Pediatric Neurosurgery最新文献

{"title":"A Case Report of Infant-Type Hemispheric Glioma with a Novel GAB1-ABL2 Kinase Fusion Treated with Dasatinib.","authors":"Emery Buckner-Wolfson, Geena Jung, Timothy Kim, Ryan Fatemi, Genesis Liriano, Nagma Dalvi, Mandana Behbahani, Steven Chin, Allison Martin, Andrew Kobets","doi":"10.1159/000535842","DOIUrl":"10.1159/000535842","url":null,"abstract":"<p><strong>Introduction: </strong>Infant-type hemispheric glioma (IHG) is a rare form of cancer that affects newborns and infants. It is classified as a pediatric-type high-grade glioma and typically harbors receptor tyrosine kinase (RTK) gene fusions. Here, we present the finding of a novel gene fusion IHG treated with a targeted therapy that has yet to be implemented for any other IHG case to date.</p><p><strong>Case presentation: </strong>We report the case of a 12-month-old boy with IHG who presented with obstructive hydrocephalus due to a large mass in the right frontal lobe. The patient initially underwent mass resection, but subsequent imaging showed rapid interval progression of the residual tumor. Comprehensive molecular analysis of the tumor tissue revealed a novel GAB1-ABL2 gene fusion, and the patient was started on dasatinib, an ABL kinase inhibitor. Shortly after initiation of dasatinib treatment, there was a significant reduction in tumor size and enhancement, followed by stabilization of disease.</p><p><strong>Discussion: </strong>The patient's robust response to treatment suggests that dasatinib is an effective targeted therapy for IHG harboring a GAB1-ABL2 gene fusion. This finding may inform future investigations into the disease processes of IHG and help guide the diagnosis and treatment of IHG in the absence of previously identified gene fusions, improving clinical management of this vulnerable patient population.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paediatric Rhabdoid Meningioma: Clinical and Therapeutic Features Findings - Case Series of 3 Patients.","authors":"Ghassen Gader, Abdelhafidh Slimane, Firas Sliti, Mohamed Badri, Ihsèn Zammel","doi":"10.1159/000535715","DOIUrl":"10.1159/000535715","url":null,"abstract":"<p><strong>Introduction: </strong>Paediatric rhabdoid meningioma (RM) is the rarest but most aggressive subtype of meningioma, related to a severe prognosis. They account for 1-3% of all intracranial meningiomas.</p><p><strong>Case presentations: </strong>We report an institutional experience of 3 cases through which we discuss clinical, histological, and therapeutic features of this tumour. Two of our patients were female-gendered (3 years old and 1 year and 6 months old), and one was male-gendered (16 years old). Revealing symptoms were related to intracranial hypertension, cerebellar syndrome, cranial nerve palsy, and skull tumefaction. Imaging showed extra-axial tumour located in the right ponto-cerebellar angle in the first case, in the left occipital region in the second case, left parietal tumour in the third case. All patients underwent a surgical intervention with a gross total resection. Histological evaluation supported by immunohistochemistry confirmed the diagnosis of RM. Tumour recurrence was observed at 45 days in the first case with a fatal outcome. Despite adjuvant radiotherapy, both second and third cases had local recurrence after a mean follow-up of 1 month following the radiotherapy.</p><p><strong>Conclusions: </strong>RM is very aggressive tumours. Standardized therapeutic guidelines are still under debate as actual approaches are still inefficient to prevent quick recurrence and fatal outcome.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"J. Pattisapu","doi":"10.1159/000531664","DOIUrl":"https://doi.org/10.1159/000531664","url":null,"abstract":"","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46289804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International/Resident Traveling Notice 2023","authors":"","doi":"10.1159/000529789","DOIUrl":"https://doi.org/10.1159/000529789","url":null,"abstract":"","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48088776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acknowledgement to Reviewers","authors":"","doi":"10.1159/000529225","DOIUrl":"https://doi.org/10.1159/000529225","url":null,"abstract":"<br />Pediatr Neurosurg 2022;57:447–448","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138515402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor regarding the Article \"Comparison of Follow-Up Length-Matched Single-Center Myelomeningocele Postnatal Closure Cohort to the Management of Myelomeningocele Study (MOMS) Trial Results\".","authors":"Stephanie Greene,&nbsp;Jasmine L Hect,&nbsp;Kristin Weaver,&nbsp;Michael M McDowell","doi":"10.1159/000529013","DOIUrl":"https://doi.org/10.1159/000529013","url":null,"abstract":"NA.","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9566976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison between MRI and the Combination of 2D and 3D US in the Prenatal Diagnosis of Closed Spina Bifida.","authors":"Weiping Zhang, Jingling Wang, Hui Wu, Li Chen","doi":"10.1159/000533205","DOIUrl":"10.1159/000533205","url":null,"abstract":"<p><strong>Introduction: </strong>Closed spina bifida (CSB) is a rare condition with a challenging prenatal diagnosis. Herein, we assess the conventional two-dimensional (2D) ultrasound (US) combined with three-dimensional (3D) ultrasound (US) and magnetic resonance imaging (MRI) in the prenatal diagnosis of CSB.