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Frontiers in Pediatrics 2024Bronchopulmonary foregut malformation (BPFM) is an uncommon condition, with few case reports documented in both national and international literature. This scarcity...
BACKGROUND
Bronchopulmonary foregut malformation (BPFM) is an uncommon condition, with few case reports documented in both national and international literature. This scarcity underscores the importance of utilizing effective imaging techniques to improve our understanding and diagnostic precision concerning this disorder.
CASE DESCRIPTION
In the first case report, a neonate, born at full term and aged 15 days, presented with symptoms including dyspnea, coughing, wheezing, cyanosis, and vomiting. Initial diagnostic evaluations, which included chest radiography and upper gastrointestinal tract radiography, led to an erroneous initial diagnosis of a left-sided diaphragmatic hernia, accompanied by a suspicion of infection. In the second case report, another neonate, also born at full term but aged 5 days, exhibited symptoms such as coughing, choking, and mild vomiting. Utilizing a combination of computed tomography (CT) scans (plain, enhanced, and reconstructed), chest x-ray, and upper gastrointestinal tract radiography, the diagnosis of BPFM was accurately determined.
CONCLUSION
Comprehensive imaging examinations play a crucial role in reducing misdiagnosis and diagnostic oversights in cases of BPFM. Given its rarity, BPFM often manifests as a sequestered lung accompanied by gastrointestinal abnormalities. Hence, the integration of CT scans with gastrointestinal tract radiography can substantially improve diagnostic precision in such cases.
PubMed: 38813545
DOI: 10.3389/fped.2024.1400124 -
Cureus Apr 2024Diaphragmatic hernia (DH) is an uncommon cause of small bowel obstruction (SBO), particularly in the absence of trauma. This rarity can pose a diagnostic challenge,...
Diaphragmatic hernia (DH) is an uncommon cause of small bowel obstruction (SBO), particularly in the absence of trauma. This rarity can pose a diagnostic challenge, leading to significant delays in treatment and increased morbidity. We report a case of a 79-year-old male patient who presented with acute signs of small bowel obstruction. The patient had no reported history of trauma. Computed tomography (CT) of the abdomen revealed a diaphragmatic hernia causing small bowel obstruction. The patient underwent an initial laparoscopy, which was converted to laparotomy, small bowel resection, and subsequent hernia repair. The patient made a good recovery, and two weeks after his initial presentation, he was discharged home. This case highlights the importance of considering diaphragmatic hernia in differential diagnosis for small bowel obstruction, even in the absence of trauma.
PubMed: 38813327
DOI: 10.7759/cureus.59279 -
Life (Basel, Switzerland) May 2024Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary...
Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as agenesis of the corpus callosum, cerebellar hypoplasia, and enlarged ventricles. We present a non-consanguineous northern European family with two recurrent cases of FS: a boy with multiple congenital malformations who died at the age of 2.5 months and a female fetus with a complex developmental disorder with similar features in a following pregnancy. Quad whole exome analysis revealed two likely splicing-affecting disease-causing mutations in the gene: a synonymous mutation c.2619G>A, p.(Leu873=) in the last nucleotide of exon 29 and a 30 bp-deletion c.996_1023+2del (NM_176787.5) protruding into intron 12, with both mutations in configuration in the affected patients. Exon skipping resulting from these two variants was confirmed via RNA sequencing. Our molecular and clinical findings identified compound heterozygosity for two novel splice-affecting variants as the underlying pathomechanism for the development of FS in two patients.
PubMed: 38792648
DOI: 10.3390/life14050628 -
Cureus Apr 2024Morgagni hernia is a rare condition characterized by a congenital retrosternal defect of the diaphragm, leading to the protrusion of abdominal organs into the thoracic...
Morgagni hernia is a rare condition characterized by a congenital retrosternal defect of the diaphragm, leading to the protrusion of abdominal organs into the thoracic cavity. Here, we report the case of a 72-year-old woman with a Morgagni hernia incidentally discovered during evaluation for persistent dyspnea following COVID-19 pneumonia. The diagnosis was made by imaging, including a chest X-ray and a thoracic CT scan, which showed an ascent of the transverse colon and omentum through an anterior retrosternal defect. Surgical exploration via right posterolateral thoracotomy revealed an anterior diaphragmatic hernia with a small defect containing the greater omentum and transverse colon, which was repaired by resecting the hernia sac and closing the diaphragmatic defect by fixing the anterior rim of the diaphragm to the retrosternal fascia with interrupted silk sutures. Postoperative recovery was uneventful, and follow-up examinations revealed no abnormalities on chest X-rays obtained at one, three, and six months. This case highlights the incidental discovery and successful surgical management of a Morgagni hernia in an elderly patient through a thoracic approach.
PubMed: 38784344
DOI: 10.7759/cureus.58799 -
Case Reports in Pediatrics 2024Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with...
Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5-25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.
PubMed: 38779305
DOI: 10.1155/2024/7518183 -
BJS Open May 2024In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards... (Review)
Review
BACKGROUND
In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these 'grown-ups' in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood.
