Surgery Case Reports最新文献_第3页

Endovascular repositioning of a ventriculoatrial shunt initially misplaced in the accessory hemiazygos vein: A salvage technique following surgical failure 腔内重新定位最初在副半奇静脉错位的心室-心房分流：手术失败后的抢救技术

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2025-11-25 DOI: 10.1016/j.sycrs.2025.100156

Massimiliano Domenico Rizzaro , Giorgio Fiore , Giulio Andrea Bertani , Luigi Schisano , Pierluca Torcia , Gaetano Amato , Stefania Elena Navone , Mauro Pluderi , Giovanni Marfia , Marco Locatelli

Introduction

Ventriculoatrial shunting (VAS) is an established treatment for hydrocephalus, utilizing the right atrium as a favorable site for cerebrospinal fluid (CSF) drainage due to its optimal pressure gradient relative to the intracranial compartment. However, malposition of the distal catheter into veins proximal to the heart can impair shunt function.

Case Presentation

We report the case of a 10-year-old girl with a history of postinfectious tetraventricular hydrocephalus treated with VAS. She presented with headaches and seizures accompanied by newly observed ventricular enlargement on magnetic resonance imaging (MRI). Suspecting shunt malfunction, surgical revision was undertaken, involving replacement of the valve and distal catheter. Postoperative imaging demonstrated malposition of the distal catheter into the accessory hemiazygos vein.

Management and Outcome

The catheter was successfully repositioned into the right atrium using a minimally invasive endovascular approach. The patient’s symptoms resolved, and follow-up imaging confirmed correct catheter placement and restored shunt function.

Conclusion

This case illustrates the utility of endovascular techniques for the management of distal VAS catheter malposition as a safe and effective alternative to open surgery. To our knowledge, this is the first reported case of distal catheter malposition into the accessory hemiazygos vein and its endovascular correction.

脑室房分流术（VAS）是脑积水的一种治疗方法，由于右心房相对于颅内室的压力梯度最佳，因此右心房是脑脊液（CSF）引流的有利部位。然而，远端导管在心脏近端静脉的错位会损害分流功能。病例介绍：我们报告一例10岁的女孩与感染后四脑室脑积水的历史与VAS治疗。她表现为头痛和癫痫发作，并伴有磁共振成像（MRI）新观察到的心室增大。怀疑分流故障，进行手术翻修，包括更换瓣膜和远端导管。术后影像显示远端导管错位进入副半奇静脉。处理和结果：采用微创血管内入路，成功将导管重新置入右心房。患者症状消失，随访影像证实导管放置正确，分流功能恢复。结论本病例说明了血管内技术在远端VAS导管错位治疗中的应用，是一种安全有效的开放手术替代方法。据我们所知，这是首例报道的远端导管错位进入副半奇静脉并进行血管内矫正的病例。

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引用次数: 0

Giant primary retroperitoneal granulosa cell tumor in a post-oophorectomy patient: A rare case report and a literature review 卵巢切除术后巨大原发性腹膜后颗粒细胞瘤：一例罕见病例报告及文献复习

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-26 DOI: 10.1016/j.sycrs.2026.100174

K.A.Nethuki Akithma Kulasinghe , Obuhovich Anneta Romualdovna , Yauheni Aliaksandravich Stasiukevich

Introduction

Primary retroperitoneal granulosa cell tumors (GCTs) are exceedingly rare, particularly in patients with prior bilateral oophorectomy, posing significant diagnostic challenges.

Case Presentation

A 69-year-old woman with multiple comorbidities and a history of hysterectomy with bilateral oophorectomy presented with a large retroperitoneal mass. Preoperative imaging demonstrated a well-defined fluid collection measuring 142 × 193 × 130 mm in the infra-pancreatic region, along with a tissue mass up to 59 × 50 × 33 mm in the left para-aortic area. These findings were consistent with a retroperitoneal mass. Tumor markers were non-contributory. Intraoperatively, the mass was identified as a giant retroperitoneal cyst and completely drained and excised via laparoscopic drainage and Pfannenstiel laparotomy. The definitive diagnosis was established post-operatively by pathohistological examination, which confirmed the lesion to be a Granulosa Cell Tumor.