</p><p><strong>Methods: </strong>In this retrospective study, we included 20 cases of fetal CSB confirmed by postnatal MRI, post-mortem pathological examination, or postpartum surgery. Prenatal 2D US complemented with the 3D US was performed in all fetuses to evaluate the characteristics of the conus, vertebral arch, and scoliosis. Moreover, MRI was performed to establish the split vertebrae, with or without a bulging mass. Thereafter, we compared the performance of the US and MRI.</p><p><strong>Results: </strong>Diagnosis accuracy of US was comparable with MRI (70% vs. 75%, κ = 0.62); US detected more cases with interpediculate distance ≥95% (55% vs. 35%, κ = 0.22) than MRI. On the other hand, MRI had a superior capacity for identifying vertebral arch fissures (20% vs. 35%, κ = 0.39). MRI and ultrasound had good agreement in the conus medullaris (65% vs. 70%, κ = 0.42) and scoliosis (45% vs. 35%, κ = 0.59). Both US and MRI detected 1 (5.0%) case with \"lemon sign\" and \"banana sign.\" The missed diagnosis rates of US and MRI were 15% (3/20) and 5% (1/20), respectively. The misdiagnosis rates of US and MRI were 15.0% (3/20) and 20.0% (4/20), respectively.</p><p><strong>Conclusion: </strong>Both MRI and 2D US combined with the 3D US had excellent performance in prenatal diagnosis of CSB.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10224134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of a Prophylactic Retrograde-Flushing Device in High-Risk Pediatric Patients with Ventriculoperitoneal Shunts: A Technical Note.","authors":"Michael Vinzani,&nbsp;Mohammed Alshareef,&nbsp;Ramin Eskandari","doi":"10.1159/000530869","DOIUrl":"https://doi.org/10.1159/000530869","url":null,"abstract":"<p><strong>Introduction: </strong>Ventriculoperitoneal shunt (VPS) malfunction rates are as high as 40% in the first year with posthemorrhagic hydrocephalus (PHH) patients having the highest proximal occlusion risk. Debris, protein, and cellular ingrowth most commonly obstruct the proximal ventricular catheter and/or valve. Historically, no preventative methods have demonstrated efficacy. We present a technical note and case series describing the use of a retrograde proximal flushing device and prophylactic flushing protocol to maintain ventricular catheter patency and reduce proximal shunt occlusions.</p><p><strong>Methods: </strong>We present our 2.8-4-year follow-up data on the first 9 pediatric cases of ReFlow (Anuncia Inc, Scottsdale, AZ) device implantation combined with routine prophylactic flushing. Rationale for device implantation, patient selection, surgical procedure details, postoperative follow-up, and prophylactic flushing protocol are discussed as well as pre- and postimplantation ventricular catheter obstruction rates. We include a technical note on the device setup and prophylactic flushing protocol.</p><p><strong>Results: </strong>Patient average age was 5.6 years and all patients had PHH. Minimal follow-up was 2.8 years (range 2.8-4 years). Prophylactic flushing was initiated between 2 and 14 days after ReFlow implantation and has continued as of the last follow-up. In 7 patients, ReFlow implantation occurred during the revision of an existing shunt and in two, implantation was coincident with initial VPS placement. In the 2 years preceding ReFlow and prophylactic flushing, 14 proximal shunt failures occurred in the 7 patients with existing VPS. This was reduced to only one proximal shunt failure in all 9 patients during the full follow-up period after ReFlow and prophylactic flushing.</p><p><strong>Conclusion: </strong>Pediatric VPS placement carries high rates of proximal catheter occlusion, often leading to emergency surgery, morbidity, or even death. The ReFlow device along with routine prophylactic flushing may reduce proximal obstruction and need for revision surgery. Higher patient numbers and longer follow-up periods are necessary to further elucidate the safety and effect of such a device on longer term shunt failures and revision surgery.