Journal of neurosurgery. Case lessons最新文献

De novo aneurysm formation on choroidal anastomosis during pregnancy in moyamoya disease: illustrative case. 烟雾病妊娠期脉络膜吻合处新生动脉瘤形成：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE25112

Yasunori Yokochi, Hideo Chihara, Takeshi Funaki, Maya Komatsu, Yoshitsugu Chigusa, Kenichiro Tatsumi, Etsuko Yamamoto Hattori, Yoshiki Arakawa

{"title":"De novo aneurysm formation on choroidal anastomosis during pregnancy in moyamoya disease: illustrative case.","authors":"Yasunori Yokochi, Hideo Chihara, Takeshi Funaki, Maya Komatsu, Yoshitsugu Chigusa, Kenichiro Tatsumi, Etsuko Yamamoto Hattori, Yoshiki Arakawa","doi":"10.3171/CASE25112","DOIUrl":"10.3171/CASE25112","url":null,"abstract":"Background: Hemorrhagic stroke during pregnancy can cause devastating outcomes in women with moyamoya disease (MMD). The bleeding risk associated with choroidal anastomosis, a unique collateral manifestation of MMD, remains unknown in the context of pregnancy.Observations: A 29-year-old woman with asymptomatic MMD became pregnant. She had not undergone bypass surgery, and choroidal anastomosis had developed in the right hemisphere. After an uneventful pregnancy for 34 weeks, she suddenly manifested HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome and underwent an emergency cesarean section. Although both she and her neonate remained healthy, MR angiography after delivery revealed on the choroidal anastomosis a small aneurysm, which had been absent before conception, with the possible finding of minor bleeding. After recovering from HELLP syndrome, she underwent direct bypass surgery, which resulted in the disappearance of the aneurysm and marked reduction of the choroidal anastomosis.Lessons: Choroidal anastomosis may carry a potential risk of aneurysm formation causing bleeding and should be carefully monitored with noninvasive imaging modalities during the antenatal and postpartum periods. https://thejns.org/doi/10.3171/CASE25112.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Retiform endothelial hyperplasia with growing hematoma within a vestibular schwannoma 30 years after Gamma Knife radiosurgery: histopathological evaluation of the lesion and the tumor. Illustrative case. 伽玛刀放射治疗后30年前庭神经鞘瘤视网膜内皮增生伴血肿：病变和肿瘤的组织病理学评估。说明情况。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE2537

Yoshiharu Takahashi, Taketo Nishizawa, Ryutaro Suzuki, Kazuhiro Murakami, Jun Kawagishi, Hidefumi Jokura, Tatsuya Sasaki, Toshiki Endo

{"title":"Retiform endothelial hyperplasia with growing hematoma within a vestibular schwannoma 30 years after Gamma Knife radiosurgery: histopathological evaluation of the lesion and the tumor. Illustrative case.","authors":"Yoshiharu Takahashi, Taketo Nishizawa, Ryutaro Suzuki, Kazuhiro Murakami, Jun Kawagishi, Hidefumi Jokura, Tatsuya Sasaki, Toshiki Endo","doi":"10.3171/CASE2537","DOIUrl":"10.3171/CASE2537","url":null,"abstract":"Background: Gamma Knife radiosurgery (GKRS) is an established therapeutic modality for vestibular schwannomas. However, various late-onset complications, including mass lesions resembling cavernous malformations, have been reported. Retiform endothelial hyperplasia (RFEH), a distinct vascular pathology, has recently been identified as a potential late-onset complication of GKRS for arteriovenous malformations. This report describes the first case of RFEH developing within a vestibular schwannoma 30 years after GKRS, necessitating surgical enucleation.Observations: A 54-year-old man was diagnosed with a right-sided vestibular schwannoma at age 23 years and underwent GKRS with a dose of 13.6 Gy (40% isodose). The tumor exhibited long-term regression; however, at the 28-year follow-up, MRI revealed a progressively enlarging low-intensity T2-weighted ring within the tumor. At 30 years post-GKRS, resection was performed, revealing a well-circumscribed, encapsulated, hematoma-like lesion within the yellowish schwannoma. Histopathological analysis showed an old hematoma with irregular endothelium-lined cavities lacking fibrous or smooth muscle layers, confirming the diagnosis of RFEH. The surrounding tumor cells were S-100 protein-positive with a Ki-67 labeling index of 3%.Lessons: RFEH can develop within a vestibular schwannoma decades after GKRS, extending its known association beyond arteriovenous malformations. Recognizing this unique complication is critical for optimal patient management and surgical decision-making. https://thejns.org/doi/10.3171/CASE2537.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Technical aspects of performing a hemivertebrectomy for adolescent congenital scoliosis: Illustrative case. 青少年先天性脊柱侧凸半椎体切除术的技术方面：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE25244

