH is associated with higher perinatal and neonatal mortality. We describe a case that was initially diagnosed by prenatal sonography as a right CDH and later confirmed as a congenital diaphragmatic eventration after the delivery with a brief review of the literatures.
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Humanos , Lactante , Embarazo , Diafragma , Eventración Diafragmática , Hernia Diafragmática , Mortalidad Infantil , Músculos , PronósticoRESUMEN
Congenital diaphragmatic eventration is an abnormal elevation of the diaphragm as a result of developmental failure of muscular fibers during the fetal period. Mediastinal shift to the contralateral side may cause significant compression of the affected chest contents resulting in compromised pulmonary function especially when bilaterally involved. The differentiation between congenital diaphragmatic eventration and diaphragmatic hemia is very difficult but eventration has a better perinatal outcome compared to diaphragmatic hernia. We report a case of congenital diaphragmatic eventration on left side with good perinatal outcome after plication in which the initial prenatal diagnosis of diaphragmatic hernia was made by prenatal ultrasonography.