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of Pediatric Extraosseous Chordomas with a Unique, Illustrative Case.","authors":"Benjamin J Lee,&nbsp;Audrey Grossen,&nbsp;Helen Shi,&nbsp;Sara Abu Mehsen,&nbsp;Zhongxin Yu,&nbsp;Kar-Ming A Fung,&nbsp;Khairuddin Memon,&nbsp;Joanna E Gernsback","doi":"10.1159/000528761","DOIUrl":"https://doi.org/10.1159/000528761","url":null,"abstract":"<p><strong>Introduction: </strong>Chordoma is a rare, aggressive tumor that is believed to originate from notochord remnants. It can occur anywhere from the clivus to the sacrum and often recurs even after resection and radiotherapy. We present a unique case that initially suggested a different pathology based on imaging and presentation but was found to be a chordoma on gross and pathological analysis.</p><p><strong>Case presentation: </strong>An 11-year-old girl presented outpatient for scoliosis evaluation and was found to have what appeared to be a right L4 peripheral nerve sheath tumor on MRI, causing dextroconvex scoliosis. She underwent a gross total resection via a retroperitoneal approach and was found to have what appeared to be an extraosseous, extradural, extra-spinal canal lumbar chordoma. Immunohistochemical features on surgical pathology were consistent with chordoma. The patient was referred to radiation oncology for adjuvant radiotherapy and pediatric hematology/oncology for recurrence monitoring.</p><p><strong>Discussion: </strong>Our case is the first to present in such a manner, was shown to be external to the spinal canal, encasing the nerve root, and was the first such case in a pediatric patient. We reviewed the growing body of literature on spinal extraosseous chordomas and their characteristics within the pediatric patient population. We also reviewed chordoma pathogenesis theories as well as current and future treatment options.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9527697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Images in Pediatric Neurosurgery: Occult Intraosseous Dermoid Cyst at the Nasofrontal Junction.","authors":"Yusuke S Hori,&nbsp;John S Albanese,&nbsp;John G Meara,&nbsp;Mark R Proctor","doi":"10.1159/000528440","DOIUrl":"https://doi.org/10.1159/000528440","url":null,"abstract":"INTRODUCTION\u0000An extension of the dermoid cyst below the nasal bone has been identified in 10% of patients in a large series of nasal dermoid cysts, but these are generally easily identifiable and connected to the tract. To date, no previous reports have documented a case with intraosseous dermoid cyst which was completely hidden in the nasal bone.\u0000\u0000\u0000CASE PRESENTATION\u0000An 8 year-old previously healthy female was initially found to have a small pit on her nasal dorsum. The lesion developed local infection and she was initially treated with antibiotics two years prior to the current presentation. The lesion was diagnosed as a dermal sinus tract, and surgical removal was conducted at an outside hospital. In retrospect the pre-operative work-up imaging showed an occult intraosseous nasal bone extension, however, this was not appreciated at the initial surgery. She experienced repeat infections and underwent a second surgery with exploration under the nasal bones, however, the patient experienced recurrent postoperative local infections. The family presented to our institution for a second opinion. Our images interestingly illustrate the nasal dermoid cyst extending into the nasal bone at the nasofrontal junction without detectable extraosseous sub-nasal bone extension on the imaging. The patient proceeded with a third surgery for complete removal of the lesion via an extended vertical nasal incision. The nasal bones were removed in their entirety, the occult dermoid cyst with a small tract was located in the nasal bones and the undersurface of the bones were completely debrided. No intracranial extension was observed after careful investigation of the skull base. Particulate corticocancellous bone was used with fibrin sealant to reconstruct the defect. The nasal bones were then replaced. The pathology results were consistent with a dermoid cyst. The post-operative course was uncomplicated and she has not had a recurrence after the third surgery.\u0000\u0000\u0000DISCUSSION/CONCLUSION\u0000This case, despite an exploration under the nasal bones, initially received incomplete resection and experienced multiple infections because of failure to appreciate the portion hidden in the nasal bones. Our case was successfully treated with ostectomy of nasal bones without recurrence and complications. This procedure allows unobstructed visualization of the entire cyst leading to the complete removal of the lesion. This is an instructive case to show that portions of the cyst may remain hidden and lead to recurrent infection, and complete resection with sufficient exposure of the entire lesion is needed to successfully treat this condition.","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9575277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}