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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
Pub 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
Primary nasopharyngeal germinal center Diffuse Large B Cell Lymphoma (DLBCL) presenting with multiple cranial neuropathies and skull base invasion: A case report 原发性鼻咽部生发中枢弥漫性大B细胞淋巴瘤(DLBCL)表现为多发性颅神经病变和颅底侵犯:1例报告
Pub Date : 2025-11-17 DOI: 10.1016/j.sycrs.2025.100152
Irfan Ahmed Shaikh , Ayesha Rasheed , Syed Faizan Ali , Mutiba Aslam , Sadaf Zia , Haissan Iftikhar
Primary nasopharyngeal lymphoma is an uncommon manifestation of extra-nodal non-Hodgkin lymphoma. Additionally, diffuse large B-cell lymphoma (DLBCL) of germinal center origin in this location is exceptionally rare. Here, we report a case of a 60-year-old male presenting with bilateral nasal obstruction, blood-stained discharge, and left-sided ptosis, associated with oculomotor, abducens, and trigeminal nerve palsies. Imaging demonstrated a destructive nasopharyngeal mass with skull base erosion and intracranial erosion without nodal or systemic disease. Histopathology showed sheets of atypical lymphoid cells positive for CD20, CD10, BCL6, and c-MYC, consistent with high-grade germinal center DLBCL. After receiving two cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone), the patient showed remarkable neurological improvement. To the best of our knowledge, this is the first case in Pakistan of primary nasopharyngeal germinal center DLBCL with multiple cranial neuropathies and skull base invasion. This case underscores the importance of considering lymphoma as a differential in nasopharyngeal masses with cranial nerve involvement. This case demonstrates that prompt histological diagnosis and timely chemotherapy can achieve favorable outcomes, even in cases with extensive local invasion but no systemic spread.
原发性鼻咽淋巴瘤是结外非霍奇金淋巴瘤的一种罕见表现。此外,生发中心起源于该部位的弥漫性大b细胞淋巴瘤(DLBCL)极为罕见。在此,我们报告一个60岁男性的病例,表现为双侧鼻塞、带血分泌物和左侧上睑下垂,并伴有动眼神经、外展神经和三叉神经麻痹。影像学表现为破坏性鼻咽肿块伴颅底糜烂及颅内糜烂,无淋巴结或全身性疾病。组织病理学显示非典型淋巴样细胞CD20、CD10、BCL6和c-MYC阳性,与高级别生发中心DLBCL一致。在接受两个周期的R-CHOP(利妥昔单抗、环磷酰胺、阿霉素、长春新碱、强的松)治疗后,患者神经系统有明显改善。据我们所知,这是巴基斯坦第一例原发性鼻咽部生发中心DLBCL合并多发性颅脑神经病变和颅底侵犯的病例。这个病例强调了在颅神经受累的鼻咽肿块中考虑淋巴瘤的重要性。该病例表明,即使是局部广泛侵袭但无全身扩散的病例,及时的组织学诊断和及时的化疗也能取得良好的结果。
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引用次数: 0
A review of the literature and a rare case report of seromucinous hamartoma of the sinus cavity 文献回顾及一例罕见的窦腔浆液黏液错构瘤的报告
Pub Date : 2025-11-17 DOI: 10.1016/j.sycrs.2025.100154
Walid Bijou, Fadoua El Mourabit, Meryem Loudghiri, Youssef Oukessou, Sami Rouadi, Reda Abada, Mohamed Roubal, Mohamed Mahtar

Background

Seromucinous hamartoma is a rare benign lesion of the sinonasal tract that may mimic more common entities such as nasal polyps or inverted papillomas. Early recognition is crucial to avoid unnecessary aggressive treatment.

Case presentation

We report the case of a 63-year-old man who presented with progressive right-sided nasal obstruction and watery rhinorrhea evolving over one year. Nasal endoscopy revealed a polypoid mass completely filling the right nasal cavity. Computed tomography and magnetic resonance imaging showed a well-defined lesion without bone destruction or local invasion. Complete endoscopic excision was performed, and histopathological examination confirmed the diagnosis of seromucinous hamartoma. The postoperative course was uneventful, and the patient remained symptom-free with no recurrence at the two-month follow-up.

