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BMC Surgery May 2021Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high rate of new mutation and variable expression. Diffuse neurofibroma of the epidermis...
BACKGROUND
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high rate of new mutation and variable expression. Diffuse neurofibroma of the epidermis invading deeper organs is rare.We report a case of diffuse subcutaneous neurofibroma in the thoracoabdominal wall which had invaded the diaphragm and caused diaphragmatic eventration.
CASE PRESENTATION
We describe a patient with diffuse neurofibroma of the chest and abdomen who was admitted to the hospital due to sudden abdominal pain and a possible diaphragmatic hernia. We performed thoracotomy and found that the neurofibroma had invaded the diaphragm and caused diaphragmatic eventration.
CONCLUSIONS
This occurrence has not been reported, and it shows that although neurofibromatosis is a benign disease, it still has the biological behavior of a malignant tumor and may cause a serious impact on and damage to other organs.
Topics: Abdominal Wall; Diaphragm; Diaphragmatic Eventration; Hernias, Diaphragmatic, Congenital; Humans; Neurofibroma
PubMed: 34030682
DOI: 10.1186/s12893-021-01258-4 -
American Journal of Medical Genetics.... Aug 2021Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU),... (Review)
Review
Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than 100 cases have been reported in the literature, a comprehensive review has not been performed nor have clinical guidelines been established. Therefore, we describe the clinical features of 16 additional patients, review features of previously reported individuals, and suggest clinical guidelines. Our findings expand the clinical phenotype of T9M, including novel features of amblyopia, astigmatism, corectopia of pupil, posterior embryotoxon, and diaphragmatic eventration. Most patients had prenatal and perinatal issues, particularly from respiratory, growth, and feeding standpoints. Although small birth parameters were common, long-term growth trends varied widely. An association with advanced parental ages was also identified. The spectrum of growth and development was wide, ranging from nonverbal patients to those able to participate in educational programs with age-appropriate peers. The severity of clinical outcomes was unrelated to blood lymphocyte mosaicism levels. Microarray analysis had a higher diagnostic rate compared to standard karyotype analysis and should be utilized if this diagnosis is suspected. Future longitudinal studies will be key to monitor long-term outcomes of individuals with T9M and determine best practices for clinical management.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Chromosomes, Human, Pair 9; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Growth Charts; Humans; Infant; Infant, Newborn; Male; Mosaicism; Phenotype; Trisomy; Uniparental Disomy; Young Adult
PubMed: 33969943
DOI: 10.1002/ajmg.a.62251 -
The Pan African Medical Journal 2020The COVID-19 pandemic remains an evolving disease posing a challenge of incomplete understanding escalated by random atypical clinical presentations. Numerous challenges...
The COVID-19 pandemic remains an evolving disease posing a challenge of incomplete understanding escalated by random atypical clinical presentations. Numerous challenges still exist with accessibility and availability of standard COVID-19 viral testing using real-time Polymerase Chain Reaction (RT-PCR), in low- and middle-income countries, especially in several hospital settings. The clinical information of three select patients at a major health facility in Southwestern Nigeria with unusual COVID-19 clinical presentation and clinical management dilemma related to challenges with COVID-19 viral laboratory testing, were retrospectively reviewed. The medical history in all three cases closely mimicked that of other medical conditions because of assumptions created by red herrings like an acute exacerbation of an underlying non-communicable disease (diaphragmatic eventration) in case 1, re-activation of a previously treated lung condition (tuberculosis) in case 2 and a sequalae of a previously diagnosed but poorly-managed chronic non-communicable disease (decompensated hypertensive heart disease). Also, viral testing was challenging in all cases due to reasons ranging from late turn-around time to inconsistent results. However, thoracic imaging was employed in all cases to heighten suspicion of COVID-19 infection, resolve management dilemma and limit intra-hospital spread. Thoracic imaging can play a major role within hospital settings in low-and middle-income countries in resolving diagnostic challenges of atypical COVID-19 clinical presentations, raising suspicion for early institution of intra-hospital disease containment measures, limiting exposure among hospital staff and guiding clinical case management of COVID-19; especially where challenges with confirmatory viral testing remain persistent.
Topics: Aged; Aged, 80 and over; COVID-19; COVID-19 Testing; Humans; Male; Middle Aged; Nigeria; Radiography, Thoracic; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 33654511
DOI: 10.11604/pamj.2020.37.284.26697 -
African Journal of Paediatric Surgery :... 2021Bochdalek hernia usually presents in neonates in the form of respiratory distress. Presentation as acute intestinal obstruction is extremely rare. We report a...