Aaron Gelinne, Allie L Harbert, Lauren E Corliss, Michael A Galgano

{"title":"Technical aspects of performing a hemivertebrectomy for adolescent congenital scoliosis: Illustrative case.","authors":"Aaron Gelinne, Allie L Harbert, Lauren E Corliss, Michael A Galgano","doi":"10.3171/CASE25244","DOIUrl":"10.3171/CASE25244","url":null,"abstract":"Background: Hemivertebrae (HVs) are congenital spinal anomalies that disrupt normal vertebral formation, often leading to progressive spinal deformity. Segmented HV-associated scoliosis presents significant surgical challenges, requiring meticulous planning and precise execution for optimal outcomes.Observations: A 12-year-old female presented with severe lumbar scoliosis (75° focal curve) due to a fully segmented supernumerary HV at L3-4, causing coronal trunk shift, pelvic obliquity, and activity-limiting back pain. A short-segment L1-5 posterior instrumented fusion with vertebral column resection was performed using stereotactic navigation for pedicle screw placement and a modular screw system to optimize surgical access. The HV was resected using ultrasonic bone-cutting instruments, osteotomes, and a coarse diamond drill. Deformity correction was achieved through controlled compression and distraction forces with cobalt-chromium rods. Postoperatively, the patient experienced transient radicular pain, which resolved within 4 weeks with conservative management.Lessons: This case highlights the challenges of delayed HV detection and the importance of advanced surgical techniques for deformity correction. Stereotactic navigation, modular instrumentation, and careful execution of a hemivertebrectomy facilitated optimal correction while preserving mobility in adjacent spinal regions. A tailored approach is critical for long-term stability and functional outcomes. https://thejns.org/doi/10.3171/CASE25244.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A role for early surgical intervention in childhood low-grade glioma? Illustrative case. 早期手术干预在儿童低级别胶质瘤中的作用？说明情况。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE2584

Youngkyung Jung, Julia Dirks, Cynthia Hawkins, Uri Tabori, Anirban Das, Julie Bennett, Peter Dirks, Jennifer L Quon

{"title":"A role for early surgical intervention in childhood low-grade glioma? Illustrative case.","authors":"Youngkyung Jung, Julia Dirks, Cynthia Hawkins, Uri Tabori, Anirban Das, Julie Bennett, Peter Dirks, Jennifer L Quon","doi":"10.3171/CASE2584","DOIUrl":"10.3171/CASE2584","url":null,"abstract":"Background: IDH-mutant diffuse gliomas are considered low grade, albeit with a propensity for malignant behavior over time, distinguishing them from pediatric-type low-grade gliomas. IDH-mutant tumors have astrocytic or oligodendrocytic phenotypes associated with TP53 and ATRX mutations or 1p/19q deletions, respectively. TP53 mutations are associated with a tumor that acquires malignant properties characteristic of glioblastoma with subsequent very poor survival.Observations: The authors present the case of a 12-year-old female who presented with an incidental T2-FLAIR bright lesion in the right frontal lobe. Although clinically asymptomatic, there was interval minimal but definite growth on serial imaging over 5 years, and she underwent resection. Molecular pathology indicated an isolated IDH1 mutation, without cooperating molecular changes.Lessons: IDH-mutant gliomas, although typically an adult disease, may be diagnosed in childhood or adolescence. This early diagnosis of a tumor before it has acquired cooperating events suggests childhood origin and long latency for this more typical adult tumor. Early recognition and treatment of these tumors, before they reach their full malignant potential, may yield therapeutic benefit. Surgery may also play a key role to eliminate neoplastic cells and the acquisition of more fully malignant clones that may become more aggressive and drive disease progression many years later. https://thejns.org/doi/10.3171/CASE2584.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diffuse midline glioma H3K27-altered with thoracic epidural metastasis: illustrative case. 弥漫性中线胶质瘤h3k27伴胸椎硬膜外转移：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE25249