Conclusion

This case underscores the importance of considering rare extra-gonadal GCTs in the differential diagnosis of retroperitoneal masses, even in post-oophorectomy patients. Complete surgical excision and long-term surveillance remain essential due to the risk of late recurrence.

原发性腹膜后颗粒细胞瘤（gct）极为罕见，特别是在既往双侧卵巢切除术的患者中，这给诊断带来了重大挑战。病例介绍：一名69岁女性，患有多种合并症，有子宫切除术和双侧卵巢切除术的病史，在腹膜后发现一个大肿块。术前影像表现一个定义良好的流体测量142 ×  193×130  mm infra-pancreatic地区,连同一个组织质量59 ×50  ×  33毫米左para-aortic区域。这些发现与腹膜后肿块一致。肿瘤标志物无贡献。术中，肿块被确定为巨大的腹膜后囊肿，并通过腹腔镜引流和Pfannenstiel剖腹手术完全引流并切除。术后病理组织学检查明确诊断为颗粒细胞瘤。结论本病例强调了考虑罕见的性腺外gct在腹膜后肿块鉴别诊断中的重要性，即使在卵巢切除术后患者中也是如此。由于晚期复发的风险，完全手术切除和长期观察仍然是必要的。

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引用次数: 0

A different bail-out scenario for chronic cholecystitis surgery: A case presentation 慢性胆囊炎手术的不同救市方案：一个案例介绍

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-16 DOI: 10.1016/j.sycrs.2026.100167

Doğuş Can Ekdal , Emil Jafarov , Hale Feratoğlu , Baha Tolga Demirbaş

Chronic cholecystitis, frequently caused by recurrent inflammation of gallbladder due to gallstones, can cause diagnostic challenges, particularly when it mimics gallbladder malignancy. This report describes a 63-year-old male with a medical history of diabetes mellitus and major depression, who presented with abdominal pain and jaundice due to gallstone impaction in the common bile duct. Initial management involved endoscopic retrograde cholangiopancreatography (ERCP) for stone extraction, followed by surgical intervention. During laparoscopy, extensive adhesions and a solid mass suspicious for gallbladder carcinoma were observed. Since solid mass led to gastric outlet obstruction intraoperative gastroscopy was performed. The gastroscopy revealed a stricture caused by external compression of mass in the first part of the duodenum. A gastroenterostomy was performed, and an incisional biopsy of the gallbladder was obtained. The histopathological evaluation resulted in non-diagnostic findings. The patient was re-evaluated by a multidisciplinary team with updated radiological imaging. An elective open cholecystectomy was successfully performed two months after the initial surgery. This case highlights the diagnostic challenges of chronic cholecystitis and presents a different bail-out scenario for gallstone ileus, emphasizing the importance of multidisciplinary decision-making and optimal timing in cases of acute-on-chronic cholecystitis.

慢性胆囊炎通常由胆结石引起的胆囊复发性炎症引起，可引起诊断挑战，特别是当它模仿胆囊恶性肿瘤时。本文报告一位63岁男性患者，既往有糖尿病和重度抑郁症病史，因胆总管结石嵌塞导致腹痛和黄疸。最初的治疗包括内窥镜逆行胆管造影（ERCP）用于结石取出，随后进行手术干预。腹腔镜检查发现广泛粘连及疑胆囊癌的实性肿块。因实性肿块导致胃出口梗阻，术中行胃镜检查。胃镜检查显示十二指肠前段有肿块外压引起的狭窄。进行了胃肠造口术，并对胆囊进行了切口活检。组织病理学检查无诊断结果。多学科团队对患者进行了重新评估，并更新了放射影像。首次手术后两个月成功行择期胆囊切除术。本病例强调了慢性胆囊炎的诊断挑战，并提出了胆石性肠梗阻的不同救助方案，强调了急性慢性胆囊炎病例中多学科决策和最佳时机的重要性。

