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Annals of Medicine and Surgery (2012) Sep 2020Congenital diaphragmatic eventration is characterized by the elevation of the diaphragm, causing a protrusion of the intraabdominal viscera into the affected hemithorax...
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.
PubMed: 32774850
DOI: 10.1016/j.amsu.2020.07.034 -
The Annals of Thoracic Surgery Feb 2021Diaphragmatic eventration, both congenital and acquired, is defined as abnormal elevation of the diaphragm. We report 2 cases of adult symptomatic diaphragmatic...
Diaphragmatic eventration, both congenital and acquired, is defined as abnormal elevation of the diaphragm. We report 2 cases of adult symptomatic diaphragmatic eventration successfully treated by laparoscopic diaphragmatic resection with an endostaple. These cases were observed for more than 1 year with no complications or recurrence after surgery.
Topics: Adult; Aged; Diaphragm; Diaphragmatic Eventration; Female; Humans; Laparoscopy; Male; Surgical Mesh; Sutures
PubMed: 32693035
DOI: 10.1016/j.athoracsur.2020.05.115 -
Annals of Medicine and Surgery (2012) Jun 2020Diaphragmatic eventration can be congenital or acquired. Diagnosis is delayed due to no symptoms or very mild ones and is generally done by imaging modalities. This...
INTRODUCTION
Diaphragmatic eventration can be congenital or acquired. Diagnosis is delayed due to no symptoms or very mild ones and is generally done by imaging modalities. This condition is managed by plication of the affected part of diaphragm by various surgical approaches.
PRESENTATION OF CASE
A forty seven years lady presented with one year long history of abdominal pain, bloating and fullness after meals who was being treated in line of peptic acid disorder. She had developed bilateral foot drop after typhoid fever at seventeen years of age. Clinical examination and imaging with chest x-ray, chest ultrasound and computed tomography scan suggested eventration of left hemidiaphragm. Plication of eventration of left hemidiaphragm was done via mini thoracotomy of the left thorax. There were no postoperative complications and she was discharged on the sixth postoperative day.
DISCUSSION
Acquired eventration of diaphragm is commonly due to traumatic phrenic nerve palsy but rarely can be associated with a history of infection causing nerve palsies. Thoracic ultrasound is an emerging modality for diagnosis supporting X-rays and CT Scans. Plication of eventration with minimally invasive techniques has less number of hospital stay and less pain compared to open approaches.
CONCLUSION
Non-traumatic diaphragmatic eventration due to acquired phrenic nerve palsy following an unknown febrile illness is a rare case to be reported in Nepal. The aim of treatment is expansion of intra-thoracic space which is done by plication of the diaphragm.
PubMed: 32382413
DOI: 10.1016/j.amsu.2020.04.003 -
Journal of Medical Cases Apr 2020A 46-year-old woman presented with pain in the lateral side of the left chest wall and a sensation of fullness and pulling in the epigastric region, which started 4...
A 46-year-old woman presented with pain in the lateral side of the left chest wall and a sensation of fullness and pulling in the epigastric region, which started 4 weeks following diaphragmatic plication for left diaphragmatic eventration. The patient was diagnosed as suffering from post-thoracotomy pain syndrome (PTPS). A diagnostic intercostal nerve block relieved the chest wall pain, but not the epigastric pain. After a detailed evaluation, the epigastric pain was postulated to be of diaphragmatic origin and hence a diagnostic phrenic nerve block was performed which relieved the epigastric pain. Combined intercostal nerve neurolysis and phrenic nerve block relieved her pain completely. The phrenic nerve may play a role in pain transmission and the genesis of chronic pain following diaphragmatic surgery. Diaphragmatic pain following surgery may contribute to the development of chronic pain. Phrenic nerve blockade provides diagnostic information regarding the etiology of pain as well as being effective in providing analgesia. The technique of phrenic nerve block is presented and its role in the diagnosis and treatment of pain following thoracic surgery is reviewed.
PubMed: 34434373
DOI: 10.14740/jmc3436 -
American Journal of Medical Genetics.... May 2020Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal...
Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one-day-old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post-zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the PBX1 mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35 weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow-up studies for presumed de novo and low-level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations.