Kan Sumita, Masahiro Sawada, Etsuko Yamamoto Hattori, Noritaka Sano, Shigeki Takada, Masahiro Tanji, Yohei Mineharu, Takayuki Kikuchi, Yoshiki Arakawa

{"title":"Diffuse midline glioma H3K27-altered with thoracic epidural metastasis: illustrative case.","authors":"Kan Sumita, Masahiro Sawada, Etsuko Yamamoto Hattori, Noritaka Sano, Shigeki Takada, Masahiro Tanji, Yohei Mineharu, Takayuki Kikuchi, Yoshiki Arakawa","doi":"10.3171/CASE25249","DOIUrl":"10.3171/CASE25249","url":null,"abstract":"Background: Diffuse midline glioma (DMG) H3K27-altered is a newly recognized diffuse high-grade tumor entity in the 5th edition of the WHO classification of CNS tumors. Spinal extradural metastasis is extremely rare in patients with DMG H3K27-altered, while the occurrence of spinal intramedullary DMG, intradural dissemination, and osseous metastasis has been reported.Observations: The authors report the case of a 6-year-old female presenting with acute-onset urinary retention and paraplegia, who was found to have a pontine DMG, an intradural mass at the level of T1-6, and an extradural lesion at T6-9. The thecal sac was severely compressed by the extradural mass; thus, a T6-9 laminectomy and extradural tumor resection were performed. After the procedure, an amelioration of weakness was observed. The patient was treated with radiotherapy to the spine. Pathology revealed an increase in chromatin, the proliferation of atypical cells, and microvascular proliferation. The H3K27 mutation was confirmed.Lessons: This case demonstrates an operative view in the metastasis of DMG H3K27-altered to the spinal epidural space without visceral or osseous metastasis. The possibility of spinal epidural metastasis and its surgical treatability should be considered if patients with DMG present spinal cord symptoms. https://thejns.org/doi/10.3171/CASE25249.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transient postoperative femoral neuropathy following prone positioning for posterior spine surgery: illustrative case. 后路脊柱手术俯卧位术后短暂性股神经病变：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE25239

David J Caldwell, Cecilia Dalle Ore, Alexa Semonche, Ninad Bhat, David Collins, Frank Panza, Daniel A Lim, Nina I Garga, Doris D Wang

{"title":"Transient postoperative femoral neuropathy following prone positioning for posterior spine surgery: illustrative case.","authors":"David J Caldwell, Cecilia Dalle Ore, Alexa Semonche, Ninad Bhat, David Collins, Frank Panza, Daniel A Lim, Nina I Garga, Doris D Wang","doi":"10.3171/CASE25239","DOIUrl":"10.3171/CASE25239","url":null,"abstract":"Background: Neurological deficits are a concern following spine surgeries. Determining the etiology is critical as this dictates management options. The authors present the case of a transient bilateral femoral neuropathy following prone positioning for a revision spinal fusion with osteotomies that improved with conservative management.Observations: A 69-year-old male with a prior L2-S1 posterior fusion presented with back pain, and imaging showed pseudarthrosis and hardware failure. He underwent a first-stage L2-4 lateral interbody fusion, and 1 week later a revision T10-pelvis posterior spinal instrumented fusion and bilateral posterior column osteotomies at L1-2 and L2-3. Postoperatively, he had 0/5 power in his bilateral quadriceps muscles with patchy sensory loss in the medial thigh and knees without pain. Imaging did not reveal any compressive cause. The most likely etiology was a peripheral neuropathy of the femoral nerve at or below the level of the inguinal ligament, which was managed conservatively with subsequent improvement.Lessons: A careful neurological examination and imaging review can determine a peripheral nerve injury that is expected to resolve with conservative management compared with a postsurgical nerve root injury or hematoma that would benefit from immediate surgical exploration. https://thejns.org/doi/10.3171/CASE25239.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A rare tumor with unique features: polymorphous low-grade neuroepithelial tumor of the young with third ventricular location and TP53 mutation. Illustrative case. 一种罕见的肿瘤，具有独特的特征：多形性低级别神经上皮肿瘤，位于第三心室，TP53突变。说明情况。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-14 DOI: 10.3171/CASE25346