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引用次数: 0

Giant mixed solid cystic parathyroid adenoma – Diagnostic and surgical challenges 巨大混合实性囊性甲状旁腺瘤-诊断和手术挑战

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2025-11-17 DOI: 10.1016/j.sycrs.2025.100150

Hanifa Akhtar , Ruuzeno Kuotsu , Sankappa P. Sinhasan , Md Jamil , Neizekhotuo Brian Shunyu , Pakesh Baishya , DebKumar Boruah , Nisha Kumari

Background

Giant parathyroid adenomas of cystic or mixed type are rare lesions that may mimic systemic or metabolic conditions such as gout and other musculoskeletal disorders. Overlap of symptoms often results in diagnostic delays and pose surgical challenges. We report a case of woman in her fifties who presented with two-year history of generalised weakness and joint pain, initially treated as gout. She later developed a progressive painful neck swelling and intermittent flank pain. Laboratory evaluation revealed severe hypercalcemia (15.5 mg/dL), markedly elevated parathyroid hormone (1528 pg/mL), and renal dysfunction. Ultrasonography demonstrated a large mixed solid cystic lesion posterior to the left thyroid lobe, and Technetium −99 Sestamibi scan confirmed a left upper parathyroid adenoma. Intraoperatively, a giant cystic mass (6.5 x 4×4 cm) densely adherent to the left thyroid lobe was found, requiring left hemithyroidectomy for complete excision. Histopathology confirmed a mixed solid cystic parathyroid adenoma without malignancy. The patient developed transient post operative hypocalcaemia, which was managed conservatively, and recovered uneventfully. This case underscores the importance of considering giant parathyroid adenomas in patients with hypercalcaemia and atypical local and systemic symptoms, as well as the need of careful surgical planning in managing giant or adherent parathyroid tumours.

巨大的囊性或混合型甲状旁腺瘤是罕见的病变，可能模仿全身或代谢疾病，如痛风和其他肌肉骨骼疾病。症状重叠常常导致诊断延迟，并给手术带来挑战。我们报告一个病例的妇女在她的五十谁提出了两年的全身性虚弱和关节疼痛的历史，最初治疗痛风。她后来出现渐进性颈部疼痛肿胀和间歇性侧腹疼痛。实验室评估显示严重的高钙血症（15.5 mg/dL），甲状旁腺激素显著升高（1528 pg/mL），肾功能不全。超声检查显示左侧甲状腺叶后方有一巨大的混合实性囊性病变，Technetium - 99 Sestamibi扫描证实为左侧甲状旁腺瘤。术中发现一个巨大的囊性肿块（6.5 x 4×4 cm）密集附着于左侧甲状腺叶，需要左侧半甲状腺切除术完全切除。组织病理证实为混合性实性囊性甲状旁腺瘤，无恶性。患者术后出现短暂性低钙血症，经保守治疗后恢复平稳。本病例强调了在高钙血症和非典型局部和全身症状患者中考虑巨大甲状旁腺腺瘤的重要性，以及在治疗巨大或附着的甲状旁腺肿瘤时需要仔细的手术计划。

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引用次数: 0

Extended surgical exposure in penetrating thoracic trauma: Combining clamshell thoracotomy and partial median sternotomy 胸穿透性创伤的扩大手术暴露：联合翻盖开胸术和部分正中胸骨切开术

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-28 DOI: 10.1016/j.sycrs.2026.100173

Can Kutlay , Gülşen Yılmaz , Ufuk Emre Keskin , Pınar Köksal Coşkun , Burçin Çayhan Karademir , Tevfik Kaplan , Serdar Han

Background

Trans-thoracic impalement injuries are exceedingly rare and are associated with extremely high prehospital mortality. When a penetrating object traverses multiple thoracic compartments, rapid selection of a surgical approach that provides extensive exposure is crucial for safe assessment and repair.