Bochdalek hernia usually presents in neonates in the form of respiratory distress. Presentation as acute intestinal obstruction is extremely rare. We report a 6-month-old male infant with spontaneous rupture of the sac in a Bochdalek hernia leading to acute gastrointestinal obstruction. Diaphragmatic hernia can rarely present as acute intestinal obstruction due to spontaneous rupture of sac.
Topics: Acute Disease; Hernias, Diaphragmatic, Congenital; Humans; Infant; Intestinal Obstruction; Male; Rupture, Spontaneous
PubMed: 33642409
DOI: 10.4103/ajps.AJPS_79_20 -
BMJ Case Reports Feb 2021Morgagni's hernia (MH) can be diagnosed by different utilities, but all these methods are not always 100% accurate. Three-dimensional (3D) reconstruction model could be...
Morgagni's hernia (MH) can be diagnosed by different utilities, but all these methods are not always 100% accurate. Three-dimensional (3D) reconstruction model could be helpful in better understanding the important anatomical structures. We report a case of MH who was once misdiagnosed as diaphragmatic eventration at the other institution and we offered laparoscopic repair according to the 3D reconstruction model. Our case highlights that 3D reconstruction model could be a useful supplementary tool in the diagnosis and preoperative assessment for patients with MH especially when it is confused in diagnosis in clinical practice.
Topics: Aged; Diagnostic Errors; Diaphragmatic Eventration; Female; Hernias, Diaphragmatic, Congenital; Humans; Imaging, Three-Dimensional; Laparoscopy; Preoperative Care; Tomography, X-Ray Computed
PubMed: 33558384
DOI: 10.1136/bcr-2020-239911 -
BMJ Case Reports Jan 2021A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was...
Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.
A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. 'Subclavian artery supply disruption sequence' (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland's syndrome. This case reinforces SASDS theory associated with the genesis of Poland's syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.
Topics: Congenital Abnormalities; Diaphragmatic Eventration; Ductus Arteriosus, Patent; Female; Humans; Infant, Newborn; Infant, Premature; Musculoskeletal Abnormalities; Poland Syndrome; Radiography, Thoracic; Rib Cage; Scapula; Shoulder Joint; Tomography, X-Ray Computed
PubMed: 33509875
DOI: 10.1136/bcr-2020-238392 -
Autopsy & Case Reports Apr 2020Diaphragmatic eventration (DE) associated with intestinal malrotation and renal agenesis is a rare entity. The authors report a case of a 69-year-old man who had...
Diaphragmatic eventration (DE) associated with intestinal malrotation and renal agenesis is a rare entity. The authors report a case of a 69-year-old man who had symptoms of heart failure. He had a previous imaging diagnosis of right diaphragmatic eventration and dilated cardiomyopathy. He died on the second day after the hospital admission and had a post mortem examination that confirmed complete right diaphragmatic eventration, intestinal malrotation, left renal agenesis, dilated cardiomyopathy, and anteriorly rotated right kidney and had findings suggestive of a thoracoabdominal compartment syndrome. Thoracoabdominal compartment syndrome is described as transmission of abdominal pressure through a defective diaphragm causing compression of the hemithorax viscera and mediastinal shift with a hemodynamic alteration. The association of these anomalies is rare, and the possibility of this finding in a patient with eventration should always be considered.
PubMed: 33344275
DOI: 10.4322/acr.2020.155 -
Multimedia Manual of Cardiothoracic... Sep 2020Diaphragmatic paralysis with subsequent eventration and respiratory compromise has a huge impact on the quality of life of affected patients. Many different surgical...
Diaphragmatic paralysis with subsequent eventration and respiratory compromise has a huge impact on the quality of life of affected patients. Many different surgical approaches for correcting this problem have been described in the past, using both transabdominal and transthoracic pathways. Either way, since the procedure in general requires suturing of the diaphragm, minimally invasive techniques have only been adopted very slowly and most thoracic surgeons nowadays still use a minithoracotomy, even when adopting a video-assisted approach. We have developed a safe and simple completely thoracoscopic technique for diaphragmatic plication, and in this video tutorial we demonstrate our technique.
