International Journal of Surgery Case Reports最新文献

Introduction and importance: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by multiple gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and/or a family history of PJS. Intussusception in patient with PJS is a common complication presenting as abdominal pain and a feature of intestinal obstruction secondary to polyps.

Case presentation: A 36-year-old woman presented to the emergency department with bilateral flank pain, melena, and generalized fatigue with multiple, black-pigmented lesions on her lips extending to mucosa of buccal cavity. Contrast-enhanced computed tomography confirmed multiple gastrointestinal polyps with jejuno-jejunal intussusception. Exploratory laparotomy revealed jejuno-jejunal intussusception with multiple pedunculated polyps. Segmental jejunal resection followed by jejunojejunal stapled anastomosis was performed. Histopathological examination revealed a hamartomatous polyp, confirming the diagnosis of PJS.

Clinical discussion: PJS is a rare autosomal disorder due to a mutation in the tumor suppressor gene STK11, found on chromosome 19p13. The estimated prevalence of PJS ranges between 1 in 8300 and 1 in 280,000. Intussusception is one of the most common complications, occurring in almost half the patients. Surgical resection remains the recommended treatment for rapidly growing polyps associated with intussusception. Screening at regular intervals for early detection of cancers and recurrence of polyps after excision is recommended.

Conclusion: Accurate diagnosis of PJS depends on childhood history, family history, physical examination, endoscopic evaluation, and genetic testing. Their presentation varies, ranging from gastointestinal bleeding to intestinal obstruction brought on by intussusception. Surgical resections remain the recommended treatment in patients with intussusception associated with large and rapidly growing polyps.

Introduction: Encapsulating peritoneal sclerosis is a rare disease, characterized by subocclusive symptoms. Idiopathic forms could be challenging, as they are often mistaken for other conditions. We present a case mistaken for an internal hernia.

Case report: A 52-year-old male patient, who was complaining of abdominal pain and bloating for 6 months. He presented due to worsening of his symptoms. A CT scan was then performed evoking an internal hernia. Emergency surgery via laparoscopy revealed encapsulating peritoneal sclerosis with a cocoon-like fibrous tissue encasing the bowel. A conversion by a midline incision was performed for enterolysis and fibrous tissue resection.

Discussion: Encapsulating peritoneal sclerosis (EPS), is a rare disease. Because of the rigid capsule surrounding the loops, symptomatology includes recurrent occlusive symptoms. The incidence of this pathology is unknown. EPS is often associated with peritoneal dialysis(PD), infections, and systemic inflammatory disorders. Idiopathic cases, like in our patient, are often misdiagnosed pre-operatively. The treatment focuses on the management of the underlying cause if identified. Corticoids are proposed in inflammatory diseases while switching to hemodialysis or the use of tamoxifen and immunosuppressive therapies are proposed in case of PD. In case of failure of the conservative approaches or in case of emergency, a peritonectomy and enterolysis could be performed despite being at high risk of recurrence and mortality.

Conclusion: We aimed to describe a case misdiagnosed as an internal hernia to raise awareness among practitioners about this condition.

Introduction: Mitral regurgitation is a potential complication of transcatheter aortic valve replacement. Here, we report a case of severe acute mitral regurgitation caused by papillary muscle rupture occurring 16 days after transcatheter aortic valve replacement.

Presentation of case: An 82-year-old woman with severe AS was referred to our hospital. Transfemoral transcatheter aortic valve replacement was scheduled. Preoperative computed tomography revealed that the height of the left coronary artery was 8.7 cm, and a self-expandable valve was selected. The procedure was performed successfully without coronary obstruction. A complete atrioventricular block was observed on postoperative day 5, and a pacemaker was implanted. On postoperative day 13, the patient suddenly developed dyspnoea. Coronary angiography revealed stenosis of the left main coronary artery, and percutaneous coronary intervention was successfully performed. However, on postoperative day 16, she again developed sudden dyspnoea. Transoesophageal echocardiography revealed severe mitral regurgitation caused by rupture of the left ventricular papillary muscle. An emergency mitral valve replacement was performed. Her postoperative course was uneventful.

Discussion: Left ventricular papillary muscle rupture due to acute myocardial infarction after transcatheter aortic valve replacement is rare. In case of anatomical risk of coronary artery occlusion after transcatheter aortic valve replacement with a self-expandable valve, careful observation for delayed coronary obstruction should be continuously performed, even when the valve is placed in a low position.

Conclusion: Severe MR due to papillary muscle rupture can be a complication of TAVR. In such cases, emergency mitral valve replacement should be performed.