Cagdas Ataoglu, Zeynep Arzum Uyaniker, Ufuk Erginoglu, Miner Ross, Jeffrey Helgager, Mustafa K Baskaya

{"title":"A rare tumor with unique features: polymorphous low-grade neuroepithelial tumor of the young with third ventricular location and TP53 mutation. Illustrative case.","authors":"Cagdas Ataoglu, Zeynep Arzum Uyaniker, Ufuk Erginoglu, Miner Ross, Jeffrey Helgager, Mustafa K Baskaya","doi":"10.3171/CASE25346","DOIUrl":"10.3171/CASE25346","url":null,"abstract":"Background: Polymorphous low-grade neuroepithelial tumors of the young (PLNTYs) are rare, generally indolent brain tumors first described in 2017 and recently included as a recognized entity in the 5th edition of the World Health Organization Classification of Tumors of the Central Nervous System. PLNTYs occur most commonly in children and young adults and are often associated with epilepsy and favorable clinical outcomes.Observations: The authors present a case of PLNTY in the third ventricle, an unusual location for this tumor, with operative, histological, and molecular analysis. Notably, they identified a pathogenic TP53 mutation, which has been rarely reported in this tumor type. The operative video demonstrates anatomical and surgical considerations for this rare and newly recognized tumor type.Lessons: The authors contribute a new case of PLNTY to the literature, highlighting the uncommon features of this case, including third ventricular localization and the presence of a TP53 mutation. They include a surgical case video for comprehensive visualization. These tumors typically exhibit indolent behavior and can be managed with resection alone. Comprehensive radiological, histological, and molecular evaluation is necessary to distinguish these tumors from other low-grade neoplasms. https://thejns.org/doi/10.3171/CASE25346.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12260236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case. 完全性胼胝体切开术治疗进行性肌阵挛性癫痫伴齿状体-苍白球萎缩1例：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-07 DOI: 10.3171/CASE2576

Daiki Mine, Takafumi Shimogawa, Yasunari Sakai, Hiroshi Shigeto, Shusuke Okubo, Ayumi Sakata, Eriko Watanabe, Akira Nakamizo, Koji Yoshimoto

{"title":"Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case.","authors":"Daiki Mine, Takafumi Shimogawa, Yasunari Sakai, Hiroshi Shigeto, Shusuke Okubo, Ayumi Sakata, Eriko Watanabe, Akira Nakamizo, Koji Yoshimoto","doi":"10.3171/CASE2576","DOIUrl":"10.3171/CASE2576","url":null,"abstract":"Background: The authors report the first case of an adult patient with progressive myoclonic epilepsy (PME) due to dentatorubral-pallidoluysian atrophy (DRPLA) who underwent total corpus callosotomy (CC) for drug-resistant epilepsy, resulting in a significant reduction in seizure frequency and improved quality of life (QOL).Observations: A patient developed upper limb myoclonus followed by tonic seizures in the upper and lower limbs at 8 years of age with progressive symptoms of cerebellar ataxia and cognitive decline at 10 years of age. The patient was diagnosed with DRPLA. Despite antiepileptic drug therapy, seizures persisted and worsened, leading to oxygen desaturation during epileptic seizures. Focal to bilateral tonic-clonic seizures (FBTCSs) evolved into status epilepticus, lasting more than 30 minutes every day. Therefore, the authors considered that a surgical intervention may alleviate daily seizures. To warrant the rapid therapeutic effect, a total CC was performed. The frequency and severity of his seizures decreased significantly after surgery, and tonic seizures and FBTCSs with oxygen desaturation disappeared 1 year after surgery.Lessons: Total CC for refractory PME with severe cognitive impairment can not only alleviate seizures rapidly but also improve patients' QOL. Therefore, CC may represent a viable therapeutic option for refractory PME. https://thejns.org/doi/10.3171/CASE2576.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ewing sarcoma extraosseous brain metastasis presenting with an intracranial hemorrhage: illustrative case. 尤因肉瘤骨外脑转移并颅内出血：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-07 DOI: 10.3171/CASE25246