Topics: Diaphragm; Humans; Minimally Invasive Surgical Procedures; Respiratory Paralysis; Thoracic Surgery, Video-Assisted
PubMed: 33301244
DOI: 10.1510/mmcts.2020.054 -
BMC Surgery Nov 2020This study sought to investigate the clinical characteristics of congenital diaphragmatic eventration (CDE) and to compare the efficacies of thoracoscopy and traditional... (Comparative Study)
Comparative Study
BACKGROUND
This study sought to investigate the clinical characteristics of congenital diaphragmatic eventration (CDE) and to compare the efficacies of thoracoscopy and traditional open surgery in infants with CDE.
METHODS
We retrospectively analyzed the clinical data of 125 children with CDE (90 boys, 35 girls; median age: 12.2 months, range: 1 h-7 years; body weight: 1.99-28.5 kg, median body weight: 7.87 ± 4.40 kg) admitted to our hospital in the previous 10 years, and we statistically analyzed their clinical manifestations and surgical methods.
RESULTS
A total of 108 children in this group underwent surgery, of whom 67 underwent open surgery and 41 underwent thoracoscopic diaphragmatic plication. A total of 107 patients recovered well postoperatively, except for 1 patient who died due to respiratory distress after surgery. After 1-9.5 years of follow-up, 107 patients had significantly improved preoperative symptoms. During follow-up, the location of the diaphragm was normal, and no paradoxical movement was observed. Eleven of the 17 children who did not undergo surgical treatment did not have a decrease in diaphragm position after 1-6 years of follow-up. The index data on the operation time, intraoperative blood loss, chest drainage time, postoperative mechanical ventilation time, postoperative hospital stay and postoperative CCU admission time were better in the thoracoscopy group than in the open group. The difference between the two groups was statistically significant (P < 0.05).
CONCLUSIONS
The clinical symptoms of congenital diaphragmatic eventration vary in severity. Patients with severe symptoms should undergo surgery. Both thoracoscopic diaphragmatic plication and traditional open surgery can effectively treat congenital diaphragmatic eventration, but compared with open surgery, thoracoscopic diaphragmatic plication has the advantages of a short operation time, less trauma, and a rapid recovery. Thus, thoracoscopic diaphragmatic plication should be the first choice for children with congenital diaphragmatic eventration.
Topics: Child; Child, Preschool; Diaphragm; Diaphragmatic Eventration; Female; Humans; Infant; Infant, Newborn; Male; Operative Time; Retrospective Studies; Thoracoscopy; Thoracotomy; Treatment Outcome
PubMed: 33148241
DOI: 10.1186/s12893-020-00928-z -
Annals of the Royal College of Surgeons... Jan 2021Hepatic herniation through the diaphragm is a rare finding. It generally occurs due to a congenital diaphragmatic abnormality or blunt trauma resulting in a...
Hepatic herniation through the diaphragm is a rare finding. It generally occurs due to a congenital diaphragmatic abnormality or blunt trauma resulting in a diaphragmatic defect. Making the diagnosis is difficult, as there are few definitive clinical signs and chest radiograph (CXR) findings may be non-specific. To our knowledge, only a single case report exists of penetrating right diaphragm injury leading to hepatic herniation. A 42-year-old man presented to the emergency department of a regional hospital with hyperglycaemia and exertional dyspnoea. He was diagnosed with diabetes mellitus type 2. He gave a history of smoking for 15 pack-years, was negative for retroviral disease and had no history of pulmonary tuberculosis. He had no significant surgical history but reported being stabbed with a knife in 1995. The point of entry was below the level of the nipple in the right anterior axillary line. At the time, he was treated with an intercostal drain and discharged home. CXR showed a right-sided chest mass. We considered a differential diagnosis of pulmonary consolidation, diaphragm eventration or hepatothorax. Computerized tomography of the chest and abdomen demonstrated apparent intrathoracic extension of the right liver lobe and partial attenuation of the superior vena cava and right atrium due to a mass effect. The upper border of the liver abutted the aortic arch. Surgical treatment options were discussed. The patient declined surgery and will be followed up as an outpatient.
Topics: Adult; Diagnosis, Differential; Diaphragm; Drainage; Dyspnea; Hernia, Diaphragmatic; Humans; Liver; Male; Radiography, Thoracic; Time Factors; Tomography, X-Ray Computed; Wounds, Stab
PubMed: 32969264
DOI: 10.1308/rcsann.2020.0195