Introduction: Esophageal leiomyoma is the most common benign submucosal mesenchymal tumor of the esophagus, typically asymptomatic but can cause symptoms such as dysphagia, chest pain, or regurgitation when large. Diagnosis is often incidental, confirmed by imaging techniques like computed tomography (CT) and endoscopic ultrasound (EUS), with surgical enucleation being the standard treatment.

Presentation of case: A 28-year-old male presented with a one-year history of persistent epigastric discomfort and gastroesophageal reflux disease (GERD) symptoms unresponsive to proton pump inhibitors. Chest radiograph and CT scan revealed a well-defined submucosal mass in the esophagus. Upper gastrointestinal endoscopy and EUS confirmed the lesion's benign nature. Fine-needle aspiration biopsy showed spindle-shaped cells, confirming esophageal leiomyoma. The patient underwent minimally invasive tumor resection via video-assisted thoracoscopic surgery (VATS), with a smooth postoperative recovery.

Discussion: Esophageal leiomyomas are rare, often asymptomatic, and may present with nonspecific symptoms if large. CT and EUS are key diagnostic tools, and minimally invasive surgery, such as VATS, is the preferred treatment for larger tumors due to shorter recovery times and fewer complications. Early identification and appropriate surgical intervention are crucial for optimal outcomes.

Conclusion: Esophageal leiomyoma should be considered in patients with GERD-like symptoms unresponsive to therapy. Early imaging, endoscopic evaluation, and minimally invasive surgery provide excellent outcomes, with regular follow-up recommended to monitor for recurrence.

Introduction and importance: Isolated neurofibromas of the nasal tip are uncommon, particularly in pediatric patients. Neurofibromas are benign tumors that arise from the peripheral nerve sheath and are usually associated with neurofibromatosis type 1 (NF1). Isolated cases present unique challenges due to their location and the importance of cosmetic outcomes. This case highlights the presentation, diagnostic process, and management of a rare nasal tip neurofibroma in an 11-year-old girl.

Case presentation: An 11-year-old female presented with a gradually enlarging mass on the nasal tip over several months, causing cosmetic concern without pain, bleeding, or obstruction. Clinical examination revealed a firm, non-tender lesion, about 1 cm in diameter, with normal skin. Imaging confirmed a well-defined mass localized to the nasal tip. Surgical excision was performed, and histopathology confirmed a diagnosis of neurofibroma. Follow-up showed no recurrence, and the patient was satisfied with the cosmetic result.

Clinical discussion: Neurofibromas, though benign, can cause aesthetic concerns, particularly in prominent areas like the nasal tip. Isolated neurofibromas in children without NF1 are rare. Surgical excision is the treatment of choice, with emphasis on complete removal to prevent recurrence. This case demonstrates successful excision with clear margins, preserving nasal structure and appearance. Long-term monitoring is essential for recurrence prevention.

Conclusion: Isolated neurofibroma of the nasal tip is a rare condition in children. Surgical excision remains the treatment of choice, with careful planning required to preserve both cosmetic and functional outcomes. Regular follow-up is crucial to monitor for recurrence, especially in the absence of neurofibromatosis.

Introduction: Triorchidism is a rare anomaly whose management raised considerable discussion. Several factors must be considered, including the patient's age, the testes location, their functional status, and the accessibility and compliance for follow-up. We present a case of triorchidism diagnosed incidentally during a routine hernioplasty procedure, serving educational and informative purposes.

Case report: A 44-year-old patient, presented with uncomplicated bilateral inguinal hernias with both testicles in place. During surgery, a supernumerary testicle was discovered in the inguinal region. It was decided to preserve the testicle since the patient agreed to strict and vigilant follow-up.

Discussion: Supernumerary testis may have a scrotal, inguinal, or abdominal location. The exact etiology of polyorchidism is unclear, however accidental division of the genital ridge before 8 weeks of gestation could be a possible cause. There are various types of classifications for polyorchidism, which is made on imaging in 80 % of the cases and incidentally in 20 % of the cases. In young patients in reproductive age, orchidopexy is recommended if feasible, followed by careful observation. This monitoring is supported by the high sensitivity and specificity of imaging techniques. The situation is more intricate when the supernumerary testis is incidentally discovered and is associated to cryptorchidism, known to increase malignancy risk. These situations raise the question whether to perform orchiectomy per-operatively.

Conclusion: Polyorchidism is a rare pathology with only few cases reported in the literature. Due to the lack of consensus and the high resolution of imaging sensitivity and specificity, management tends to be conservative.

Introduction and importance: Rapunzel syndrome is a rare condition that results from trichotillomania (compulsive hair pulling) and trichophagia (hair eating), causing a trichobezoar (hairball) to form This syndrome typically affects young females with psychiatric conditions and presents with symptoms like chronic abdominal pain, nausea, vomiting, and malnutrition. The condition is often diagnosed late, leading to serious gastrointestinal complications.