Conclusion

Although rare, seromucinous hamartoma should be included in the differential diagnosis of unilateral nasal masses. Endoscopic resection is both diagnostic and curative, offering excellent outcomes and prognosis.
背景:浆液黏液性错构瘤是一种罕见的鼻道良性病变,可能类似于更常见的实体,如鼻息肉或内翻性乳头状瘤。早期识别对于避免不必要的积极治疗至关重要。我们报告一个63岁男性的病例,他表现为进行性右侧鼻塞和水样鼻漏,病程超过一年。鼻内窥镜显示息肉样肿块完全填满右鼻腔。计算机断层扫描和磁共振成像显示病灶清晰,无骨破坏或局部浸润。经内镜完全切除,组织病理学检查证实为浆液黏液错构瘤。术后过程平稳,患者在两个月的随访中无症状复发。结论浆液黏液错构瘤虽罕见,但应列入单侧鼻肿块的鉴别诊断。内窥镜切除是诊断和治疗,提供良好的结果和预后。
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引用次数: 0
Re: Primordial odontogenic tumor of the Maxilla: A case report 上颌原发牙源性肿瘤1例
Pub Date : 2025-11-17 DOI: 10.1016/j.sycrs.2025.100151
Bhushan Sharma , George Koshy , Sonal Grover , Deepti Sharma
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引用次数: 0
Two-step treatment with laparoscopic fistula closure for colocutaneous fistula secondary to sigmoid colon diverticulitis without colonic resection: A case report 腹腔镜下两步治疗乙状结肠憩室炎继发结肠皮瘘,不需结肠切除术1例
Pub Date : 2025-11-17 DOI: 10.1016/j.sycrs.2025.100153
Shima Asano , Chikai Mitsuhara , Masayoshi Nishihara , Naoya Ozawa

Background

Colocutaneous fistula is a rare complication of diverticulitis, typically requiring surgical colonic resection. However, surgery for complicated diverticulitis entails risks such as anastomotic leakage or creation of a stoma, both of which can adversely affect quality of life. Here, we present a case of a colocutaneous fistula treated with a two-step approach: cutaneous drainage with antibiotics followed by laparoscopic fistula closure to avoid colonic resection.

Case Presentation

A man in his 70 s was referred to our emergency room (ER) with a 2-day history of fever and right lower quadrant abdominal pain. A computed tomography (CT) scan revealed sigmoid diverticulitis with an intra-abdominal abscess, and percutaneous drainage was performed. Following drainage and antibiotic therapy, his symptoms improved, and he was subsequently discharged. Seven days later, he returned to the ER with recurrent symptoms and purulent discharge from the drainage site. He was readmitted, and a CT scan revealed an enlarged intra-abdominal mass. Additional drainage was performed by reopening the scar. Contrast imaging revealed a colocutaneous fistula. Following two hospitalizations for intra-abdominal abscess management, an elective laparoscopic fistula closure was undertaken. He was discharged on postoperative day 15 and continued with routine follow-up.

