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African Journal of Paediatric Surgery :... 2021The descriptive clinical study was conducted to analyse the clinical profile as well as the outcome of congenital right diaphragmatic defects among children including... (Observational Study)
Observational Study
BACKGROUND
The descriptive clinical study was conducted to analyse the clinical profile as well as the outcome of congenital right diaphragmatic defects among children including neonates in a tertiary care referral neonatal and paediatric centre in southern Karnataka, India.
MATERIALS AND METHODS
This retrospective and prospective observational clinical study was conducted from January 2005 to August 2019, over a period of 14.7 years in a tertiary care referral neonatal and paediatric centre. Clinical characteristics and risk factors of 33 children including neonates admitted and diagnosed with congenital right diaphragmatic defects were assessed both pre- and postoperatively. Neonates and children with acquired right diaphragmatic hernia defects and the left-sided diaphragmatic defects were not included in this clinical study.
RESULTS
For statistical as well as clinical analysis, 33 study subjects were grouped into four groups, depending on the pre-operative and intraoperative findings as well as on their final diagnosis. Group I comprised right congenital diaphragmatic hernia (RCDH) (n = 18), Group II comprised RCDH with sac (n = 6), the babies with diagnosis of right diaphragmatic eventration were included in Group III (n = 7), whereas babies with other right-sided diaphragmatic hernia defects diagnosis were included in Group IV (n = 2).
CONCLUSION
Right-sided congenital diaphragmatic defects, though rare, do carry excellent survival if referred early and managed in a tertiary care neonatal and paediatric centre as that of left diaphragmatic defects.
Topics: Child; Hernias, Diaphragmatic, Congenital; Humans; India; Infant; Infant, Newborn; Retrospective Studies
PubMed: 34341195
DOI: 10.4103/ajps.AJPS_29_20 -
Cureus Apr 2022Intractable hiccups are a rare yet debilitating pathology with a broad differential and often indicate a more serious underlying pathology, which can range from...
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.
PubMed: 35637802
DOI: 10.7759/cureus.24430 -
International Journal of Surgery Case... Jul 2022Giant megacolon requiring emergency surgery is rare. Eventration of the diaphragm associated with giant megacolon is also uncommon.
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.
PubMed: 35809478
DOI: 10.1016/j.ijscr.2022.107372 -
Journal of Medical Case Reports Apr 2023Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly.
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.
Topics: Female; Infant; Humans; Diaphragmatic Eventration; Cleft Palate; Atrial Fibrillation; Diaphragm; Heart Septal Defects, Atrial; Hernias, Diaphragmatic, Congenital
PubMed: 37081543
DOI: 10.1186/s13256-023-03910-4 -
Lung India : Official Organ of Indian... 2016Although diaphragmatic anomalies such as an eventration and hiatus hernia are commonly encountered in incidental chest X-ray imaging, the presence of concomitant...
Although diaphragmatic anomalies such as an eventration and hiatus hernia are commonly encountered in incidental chest X-ray imaging, the presence of concomitant multiple anomalies is extremely rare. This is all the more true in adults. Herein, we present the case of a 75-year-old female, while undergoing a routine chest X-ray imaging, was found to have eventration of right hemidiaphragm along with a hiatus hernia as well.
PubMed: 27625457
DOI: 10.4103/0970-2113.188985 -
Annals of the Royal College of Surgeons... Sep 2017Diaphragmatic eventration is an uncommon condition, usually discovered incidentally in asymptomatic patients. Even in symptomatic patients, the diagnosis can be... (Review)
Review
Diaphragmatic eventration is an uncommon condition, usually discovered incidentally in asymptomatic patients. Even in symptomatic patients, the diagnosis can be challenging and should be considered among the differential diagnoses of diaphragmatic hernia. The correct diagnosis can often only be made in surgery. We describe the case of a 31-year-old patient with diaphragmatic eventration that was misdiagnosed as a recurrent congenital diaphragmatic hernia and review the corresponding literature.
Topics: Adult; Diagnosis, Differential; Diagnostic Errors; Diaphragmatic Eventration; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Male; Radiography; Recurrence; Tomography, X-Ray Computed
PubMed: 28853592
DOI: 10.1308/rcsann.2016.0342 -
Journal of Indian Association of... Jan 2008We evaluated patients with gastric volvulus secondary to diaphragmatic pathology.
AIM
We evaluated patients with gastric volvulus secondary to diaphragmatic pathology.
MATERIALS AND METHODS
Eight patients (5 males and 3 females) presented to the author in a tertiary care center during 1997-2006 were analyzed in terms of age, sex, symptomatology, diagnosis and predisposing factors.
OBSERVATIONS
Six had an acute presentation and rest had chronic symptomatology. The two patients who had total gangrene stomach died postoperatively and one patient died preoperatively due to aspiration. All the cases presented with acute symptoms had diaphragmatic pathology, and out of these, three cases had the specific entity, which is named as diaphragmatic crural eventration.
CONCLUSIONS
Diaphragmatic crural eventration is characterized by the defective development of the right crus of diaphragm, and this is embryologically significant as the right crus and ligaments of the stomach develop from dorsal mesoesophagus and mesogastrium. The author recommends a closer look for this defect of diaphragm while operating a case of gastric volvulus.
PubMed: 20177481
DOI: 10.4103/0971-9261.42568 -
Pediatric Research Jan 2019Congenital diaphragmatic hernia (CDH) is a commonly occurring major congenital anomaly with a profound impact on neonatal mortality. The etiology of CDH is poorly... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a commonly occurring major congenital anomaly with a profound impact on neonatal mortality. The etiology of CDH is poorly understood and is complicated by multiple clinical presentations, reflecting the location and type of diaphragm defect. With the increased power of genetic screening, more genes are being associated with CDH, creating a knowledge gap between CDH-associated genes and their contribution to diaphragm embryogenesis. Our goal was to investigate CDH-associated genes and identify common pathways that may lead to abnormal diaphragm development. A comprehensive list of CDH-associated genes was identified from the literature and categorized according to multiple factors, including type of CDH. We undertook a large-scale gene function analysis using gene ontology to identify significantly enriched biological pathways and molecular functions associated with our gene set. We identified 218 CDH-associated genes. Our gene ontology analysis showed that genes representing distinct biological pathways are significantly enriched in relation to different clinical presentations of CDH. This includes retinoic acid signaling in Bochdalek CDH, myogenesis in diaphragm eventration, and angiogenesis in central tendon defects. We have identified unique genotype-phenotype relationships highlighting the major genetic drivers of the different types of CDH.
Topics: Gene Expression Regulation; Gene Ontology; Gene Regulatory Networks; Genetic Markers; Genetic Predisposition to Disease; Hernias, Diaphragmatic, Congenital; Humans; Phenotype; Signal Transduction
PubMed: 30287891
DOI: 10.1038/s41390-018-0192-8 -
Pediatric Reports Jul 2023The term congenital diaphragmatic eventration (CDE) refers to an anatomical abnormality of the diaphragm. It is a very rare condition; however, early and prompt...
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.
PubMed: 37606445
DOI: 10.3390/pediatric15030041 -
Lung India : Official Organ of Indian... Jan 2024
PubMed: 38160467
DOI: 10.4103/lungindia.lungindia_459_23