Case presentation

A 48-year-old male construction worker sustained trans-thoracic impalement after falling onto an iron rod. The object entered the right posterior axillary line and exited through the left anterior chest wall. The patient was hemodynamically stable and transferred directly to the operating room. A clamshell thoracotomy was initially performed, revealing that the rod traversed the right upper lobe and coursed close to mediastinal vascular structures. To allow better evaluation of potential vascular injury, a partial median sternotomy was added. The rod was found to have penetrated the superior vena cava, which was tamponaded by the object itself. After placement of purse-string sutures at the entry and exit sites of the venous injury, controlled removal of the rod was achieved via pulmonary tractotomy. The sternum was reconstructed with wire sutures. The postoperative course was uneventful, and the patient was discharged on postoperative day 10.

Conclusion

In complex trans-thoracic impalement injuries involving both pulmonary and mediastinal structures, no single incision may provide sufficient exposure. A combined clamshell thoracotomy and partial median sternotomy offers excellent visualization of multiple thoracic compartments and may facilitate safe management of life-threatening injuries.

背景：经胸穿刺伤极为罕见，且与极高的院前死亡率相关。当穿透物穿过多个胸间室时，快速选择提供广泛暴露的手术入路对于安全评估和修复至关重要。病例介绍：一名48岁男性建筑工人坠铁棒后经胸穿刺。异物进入右腋窝后线并从左胸壁出。患者血流动力学稳定，直接转入手术室。最初进行了翻盖开胸手术，发现棒穿过右上肺叶并靠近纵隔血管结构。为了更好地评估潜在的血管损伤，增加了部分正中胸骨切开术。杆子穿透了上腔静脉，而上腔静脉被物体本身堵塞了。在静脉损伤的入口和出口位置放置荷包线后，通过肺束切开术实现了控制棒的移除。胸骨用钢丝缝合重建。术后过程顺利，患者于术后第10天出院。结论复杂的胸椎穿刺伤累及肺和纵隔结构时，单切口不能提供足够的暴露。联合翻盖式开胸术和部分正中胸骨切开术提供了多个胸间室的良好可视化，并可能促进危及生命的损伤的安全处理。

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引用次数: 0

A lesson in misdiagnosis and multimodal diagnostic strategy for male urethral diverticulum with calculi: A case report 男性尿道憩室伴结石的误诊及多模式诊断策略1例

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-25 DOI: 10.1016/j.sycrs.2026.100169

Panpan Teng, Mingxi Yang, Shang Song

Background

Male urethral diverticulum combined with stones is clinically rare, with diverse symptoms that lack specificity, making it easily confused with common diseases such as urethral stones. Imaging examination, especially computed tomography (CT) alone, may lead to misdiagnosis.

Case Presentation

This report describes the case of a 62-year-old male with a urethral diverticulum complicated by stone formation. The patient presented with penile root pain. An initial CT scan at an outside hospital was misinterpreted as indicating a urethral stone, but subsequent urethroscopy revealed no stone. The diagnosis of a urethral diverticulum containing a stone was confirmed by retrograde urethrography and cystoscopy. The patient underwent open surgical diverticulotomy with stone extraction and repair of the urethral fistula, using a grid-pattern suturing technique. Postoperative recovery was uneventful with normal voiding.

Conclusion

This case highlights the importance of a multimodal diagnostic approach, including retrograde urethrography, for atypical presentations to avoid misdiagnosis, and demonstrates that meticulous surgical technique facilitates watertight urethral reconstruction.