Conclusion

For patients with colocutaneous fistula and diverticulitis, a two-step approach—initial cutaneous drainage with antibiotics followed by laparoscopic fistula closure—offers a viable alternative to immediate colonic resection, minimizing surgical risks and reserving resection as a future option.
背景:结皮瘘是憩室炎的罕见并发症,通常需要结肠手术切除。然而,手术治疗复杂性憩室炎会带来吻合口漏或造口等风险,这两种风险都会对生活质量产生不利影响。在这里,我们提出一个病例的结肠皮瘘治疗两步的方法:皮肤引流抗生素后腹腔镜瘘关闭,以避免结肠切除。病例介绍:一名70岁 的男子因发烧和右下腹疼痛2天被转介到我们的急诊室。计算机断层扫描显示乙状结肠憩室炎伴腹腔内脓肿,行经皮引流术。引流和抗生素治疗后,患者症状好转,随后出院。7天后,患者以复发症状和引流处脓性分泌物返回急诊室。他再次入院,CT扫描显示腹内肿块增大。通过重新打开疤痕进行进一步引流。造影显示一结肠皮肤瘘管。在两次因腹内脓肿住院治疗后,进行了选择性腹腔镜瘘管闭合。术后第15天出院,继续常规随访。结论:对于结皮瘘和憩室炎患者,两步入路——首先用抗生素进行皮肤引流,然后腹腔镜下闭合瘘——是立即结肠切除术的可行选择,可以将手术风险降到最低,并将切除保留为未来的选择。
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引用次数: 0
Surgical resection of inoperable Lynch syndrome-related colorectal cancer following pembrolizumab treatment: Report of two cases 派姆单抗治疗后不能手术的Lynch综合征相关结直肠癌手术切除:2例报告
Pub Date : 2025-11-17 DOI: 10.1016/j.sycrs.2025.100149
Yuki Matsumi , Kunitoshi Shigeyasu , Daisuke Kadowaki , Yusuke Yoshida , Ryohei Shoji , Yuya Sakurai , Nobuhiko Kanaya , Yoshitaka Kondo , Hideki Yamamoto , Takehiro Tanaka , Fuminori Teraishi , Shunsuke Kagawa , Toshiyoshi Fujiwara
Recent therapeutic advances have dramatically improved outcomes in patients with colorectal cancer (CRC) with mismatch repair deficiency (dMMR) or high microsatellite instability (MSI). Approximately 20 % of patients with MSI-high CRC have Lynch syndrome, but few studies have reported the conversion of unresectable CRC to surgery in patients with Lynch syndrome. Here, we present two patients with dMMR/MSI-high CRC who successfully converted to surgery for tumor resection. Case 1 was a 73-year-old male patient diagnosed with MSI-high rectal cancer, which was unresectable due to extensive posterior infiltration. Pembrolizumab treatment led to a reduction in tumor size, allowing laparoscopic residual rectal resection. Case 2 was a 33-year-old female patient diagnosed with Stage IIIC descending colon cancer with iliopsoas muscle infiltration. The family history suggested a hereditary predisposition to CRC, and MSI testing led to the diagnosis of MSI-high CRC. The iliopsoas muscle infiltration prevented curative resection, but pembrolizumab treatment led to a reduction in tumor size, and the patient underwent laparoscopic partial resection of the descending colon. In both patients, postoperative genetic testing led to the definitive diagnosis of Lynch syndrome. The two cases illustrate the remarkable response of Lynch syndrome-associated CRC to pembrolizumab treatment, which allowed for conversion resection.
最近的治疗进展显著改善了错配修复缺陷(dMMR)或高微卫星不稳定性(MSI)结直肠癌(CRC)患者的预后。大约20% %的msi高CRC患者有Lynch综合征,但很少有研究报道Lynch综合征患者不可切除的CRC转化为手术。在这里,我们报告了两例dMMR/ msi高的结直肠癌患者,他们成功地转化为手术切除肿瘤。病例1是一名73岁男性患者,诊断为msi高直肠癌,由于广泛的后部浸润而无法切除。Pembrolizumab治疗导致肿瘤大小减小,允许腹腔镜残余直肠切除术。病例2是一名33岁的女性患者,诊断为IIIC期降结肠癌伴髂腰肌浸润。家族史提示CRC的遗传易感性,MSI检测导致MSI高CRC的诊断。髂腰肌浸润阻碍了根治性切除,但派姆单抗治疗导致肿瘤大小减小,患者接受了腹腔镜降结肠部分切除术。两例患者术后基因检测均明确诊断为Lynch综合征。这两个病例说明Lynch综合征相关CRC对派姆单抗治疗的显着反应,允许转换切除。
