scholarly journals Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia

2017 ◽  
Vol 99 (7) ◽  
pp. e196-e199
Author(s):  
C Shwaartz ◽  
E Duggan ◽  
DS Lee ◽  
CM Divino ◽  
EH Chin
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Correct Diagnosis ◽  
Differential Diagnoses ◽  
Diaphragmatic Eventration ◽  
Asymptomatic Patients ◽  
Uncommon Condition ◽  
Made In

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.

scholarly journals Congenital right diaphragmatic hernia in an adult

2019 ◽  
Vol 2019 (12) ◽  
Author(s):  
Faisal Al-Zayer ◽  
Abdulla H Aljaroof ◽  
Maram Al-Marhoun ◽  
Basem Abualsaud ◽  
Mohammed Al-Zaher ◽  
...  
Keyword(s):  
Diaphragmatic Hernia ◽  
Rare Condition ◽  
Late Presentation ◽  
Postoperative Recovery ◽  
Gravid Uterus ◽  
Asymptomatic Patients ◽  
Uneventful Postoperative Recovery ◽  
The Right ◽  
Right Diaphragmatic Hernia ◽  
Made In

Abstract Diaphragmatic hernia in the absence of trauma in adults is very rare. It occurs as a result of unilateral diaphragmatic agenesis. The diagnosis of this rare condition is typically made in early infancy. However, in asymptomatic patients, the diagnosis is often delayed for months and even years. We present a case of a 27-year-old female, who was referred 48-hours after Caesarean section with suspected pulmonary embolism. Computed tomography scan revealed herniation of the liver as well as bowel loops into the right hemi-thorax. Exploration through a right thoracotomy revealed right diaphragmatic agenesis. The contents were reduced into the abdomen, and the defect was repaired using a mesh. The patient had an uneventful postoperative recovery and was discharged home 10 days later. This case highlights the acute late presentation of right diaphragmatic eventration with abdominal visceral herniation in adulthood. The condition may be triggered by the increasing size of gravid uterus.

scholarly journals Laparoscopic Repair of Congenital Diaphragmatic Hernia in Adults

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Sanjay Kumar Saroj ◽  
Satendra Kumar ◽  
Yusuf Afaque ◽  
Abhishek Kumar Bhartia ◽  
Vishnu Kumar Bhartia
Keyword(s):  
Surgical Treatment ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Laparoscopic Repair ◽  
Harmonic Scalpel ◽  
Postoperative Recovery ◽  
Early Recovery ◽  
Asymptomatic Patients ◽  
The Right

Background, Aims, and Objectives. Congenital diaphragmatic hernia typically presents in childhood but in adults is extremely rare entity. Surgery is indicated for symptomatic and asymptomatic patients who are fit for surgery. It can be done by laparotomy, thoracotomy, thoracoscopy, or laparoscopy. With the advent of minimal access techniques, the open surgical repair for this hernia has decreased and results are comparable with early recovery and less hospital stay. The aim of this study is to establish that laparoscopic repair of congenital diaphragmatic hernia is a safe and effective modality of surgical treatment.Materials and Methods.A retrospective study of laparoscopic diaphragmatic hernia repair done during May 2011 to Oct 2014. Totaln=13(M/F: 11/2) cases of confirmed diaphragmatic hernia on CT scan, 4 cases Bochdalek hernia (BH), 8 cases of left eventration of the diaphragm (ED), and one case of right-sided eventration of the diaphragm (ED) were included in the study. Largest defect found on the left side was 15 × 6 cm and on the right side it was 15 × 8 cm. Stomach, small intestine, transverse colon, and omentum were contents in the hernial sac. The contents were reduced with harmonic scalpel and thin sacs were usually excised. The eventration was plicated and hernial orifices were repaired with interrupted horizontal mattress sutures buttressed by Teflon pieces. A composite mesh was fixed with nonabsorbable tackers. All patients had good postoperative recovery and went home early with normal follow-up and were followed up for 2 years.Conclusion.The laparoscopic repair is a safe and effective modality of surgical treatment for congenital diaphragmatic hernia in experienced hands.