男性尿道憩室合并结石临床罕见，症状多样，缺乏特异性，容易与尿道结石等常见病相混淆。影像学检查，特别是单独的计算机断层扫描（CT）可能导致误诊。病例介绍：本报告描述一62岁男性尿道憩室合并结石形成的病例。患者表现为阴茎根部疼痛。最初在医院外的CT扫描被误认为是尿道结石，但随后的尿道镜检查显示没有结石。通过逆行尿道造影和膀胱镜检查证实了尿道憩室含结石的诊断。患者行开腹手术憩室切开取石修复尿道瘘，采用网格缝合技术。术后恢复顺利，排尿正常。结论本病例强调了多模式诊断方法的重要性，包括逆行尿道造影，以避免误诊，并表明细致的手术技术有助于水密尿道重建。

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引用次数: 0

Management of a perforated gastric bypass after motor vehicle collision with complex revisional reconstruction: A case report 机动车碰撞后胃旁路穿孔的处理及复杂的修复重建：1例报告

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-25 DOI: 10.1016/j.sycrs.2026.100175

Jamie B. Hadley , Aaron S. Gilani , Adolfo Z. Fernandez , Andrew M. Nunn , Gregory R. Stettler

Altered anatomy secondary to bariatric surgery is an increasingly common challenge for operative planning in patients needing emergency surgical interventions. Bariatric surgical patients in general, and especially patients with prior Roux-en-Y gastric bypass (RYGB), present unique challenges in the emergency setting, where altered anatomy and difficulty obtaining prior operative information urgently may obscure diagnosis and complicate surgical management. Traumatic injuries to RYGB anatomy are rare but can result in devastating ischemic or perforating injuries requiring complex reconstruction. We report a case of a patient found to have RYGB anatomy following severe blunt trauma leading to hollow viscus perforation and peritonitis. The patient was found to have a destructive injury to their RYGB requiring complex reconstruction of a new RYGB configuration with appropriate limb lengths. The case highlights the importance of familiarity of anatomy associated with weight loss procedures and need for thoughtful, multidisciplinary approach to reconstruction to optimize both short and long-term patient outcomes.

在需要紧急手术干预的患者中，继发于减肥手术的解剖结构改变是手术计划中越来越常见的挑战。一般来说，减肥手术患者，特别是既往行Roux-en-Y胃旁路手术（RYGB）的患者，在急诊环境中面临着独特的挑战，其中解剖结构的改变和获取既往手术信息的困难可能会使诊断模糊并使手术管理复杂化。外伤性损伤RYGB解剖是罕见的，但可导致毁灭性的缺血性或穿孔损伤需要复杂的重建。我们报告一例患者发现有RYGB解剖后严重钝性创伤导致空心内脏穿孔和腹膜炎。患者被发现有一个破坏性的损伤，他们的RYGB需要复杂的重建一个新的RYGB配置与适当的肢体长度。该病例强调了熟悉与减肥手术相关的解剖学的重要性，以及需要深思熟虑的多学科方法来重建以优化患者的短期和长期结果。

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引用次数: 0

A case report of carcinoid tumor presenting as choledocholithiasis: An uncommon culprit in a common crime 以胆总管结石为表现的类癌肿瘤1例：常见犯罪中不常见的罪魁祸首

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-26 DOI: 10.1016/j.sycrs.2026.100168

Erin Park , Ryan Muchard , Laith Fada , Emma Karesh , Sanjiv Fitz-Morris Gray

Introduction

Primary gallbladder neuroendocrine tumors (NETs) are exceedingly rare, comprising < 1% of all NETs and approximately 2.3% of gallbladder malignancies. Due to their rarity and nonspecific presentation, they are frequently diagnosed incidentally following cholecystectomy for presumed benign biliary disease.

Case presentation

A 61-year-old female presented with right upper quadrant pain, nausea, vomiting, and intermittent fevers. Laboratory studies demonstrated leukocytosis, elevated alkaline phosphatase, and mildly elevated direct bilirubin. Imaging revealed acute calculous cholecystitis with choledocholithiasis. She underwent ERCP with removal of four pigment stones, followed by robotic cholecystectomy for persistent symptoms and gallbladder inflammation. Intraoperative findings included a friable gallbladder with dense adhesions and multiple gallstones. Final pathology revealed a well-differentiated, low-grade neuroendocrine tumor with positive chromogranin and synaptophysin staining and a low Ki-67 index. Surgical margins were negative. The patient recovered uneventfully and was discharged on postoperative day two.