{"title":"Surgical resection of inoperable Lynch syndrome-related colorectal cancer following pembrolizumab treatment: Report of two cases","authors":"Yuki Matsumi ,&nbsp;Kunitoshi Shigeyasu ,&nbsp;Daisuke Kadowaki ,&nbsp;Yusuke Yoshida ,&nbsp;Ryohei Shoji ,&nbsp;Yuya Sakurai ,&nbsp;Nobuhiko Kanaya ,&nbsp;Yoshitaka Kondo ,&nbsp;Hideki Yamamoto ,&nbsp;Takehiro Tanaka ,&nbsp;Fuminori Teraishi ,&nbsp;Shunsuke Kagawa ,&nbsp;Toshiyoshi Fujiwara","doi":"10.1016/j.sycrs.2025.100149","DOIUrl":"10.1016/j.sycrs.2025.100149","url":null,"abstract":"<div><div>Recent therapeutic advances have dramatically improved outcomes in patients with colorectal cancer (CRC) with mismatch repair deficiency (dMMR) or high microsatellite instability (MSI). Approximately 20 % of patients with MSI-high CRC have Lynch syndrome, but few studies have reported the conversion of unresectable CRC to surgery in patients with Lynch syndrome. Here, we present two patients with dMMR/MSI-high CRC who successfully converted to surgery for tumor resection. Case 1 was a 73-year-old male patient diagnosed with MSI-high rectal cancer, which was unresectable due to extensive posterior infiltration. Pembrolizumab treatment led to a reduction in tumor size, allowing laparoscopic residual rectal resection. Case 2 was a 33-year-old female patient diagnosed with Stage IIIC descending colon cancer with iliopsoas muscle infiltration. The family history suggested a hereditary predisposition to CRC, and MSI testing led to the diagnosis of MSI-high CRC. The iliopsoas muscle infiltration prevented curative resection, but pembrolizumab treatment led to a reduction in tumor size, and the patient underwent laparoscopic partial resection of the descending colon. In both patients, postoperative genetic testing led to the definitive diagnosis of Lynch syndrome. The two cases illustrate the remarkable response of Lynch syndrome-associated CRC to pembrolizumab treatment, which allowed for conversion resection.</div></div>","PeriodicalId":101189,"journal":{"name":"Surgery Case Reports","volume":"7 ","pages":"Article 100149"},"PeriodicalIF":0.0,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145580230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Pub 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。
{"title":"Giant mixed solid cystic parathyroid adenoma – Diagnostic and surgical challenges","authors":"Hanifa Akhtar ,&nbsp;Ruuzeno Kuotsu ,&nbsp;Sankappa P. Sinhasan ,&nbsp;Md Jamil ,&nbsp;Neizekhotuo Brian Shunyu ,&nbsp;Pakesh Baishya ,&nbsp;DebKumar Boruah ,&nbsp;Nisha Kumari","doi":"10.1016/j.sycrs.2025.100150","DOIUrl":"10.1016/j.sycrs.2025.100150","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div>","PeriodicalId":101189,"journal":{"name":"Surgery Case Reports","volume":"7 ","pages":"Article 100150"},"PeriodicalIF":0.0,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145580228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Pub 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。
{"title":"A unique case of olfactory nerve ganglioglioma in neurofibromatosis type 1","authors":"Massimiliano Domenico Rizzaro ,&nbsp;Giulio Andrea Bertani ,&nbsp;Gianluca Lopez ,&nbsp;Federica Natacci ,&nbsp;Stefania Elena Navone ,&nbsp;Giovanni Marfia ,&nbsp;Marco Locatelli","doi":"10.1016/j.sycrs.2025.100155","DOIUrl":"10.1016/j.sycrs.2025.100155","url":null,"abstract":"<div><h3>Introduction</h3><div>Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant neurocutaneous disorder caused by pathogenic variants in the <em>NF1</em> 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.</div></div><div><h3>Case presentation</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101189,"journal":{"name":"Surgery Case Reports","volume":"7 ","pages":"Article 100155"},"PeriodicalIF":0.0,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Juvenile granulosa cell tumor of the ovary: Case report 卵巢幼年颗粒细胞瘤1例
Pub Date : 2025-09-25 DOI: 10.1016/j.sycrs.2025.100144
Wissal Jaafar, Zied Louati, Yasmine Chiba, Medemagh Malak, Ines Hfaiedh, Mehdi Bouassida, Hamed Jemel, Cherifa Ben Sethom, Nahed Khalifa, Mechaal Mourali