Topics: Congenital Abnormalities; Exome; Fathers; Female; Gene Frequency; Humans; Infant, Newborn; Kidney; Male; Mosaicism; Mutation; Perinatal Death; Pre-B-Cell Leukemia Transcription Factor 1; Pregnancy; Urinary Tract; Urogenital Abnormalities; Exome Sequencing
PubMed: 32141698
DOI: 10.1002/ajmg.a.61541 -
Diaphragm ultrasound examination for congenital diaphragmatic eventration in two premature neonates.BMJ Case Reports Feb 2020Congenital diaphragmatic eventration (CDE) is always diagnosed by fluoroscopic examination. However, this technique is inappropriate for premature neonates because of...
Congenital diaphragmatic eventration (CDE) is always diagnosed by fluoroscopic examination. However, this technique is inappropriate for premature neonates because of risks of transport, hypothermia and ionising radiation. Herein, we describe two cases of premature neonates suspected to have CDE on radiography. We could not perform fluoroscopic examination due to their prematurity status. Therefore, we performed ultrasound examination and succeeded in diagnosing CDE without any risks. Using ultrasound examination, we could evaluate movement and thickness of the diaphragm. We consider this additional information useful for CDE diagnosis. This is the first report on CDE diagnosis using ultrasound examination.
Topics: Diaphragm; Diaphragmatic Eventration; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Male; Ultrasonography
PubMed: 32019758
DOI: 10.1136/bcr-2019-232813 -
European Journal of Pediatrics Jun 2020Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic...
Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this retrospective analysis. Demographics, CDH-characteristics, treatment, and clinical outcome were evaluated. In total, 200 patients were included. Patients with an eventration or hernia sac had no significant differences and were compared as patients without a true defect to patients with a true defect. The 1-year survival of patients with a true defect was significantly lower than patients with no true defect (76% versus 97%, p = 0.001). CDH with no true defect had significantly better short-term outcomes than CDH with true defect requiring patch repair. However, at 30 days, they more often required oxygen supplementation (46% versus 26%, p = 0.03) and had a higher recurrence rate (8% versus 0%, p = 0.006) (three eventration and two hernia sac patients). Conclusion: Patients without a true defect seem to have a more similar clinical outcome than CDH patients with a true defect, with a better survival. However, the recurrence rate and duration of oxygen supplementation at 30 days are higher than CDH patients with a true defect.What is Known:• Congenital diaphragmatic hernia with or without hernia sac and congenital diaphragmatic eventration (incomplete muscularization) are often treated similarly.• Patients with hernia sac and eventration are thought to have a relatively good outcome, but exact numbers are not described.What is New:• Congenital diaphragmatic eventration and patients with hernia sac seem to have a more similar clinical outcome than Bochdalek type CDH with a true defect.• Patients without a true defect (eventration or hernia sac) have a high recurrence rate.
Topics: Diagnosis, Differential; Diaphragmatic Eventration; Female; Follow-Up Studies; Hernias, Diaphragmatic, Congenital; Herniorrhaphy; Humans; Infant, Newborn; Male; Prognosis; Recurrence; Retrospective Studies; Survival Analysis
PubMed: 31965300
DOI: 10.1007/s00431-020-03576-w -
Journal of Surgical Case Reports Dec 2019Diaphragmatic 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...
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.
PubMed: 31908759
DOI: 10.1093/jscr/rjz371 -
Pediatric Gastroenterology, Hepatology... Nov 2019Gastric volvulus (GV) is an uncommon pathology, with 10-20% of cases occurring in children, typically before one year of age. It often occurs in people with congenital...
Gastric volvulus (GV) is an uncommon pathology, with 10-20% of cases occurring in children, typically before one year of age. It often occurs in people with congenital diaphragmatic hernias, intestinal malrotation, eventration of the diaphragm, paraesophageal hernias, wandering spleens, asplenism, or intra-abdominal adhesions. We report a rare case of chronic GV after left hemihepatectomy for hepatoblastoma in a child. The patient was a 9-year-old boy who complained of upper abdominal pain and postprandial upper abdominal distension for one year. At the age of 4 months, he was diagnosed with hepatoblastoma and had undergone left hemihepatectomy. The upper gastrointestinal contrast study revealed chronic organoaxial gastric volvulus. After a surgical procedure involving adhesiolysis and an anterior wall gastropexy, the patient improved and the symptoms resolved. Although GV is a rare disease, it should be suspected in a patient with a previous abdominal surgical history who is complaining of abdominal distension and pain.
PubMed: 31777729
DOI: 10.5223/pghn.2019.22.6.608