Discussion

Gallbladder NETs often mimic benign biliary disease, contributing to a preoperative misdiagnosis rate exceeding 90%. Chronic inflammation and cholelithiasis may contribute to tumor development. Due to limited case numbers, management strategies are extrapolated from gallbladder adenocarcinoma guidelines, with surgical resection considered adequate for localized, low-grade disease.

Conclusion

Gallbladder neuroendocrine tumors are rare and frequently discovered incidentally after surgery for presumed benign pathology. This case highlights the importance of histopathologic evaluation and contributes to the limited literature guiding recognition and management of this uncommon malignancy.

原发性胆囊神经内分泌肿瘤（NETs）极为罕见，占所有NETs的<； 1%，约占胆囊恶性肿瘤的2.3%。由于其罕见和非特异性表现，它们经常被诊断为良性胆道疾病的胆囊切除术后偶然发现。病例表现一名61岁女性，表现为右上腹部疼痛、恶心、呕吐和间歇性发热。实验室研究显示白细胞增多，碱性磷酸酶升高，直接胆红素轻度升高。影像显示急性结石性胆囊炎合并胆总管结石。她接受ERCP切除4个色素结石，随后因持续症状和胆囊炎症接受机器人胆囊切除术。术中发现脆弱胆囊伴致密粘连及多发胆结石。最终病理显示为高分化、低级别神经内分泌肿瘤，嗜铬粒蛋白和突触素染色阳性，Ki-67指数低。手术切缘阴性。患者顺利康复，术后第2天出院。全膀胱NETs常与良性胆道疾病相似，导致术前误诊率超过90%。慢性炎症和胆石症可能促进肿瘤的发展。由于病例数量有限，治疗策略是从胆囊腺癌指南中推断出来的，手术切除被认为是局部的、低级别的疾病。结论全膀胱神经内分泌肿瘤是一种罕见的肿瘤，多为术后偶然发现，病理推定为良性。本病例强调了组织病理学评估的重要性，并有助于有限的文献指导认识和处理这种罕见的恶性肿瘤。

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引用次数: 0

Migration of ventriculoperitoneal shunt into the rectum: A case report and literature review 脑室-腹膜分流转移至直肠：1例报告及文献复习

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2026-02-16 DOI: 10.1016/j.sycrs.2026.100165

Adil Ahmed , Adnan Khan , Kivanc Yangi , Ismail Bozkurt , Bipin Chaurasia

Normal pressure hydrocephalus (NPH) is a reversible disease characterized by gait disorder, dementia, and urinary incontinence. Ventriculoperitoneal shunting (VPS) is the usual treatment, though rare complications like catheter migration can have serious implications. We report a 76-year-old male with NPH treated with VPS insertion using a programmable Medtronic Strata 2 valve. He had an initial good course but later developed anemia (Hb 4.3 g/dL) and rectal bleeding. Follow-up evaluation showed distal catheter migration, sigmoid colon perforation, and protrusion of the shunt through the rectum - a highly unusual complication. Surprisingly, he did not develop meningitis or peritonitis, perhaps because of localized inflammatory sealing. Initially, the patient was treated with antibiotics and blood transfusions before being admitted after observing the shunt in the anal canal. Imaging revealed colonic migration and necessitated immediate laparoscopic removal of the shunt and repair of the colon. Removal of the cranial end of the shunt was carried out by neurosurgery. He had a full recovery, resumed oral intake on day five, and was discharged with follow-up. Transanal VP shunt migration is a rare but serious complication, particularly in elderly or malnourished patients. Early recognition of gastrointestinal symptoms in shunted patients, such as rectal bleeding or anemia, is highlighted in this case. Suspicion is high, and immediate imaging is key. Counseling patients preoperatively about this rare complication should be stressed in high-risk patients.