Collin Tanchanco, Kristine Ravina, Alexander In, Cole Sloboda, Joshua A Cuoco, Anthony J Emanuel, Cara M Rogers

{"title":"Ewing sarcoma extraosseous brain metastasis presenting with an intracranial hemorrhage: illustrative case.","authors":"Collin Tanchanco, Kristine Ravina, Alexander In, Cole Sloboda, Joshua A Cuoco, Anthony J Emanuel, Cara M Rogers","doi":"10.3171/CASE25246","DOIUrl":"10.3171/CASE25246","url":null,"abstract":"Background: Ewing sarcoma is a rare malignant tumor that primarily affects children and young adults, commonly metastasizing to the lungs, bone, and bone marrow. CNS involvement is extremely rare, especially with the primary presentation of intracranial hemorrhage. Current protocols do not include routine neuroimaging, potentially delaying the detection of brain metastasis. Additionally, Ewing sarcoma patients are at risk of developing chemotherapy-induced thrombocytopenia that can significantly increase the possibility of intracranial hemorrhage.Observations: A 19-year-old male with metastatic Ewing sarcoma of the pelvis presented with sudden-onset severe headache, seizures, and unresponsiveness. Imaging revealed a large left frontoparietal intraparenchymal hemorrhage with midline shift requiring emergency surgical decompression. Histopathology confirmed metastatic Ewing sarcoma. Despite proper management, the patient's medical condition deteriorated, leading to subsequent death.Lessons: Early and interval brain imaging should be considered in patients diagnosed with Ewing sarcoma, especially those undergoing chemotherapy with thrombocytopenic effects. Earlier detection of CNS involvement may facilitate timely intervention and improve outcomes. Future research should explore optimized surveillance strategies and the connection between metastatic intracranial Ewing sarcoma and the unusual presentation of hemorrhage. https://thejns.org/doi/10.3171/CASE25246.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: illustrative case. 室管膜下巨细胞星形细胞瘤，无结节性硬化症：说明性病例。

Journal of neurosurgery. Case lessons Pub Date : 2025-07-07 DOI: 10.3171/CASE2566

W Luke Ledford, Christopher J Carr, Milca G Alfaro, Charlaine Conger, Suash J Sharma, John W Henson, Khoi D Nguyen

{"title":"Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: illustrative case.","authors":"W Luke Ledford, Christopher J Carr, Milca G Alfaro, Charlaine Conger, Suash J Sharma, John W Henson, Khoi D Nguyen","doi":"10.3171/CASE2566","DOIUrl":"10.3171/CASE2566","url":null,"abstract":"Background: The authors present a rare case of subependymal giant cell astrocytoma (SEGA) in a patient without tuberous sclerosis complex (TSC) and report characteristics of similar cases in the literature via a systematic review.Observations: A healthy 16-year-old male presented with headache and papilledema and was found to have an intraventricular mass. The mass was resected, and pathological analysis revealed SEGA. The patient developed recurrence with hydrocephalus necessitating open resection followed by CSF diversion. Next-generation sequencing was performed on the tumor, which revealed a homozygous TSC2 mutation. Targeted mosaic variant testing was negative in peripheral blood, indicating an acquired, rather than inherited, mutation. This likely represents a single mutation that underwent gene conversion during early astrocyte division. The authors performed a systematic review of the literature and found 59 additional documented cases of SEGA without TSC. Compared with TSC-associated SEGAs, isolated SEGAs tend to occur in older children, have lower rates of gross-total resection and higher rates of recurrence, and are always solitary lesions.Lessons: Patients without TSC may develop SEGA due to somatic mutations. Thus, SEGA should remain on the differential diagnosis for intraventricular masses. Resection and histopathological diagnosis are usually indicated, especially for those complicated by hydrocephalus. Prognosis is favorable for isolated SEGA. https://thejns.org/doi/10.3171/CASE2566.","PeriodicalId":94098,"journal":{"name":"Journal of neurosurgery. Case lessons","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0