Right Diaphragmatic Eventration Simulating a Congenital Diaphragmatic Hernia

1996 ◽  
Vol 13 (04) ◽  
pp. 241-243 ◽  
Author(s):  
Khodayar Rais-Bahrami ◽  
James Gilbert ◽  
Gary Hartman ◽  
Roma Chandra ◽  
Billie Short
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Diaphragmatic Eventration

scholarly journals Duodenal Stenosis with Diaphragmatic Hernia—A Rare Combination—Delayed Diagnoses with Barium Study

2019 ◽  
Vol 02 (01) ◽  
pp. 069-073
Author(s):  
Rupa Ananthasivan ◽  
Sudarshan Rawat ◽  
Pramesh Reddy ◽  
Pooja G. Patil ◽  
Chittur Narendra Radhakrishnan
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Neonatal Period ◽  
Delayed Diagnosis ◽  
Fetal Life ◽  
Duodenal Stenosis ◽  
Food Residue ◽  
Surprising Finding ◽  
Made In

AbstractDuodenal stenosis is part of a spectrum of disorders due to non-cannulization of the fetal gut lumen occurring in 11 to 13 weeks of fetal life. The diagnosis is often made in the neonatal period owing to bilious vomiting. The authors present a case of a 9-year-old boy who was diagnosed by an upper gastrointestinal study that showed a hugely dilated stomach filled with food residue and a dilated first part of the duodenum with an abrupt narrowing in the second part of the duodenum in keeping with duodenal stenosis. There was no associated malrotation (a known association), but the delayed images showed a surprising finding of herniation of large bowel loops into the thorax suggestive of a congenital diaphragmatic hernia (Bochdalek type). Both these findings were confirmed on surgery, and the patient underwent duodenoduodenostomy and diaphragmatic hernia repair and is doing well on follow-up. This case is unusual due to the rare association of duodenal stenosis with congenital diaphragmatic hernia and delayed diagnosis. Both these pathologies most often present in the neonatal period, and delayed diagnosis is most often seen with associated trisomy 21 that was not the case in our patient.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

2021 ◽  
pp. jmedgenet-2020-107317
Author(s):  
Tiana M Scott ◽  
Ian M Campbell ◽  
Andres Hernandez-Garcia ◽  
Seema R Lalani ◽  
Pengfei Liu ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Exome Sequencing ◽  
Diaphragmatic Hernia ◽  
De Novo ◽  
Diagnostic Yield ◽  
Fanconi Anaemia ◽  
Compound Heterozygous ◽  
Pathogenic Variants ◽  
Clinical Exome Sequencing ◽  
Made In

BackgroundCongenital diaphragmatic hernia (CDH) is a life-threatening birth defect that often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant (CNV) analysis is often employed as a diagnostic test for CDH+, clinical exome sequencing (ES) has not been universally adopted.MethodsWe analysed a clinical database of ~12 000 test results to determine the diagnostic yields of ES in CDH+ and to identify new phenotypic expansions.ResultsAmong the 76 cases with an indication of CDH+, a molecular diagnosis was made in 28 cases for a diagnostic yield of 37% (28/76). A provisional diagnosis was made in seven other cases (9%; 7/76). Four individuals had a diagnosis of Kabuki syndrome caused by frameshift variants in KMT2D. Putatively deleterious variants in ALG12 and EP300 were each found in two individuals, supporting their role in CDH development. We also identified individuals with de novo pathogenic variants in FOXP1 and SMARCA4, and compound heterozygous pathogenic variants in BRCA2. The role of these genes in CDH development is supported by the expression of their mouse homologs in the developing diaphragm, their high CDH-specific pathogenicity scores generated using a previously validated algorithm for genome-scale knowledge synthesis and previously published case reports.ConclusionWe conclude that ES should be ordered in cases of CDH+ when a specific diagnosis is not suspected and CNV analyses are negative. Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12-congenital disorder of glycosylation, Rubinstein-Taybi syndrome, Fanconi anaemia, Coffin-Siris syndrome and FOXP1-related disorders.

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