常压脑积水（NPH）是一种可逆性疾病，以步态障碍、痴呆和尿失禁为特征。脑室-腹膜分流术（VPS）是常用的治疗方法，尽管像导管移位这样的罕见并发症可能有严重的影响。我们报告一位76岁男性NPH患者，使用可编程美敦力Strata 2瓣膜进行VPS插入治疗。他最初病程良好，但后来出现贫血（Hb 4.3 g/dL）和直肠出血。随访评估显示导管远端移位，乙状结肠穿孔，分流器通过直肠突出，这是一个非常罕见的并发症。令人惊讶的是，他没有患上脑膜炎或腹膜炎，这可能是因为局部炎症性封闭。在观察到肛管分流后，患者在入院前接受了抗生素和输血治疗。影像学显示结肠迁移，需要立即腹腔镜切除分流器并修复结肠。通过神经外科手术切除分流器的颅端。患者完全康复，第5天恢复口服，随访出院。经肛门VP分流迁移是一种罕见但严重的并发症，特别是在老年人或营养不良的患者中。在分流病人中，早期识别胃肠道症状，如直肠出血或贫血，在本病例中被强调。嫌疑很大，而快速成像是关键。高危患者术前应强调对这一罕见并发症的咨询。

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引用次数: 0

A unique case of olfactory nerve ganglioglioma in neurofibromatosis type 1 1型神经纤维瘤病嗅觉神经节胶质瘤一例

Surgery Case Reports

Pub Date : 2026-03-01 Epub Date: 2025-11-17 DOI: 10.1016/j.sycrs.2025.100155

Massimiliano Domenico Rizzaro , Giulio Andrea Bertani , Gianluca Lopez , Federica Natacci , Stefania Elena Navone , Giovanni Marfia , Marco Locatelli

Introduction

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant neurocutaneous disorder caused by pathogenic variants in the NF1 gene. This gene encodes neurofibromin, a tumor suppressor involved in negative regulation of the RAS/mTOR signaling pathway. While cutaneous neurofibromas and gliomas are common manifestations, glioneuronal tumors are rare in NF1.

Case presentation

We report the case of a 33-year-old man with genetically confirmed NF1, who presented with café-au-lait macules, cutaneous neurofibromas, and bilateral sensorineural hearing loss. Follow-up brain MRI revealed two contrast-enhancing lesions: one at the apex of the left petrous ridge, and another intraparenchymal mass in the left frontobasal region involving the ipsilateral olfactory nerve. The frontobasal lesion showed increased FDG uptake on PET imaging. The patient underwent microsurgical resection of this lesion. Intraoperatively, the mass was found to infiltrate the left olfactory bulb. Histopathological analysis confirmed a WHO grade I ganglioglioma, with no evidence of malignant transformation.

Conclusion

To our knowledge, this represents the first reported case of an olfactory nerve ganglioglioma in a patient with NF1. This finding suggests a possible novel association between NF1 and neuronal tumors affecting cranial nerve I. Further studies are warranted to explore the role of NF1 in glioneuronal tumorigenesis.

1型神经纤维瘤病（NF1），也称为von Recklinghausen病，是一种常染色体显性神经皮肤疾病，由NF1基因的致病变异引起。该基因编码神经纤维蛋白，一种参与RAS/mTOR信号通路负调控的肿瘤抑制因子。皮肤神经纤维瘤和胶质瘤是常见的表现，胶质神经元肿瘤在NF1中是罕见的。我们报告一例33岁男性遗传确诊NF1的病例，他表现为卡萨梅-au-lait斑疹、皮肤神经纤维瘤和双侧感音神经性听力损失。后续脑部MRI显示两个增强病变：一个在左侧岩脊顶端，另一个在左侧额基底区实质内肿块，累及同侧嗅神经。额基底病变在PET成像上显示FDG摄取增加。患者接受显微外科手术切除该病变。术中发现肿块浸润左侧嗅球。组织病理学分析证实为WHO一级神经节胶质瘤，无恶性转化迹象。结论：据我们所知，这是NF1患者嗅觉神经节胶质瘤的第一例报道。这一发现表明NF1与影响脑神经i的神经元肿瘤之间可能存在新的联系，需要进一步的研究来探索NF1在胶质神经元肿瘤发生中的作用。

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引用次数: 0