Diaphragmatic Eventration Misdiagnosed as Diaphragmatic Hernia in a Preterm Infant

Bishara, John; Burjonrappa, Sathyaprasad; Pirzada, Melodi; Halaby, Claudia

doi:10.1378/chest.2243317

Cited by 2 publications

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“…The inadequate muscularization of part of or the entire hemidiaphragm is presented as diaphragmatic eventration, and the most acceptable theory for the etiology of this condition is the altered myoblast migration to the septum transversum and the pleuroperitoneal membrane [ 23 ]. The muscular segment of the diaphragm in the microscope seems to be sparsely distributed and nonfunctional but not atrophic [ 1 , 6 , 24 ]. The characteristic element in the histological examination of the diaphragm is the lack of muscular fibers and diffuse fibroelastic changes [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

“…Clinical presentation of eventration of the diaphragm varies in severity, and the patients often appear to be asymptomatic. In most of the reported cases in the literature, clinical presentation occurred mainly with respiratory distress (tachypnoea, dyspnea, decreased breath sounds, paradoxical movement of the chest), cyanosis, cardiac symptoms, and gastrointestinal symptoms such as vomiting, anorexia, nausea, bowel sounds into the thoracic cavity, scaphoid abdomen, and abdominal pain [ 6 , 11 , 13 , 15 ]. During the neonatal period, respiratory symptoms dominate, and this finding is in line with our review results.…”

Section: Discussionmentioning

confidence: 99%

“…The mortality rate was found to be 28% in our literature review, but it probably could be attributed to coexisting morbidities. Whenever the clinical presentation is delayed, the prognosis is usually better, and this fact may be attributed to absent or mild lung hypoplasia [ 6 , 36 ].…”

Section: Discussionmentioning

confidence: 99%

“…CDE could also present secondarily to congenital viral infections such as rubella and cytomegalovirus infection that cause destruction of the muscular tissue and replacement with membranous diaphragm [ 3 , 4 ]. Eventration can also be associated with other anomalies such as cerebral agenesis, congenital heart disease, tracheomalacia, cleft palate, malrotation, Meckel’s diverticulum, renal ectopia, and Werdnig–Hoffmann disease [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

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

Konstantinidi,

Liakou,

Kopanou Taliaka

et al. 2023

Pediatric Reports

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Konstantinidi,

Liakou,

Kopanou Taliaka

et al. 2023

Pediatric Reports

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Physiological pulmonary assessments in the management of bilateral diaphragmatic eventration

Thodika

Williams

Dassios

et al. 2022

Case Reports in Perinatal Medicine

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Objectives To describe the importance of comprehensive assessment to determine the underlying diagnosis and the role of physiological pulmonary measurements in the management of congenital bilateral eventration of the diaphragm. Case presentation A female infant born at 34 weeks gestation required intubation and ventilation at birth. Chest radiographical imaging revealed bilateral density to the bases of both lung fields with raised hemi-diaphragms. Ultrasound imaging showed focal diaphragmatic eventration with bulging of the dome of the liver into the right and left hemithoraces. Assessment of the electrical activity of the diaphragm during a spontaneous breathing trial demonstrated a mean amplitude consistent with that of ventilated infants of the same gestational age with intact diaphragms. Hence she was extubated which was successful. Chest radiographic thoracic area measured post extubation was 1,654 mm2, equivalent to that of a term infant with severe congenital diaphragmatic hernia. As the electrical activity of the diaphragm was normal this suggests replacement of the diaphragmatic muscle tissue with fibrous bands was likely to be only partial, and hence why extubation was successful. She had other abnormalities presenting in the neonatal period including dermal melancytosis, central hypotonia, hyperinsulinism and poor feeding. The infant underwent extensive investigation which revealed a KMT2D gene mutation associated with Kabuki syndrome. Conclusions Physiological pulmonary measurements may add clinical management in bilateratal diaphragmatic eventration.

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Diaphragmatic Eventration Misdiagnosed as Diaphragmatic Hernia in a Preterm Infant

Cited by 2 publications

References 0 publications

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

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

Physiological pulmonary assessments in the management of bilateral diaphragmatic eventration

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