METHODS
A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership.
RESULTS
This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer.
CONCLUSION
The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.
Topics: Humans; Child; Congenital Abnormalities; Neoplasms; Adult; Surgical Procedures, Operative
PubMed: 38776252
DOI: 10.1093/bjsopen/zrae028 -
BMC Pediatrics May 2024Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by...
BACKGROUND
Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by surgery in time, the mortality rate can range from 30 to 50%. Clinical presentations of acute gastric volvulus are atypical and often mimic other abdominal conditions such as gastritis, gastroesophageal reflux, gastric dilation, and pancreatitis. Imaging studies are crucial for diagnosis, with barium meal fluoroscopy being the primary modality for diagnosing gastric volvulus. Cases of acute gastric volvulus diagnosed by ultrasound are rarely reported.
CASE PRESENTATION
We reported a rare case of acute gastric volvulus in a 4-year-old Chinese girl who presented with vomiting and abdominal pain. Ultrasound examination revealed the "whirlpool sign" in the cardia region, raising suspicion of gastric volvulus. Diagnosis was confirmed by X-ray barium meal fluoroscopy, which indicated left-sided diaphragmatic hernia and obstruction at the cardia region. Surgical intervention confirmed our suspicion of acute complete gastric volvulus combined with diaphragmatic hernia.
CONCLUSION
In this case, we reported an instance of acute complete gastric volvulus. Ultrasound revealed a "whirlpool sign" in the cardia, which is likely to be a key sign for the diagnosis of complete gastric volvulus.
Topics: Humans; Stomach Volvulus; Female; Child, Preschool; Acute Disease; Hernias, Diaphragmatic, Congenital; Ultrasonography; Fluoroscopy
PubMed: 38769486
DOI: 10.1186/s12887-024-04834-8 -
World Journal of Clinical Cases May 2024A Bochdalek hernia (BH) is a congenital diaphragmatic hernia that often develops in the neonatal period. BH typically occurs on the left side of the diaphragm. A...
BACKGROUND
A Bochdalek hernia (BH) is a congenital diaphragmatic hernia that often develops in the neonatal period. BH typically occurs on the left side of the diaphragm. A right-sided BH in an adult is rare.
CASE SUMMARY
A 45-year-old man was referred to our hospital because of an abnormal shadow seen on chest radiography during a medical check-up. A chest radiograph showed elevation of the right hemidiaphragm. Computed tomography showed prolapse of multiple intraabdominal organs into the right thoracic cavity, corresponding to a right-sided BH. The herniated contents included the stomach, transverse colon, and left lobe of the liver. The left lobe of the liver was enlarged, particularly the medial segment. Laparoscopic surgery was performed. However, the left lobe of the liver was completely trapped in the thoracic cavity. Therefore, thoracoscopic manipulation had to be performed to return the liver to the abdominal cavity. The hernia was repaired with interrupted nonabsorbable sutures and reinforced with mesh.
CONCLUSION
Combined laparoscopic and thoracoscopic surgery was successfully performed for right-sided BH with massive liver prolapse and abnormal liver morphology.
PubMed: 38765754
DOI: 10.12998/wjcc.v12.i14.2420 -
World Journal of Clinical Cases May 2024Morgagni hernia (MH) is a form of congenital diaphragmatic hernia (CDH) characterized by an incomplete formation of diaphragm, resulting in the protrusion of abdominal...
BACKGROUND
Morgagni hernia (MH) is a form of congenital diaphragmatic hernia (CDH) characterized by an incomplete formation of diaphragm, resulting in the protrusion of abdominal organs into the thoracic cavity. The estimated incidence of CDH is between 1 in 2000 and 1 in 5000 live births, although the true incidence is unknown. MH typically presents in childhood and can be diagnosed either prenatally or postnatally. However, it can also be asymptomatic and carry the risk of developing into a life-threatening condition in adulthood.
CASE SUMMARY
A 76-year-old female with no history of prior abdominal surgeries presented for an elective colonoscopy for polyp surveillance. During the procedure, when approaching the hepatic flexure, the scope could not be advanced further despite multiple attempts. The patient experienced mild abdominal discomfort, leading to the abortion of the procedure. While in the recovery area, she developed increasing abdominal pains and hypotension. Urgent abdominal imaging revealed herniation of the proximal transverse colon through a MH into the chest with evidence of perforation. The patient underwent laparoscopic urgent colonic resection and primary hernia repair and was discharged uneventfully 2 d later.
CONCLUSION
A MH is a rare condition in adults that can present as a life-threatening complication of colonoscopy, even in patients with a history of uneventful colonoscopies. This case highlights the importance of considering congenital and internal hernias when faced with sudden and unexplained difficulties during colonoscopy. If there is a suspicion of MH, the endoscopist should halt the procedure and immediately obtain abdominal imaging to confirm the diagnosis.
PubMed: 38765745
DOI: 10.12998/wjcc.v12.i14.2389