Case presentation: A 19-year-old female from a rural community presented with chronic abdominal pain, vomiting, and nutritional deficiencies, including scaly skin and koilonychia. Over time, her symptoms worsened, and she discovered a palpable abdominal mass. Clinical evaluation, including an upper gastrointestinal endoscopy, revealed a large trichobezoar extending from the lower esophagus to the pylorus. The patient had a history of pica and compulsive behaviors, suggesting psychiatric involvement.

Clinical discussion: The endoscopy revealed a 20 × 13.5 × 9 cm trichobezoar. After successful surgical removal, the patient's gastrointestinal symptoms improved. Post-operatively, she received nutritional support and was referred for psychiatric evaluation to manage trichotillomania and trichophagia, with the aim of preventing recurrence in a private practice setting.

Conclusion: This case highlights the need for early recognition of Rapunzel syndrome in patients with chronic gastrointestinal symptoms and nutritional deficiencies. A multidisciplinary approach is essential for effective management and preventing recurrence.

Introduction: Appendiceal endometriosis (AE) is a rare condition, with a prevalence ranging from 0.05 % to 1.7 % in patients with endometriosis. It represents <1 % of cases of acute appendicitis (AA).

Cases presentation: We present two cases of AA where the histological cause was endometriosis. Both cases involved patients around 40 years old who presented with abdominal pain in the right iliac fossa. AA was diagnosed through abdominal computed tomography (CT), which in the first case showed acute appendicitis, successfully treated with laparoscopic appendectomy. In the second case, the CT showed signs of an appendiceal phlegmon, initially treated non-operatively with poor response, leading to exploratory laparoscopy and abscess drainage 48 h later. Subsequently, a scheduled laparoscopic appendectomy was performed after 6 months. Histopathological diagnosis in both cases was AA due to AE with endometrial glands showing recent bleeding, causing hyperplasia of the appendiceal muscular layer.

Discussion: Endometriosis, characterized by the presence of endometrial tissue outside the uterine cavity, can rarely affect the appendix, termed AE. AE, though uncommon, poses diagnostic challenges due to nonspecific imaging findings and variable presentations, ranging from asymptomatic cases to AA. Histological evaluation post-appendectomy is definitive for diagnosis. AE is associated with right-sided pelvic involvement and often requires surgical management, with appendectomy typically resolving acute symptoms. However, recurrence of cyclical pain due to pelvic endometriosis may persist, underscoring the importance of comprehensive evaluation during laparoscopic procedures.

Conclusion: AA caused by AE is an uncommon condition, with very difficult preoperative diagnosis based solely on personal history, clinical presentation, and even imaging studies. It should be considered in differential diagnoses for women of reproductive age with associated pelvic endometriosis, although the recommended treatment in all cases is surgical.

Introduction and importance: Intussusception in the proximal bowel is extremely rare, with only a few reported cases of gastroduodenal intussusception (GDI). Gastrogastric intussusception is the rarest form of intussusception in adults. Here, we present an exceptionally rare case of gastro-gastric intussusception caused by a gastric Gastrointestinal Stromal Tumor (GIST).

Case presentation: A 36-year-old male presented with acute abdominal pain, suggestive of intussusception. The preoperative evaluation was unable to pinpoint the exact location or cause of the intussusception.

Clinical discussion: Intraoperative diagnosis of gastro-gastric intussusception was made, and the patient was treated with a gentle reduction of the intussusception, followed by a distal gastrectomy with Billroth I anastomosis. He was relieved of his symptoms and has been recurrence-free for the past two years.

Conclusions: Gastro-gastric intussusception is an exceedingly rare type of foregut intussusception, which presents with non-specific clinical presentation and commonly occurs in the presence of an underlying pathology. A delay in diagnosis and treatment may be fatal, so a high index of suspicion and early surgical management is paramount.

Introduction and importance: Neonatal appendicitis is a rare condition with high morbidity and mortality due to its late diagnosis in favor of more common pathologies. There are few reported cases of neonatal appendicitis and even fewer of antenatal appendicitis.

Case presentation: We report a neonate presenting with abdominal distention and gastric emesis in the setting of a suspected congenital abdominal mass, later diagnosed with neonatal appendicitis requiring intestinal resection and anastomosis.

Clinical discussion: Neonatal appendicitis presents with nonspecific symptoms and may often be mistaken for enterocolitis or intestinal malrotation. Additional imaging, including abdominal radiographs, ultrasound, or computed tomography, may facilitate diagnosis.

Conclusion: Neonatal appendicitis is a rare entity with a challenging diagnosis due to the lack of specific signs. In the current case, the patient was referred to our institution with an antenatal ultrasound showing a right flank mass which resulted in abscess formation and perforated appendicitis.