Juvenile granulosa cell tumors (JGCTs) are rare ovarian neoplasms belonging to the sex cord–stromal tumor group, accounting for a small proportion of ovarian malignancies in children and adolescents. They may present with abdominal symptoms or signs of hormonal activity. We report the case of a 15-year-old girl with no history of precocious puberty who presented with pelvic pain and progressive abdominal bloating. There were no signs of hyperandrogenism or estrogen excess. Pelvic ultrasound revealed a large unilateral adnexal mass, and tumor markers were within normal limits. The patient underwent exploratory laparotomy, which identified an enlarged ovary with an intact capsule. A unilateral adnexectomy was performed, preserving the contralateral ovary and uterus. Histopathological examination confirmed the diagnosis of a juvenile granulosa cell tumor, characterized by Call-Exner bodies and nuclear grooves. No extra-ovarian spread was observed. The postoperative course was uneventful, and the patient was discharged on day five. Follow-up at six months showed no evidence of recurrence. JGCTs should be considered in the differential diagnosis of ovarian masses in adolescents, even in the absence of hormonal symptoms. Early diagnosis and fertility-sparing surgery can provide favorable outcomes, with close postoperative surveillance essential to detect recurrence.
青少年颗粒细胞瘤(jgct)是一种罕见的卵巢肿瘤,属于性索间质肿瘤组,在儿童和青少年卵巢恶性肿瘤中占很小的比例。他们可能会出现腹部症状或激素活动的迹象。我们报告的情况下,15岁的女孩没有性早熟的历史谁提出盆腔疼痛和进行性腹胀。没有雄激素过多或雌激素过量的迹象。盆腔超声显示单侧附件大肿块,肿瘤标志物正常。患者接受剖腹探查,发现卵巢肿大,包膜完好。行单侧附件切除术,保留对侧卵巢和子宫。组织病理学检查证实了一个少年颗粒细胞瘤的诊断,以Call-Exner小体和核沟为特征。未见卵巢外扩散。术后过程顺利,患者于第5天出院。随访6个月无复发迹象。在青少年卵巢肿块的鉴别诊断中,即使没有激素症状,也应考虑jgct。早期诊断和保留生育能力的手术可以提供良好的结果,密切的术后监测是发现复发的必要条件。
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引用次数: 0
Unusual lesions of the pancreas: A case series and review of the literature 胰腺异常病变:病例系列及文献回顾
Pub Date : 2025-09-22 DOI: 10.1016/j.sycrs.2025.100147
Kayla R. Widdowson , Max D. Hazeltine , Sebastian K. Chung , Lauren Scarpetti , Michelle Yang , James M. Lindberg
Lesions of the pancreas are commonly found, particularly with increased use of cross-sectional imaging. While there are a few well-described entities, atypical benign masses remain a diagnostic challenge and may mimic malignancy, leading to uncertainty in management. We present four cases of unusual, benign pancreatic lesions managed at a tertiary care center. While initially concerning for malignancy based on imaging and clinical presentation, these cases were ultimately diagnosed as a torsed ectopic splenule, lymphoepithelial cyst, benign simple mucinous cyst, and chronic mass-forming pancreatitis. Evaluation included imaging, endoscopic ultrasound, and tissue sampling. All patients underwent surgical resection, with final diagnoses confirmed through intraoperative findings and histopathology. A brief literature review was conducted for each entity to summarize distinguishing clinical, radiographic, and pathologic features. Further description of these atypical entities may help clinicians with appropriate diagnosis and guide treatment decisions.
胰腺病变是常见的,特别是随着横断面成像的使用增加。虽然有一些描述良好的实体,但非典型良性肿块仍然是诊断上的挑战,可能模仿恶性肿瘤,导致治疗的不确定性。我们提出了四个不寻常的病例,良性胰腺病变管理三级保健中心。这些病例最初根据影像学和临床表现考虑为恶性肿瘤,最终诊断为扭曲异位脾、淋巴上皮囊肿、良性单纯性粘液囊肿和慢性团块性胰腺炎。评估包括影像学、内窥镜超声和组织取样。所有患者均行手术切除,最终诊断通过术中发现和组织病理学证实。我们对每个实体进行了简短的文献回顾,以总结其临床、影像学和病理特征。对这些非典型实体的进一步描述可以帮助临床医生做出适当的诊断和指导治疗决策。
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引用次数: 0
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