Kadir Oktay, Araz Aliyev, Halil Emre Alcan, Seyda Erdogan, Kerem Mazhar Ozsoy, Nuri Eralp Cetinalp, Tahsin Erman
{"title":"Extraskeletal Myxoid Chondrosarcoma of the Jugular Foramen in a Pediatric Patient: A Case Report and Comprehensive Review of the Literature.","authors":"Kadir Oktay, Araz Aliyev, Halil Emre Alcan, Seyda Erdogan, Kerem Mazhar Ozsoy, Nuri Eralp Cetinalp, Tahsin Erman","doi":"10.1159/000530990","DOIUrl":"https://doi.org/10.1159/000530990","url":null,"abstract":"<p><strong>Introduction: </strong>Extraskeletal myxoid chondrosarcoma of the jugular foramen is a rare clinical entity, especially in the pediatric population. Thus, it can be confused with other pathologies.</p><p><strong>Case presentation: </strong>We report an extremely rare case of a 14-year-old female patient with jugular foramen myxoid chondrosarcoma that was completely removed through microsurgical resection.</p><p><strong>Conclusion: </strong>The primary purpose of the treatment is gross total resection of the chondrosarcomas. However, adjuvant methods such as radiotherapy should additionally be applied in patients who have high-grade diseases or cannot undergo gross total resection because of anatomic localization.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":"58 3","pages":"173-178"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113664","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}
Simon Schmid, Andrea Bevot, Felix Neunhoeffer, Jörg Michel, Matthias U Kumpf, Matthias Reimold, Michael Hofbeck, Martin U Schuhmann
{"title":"Chronic Pleural Effusion in Ventriculoperitoneal Shunt due to Diaphragmatic CSF Fistula: Report of a Case Treated by Endoscopic Choroid Plexus Coagulation and Literature Review.","authors":"Simon Schmid, Andrea Bevot, Felix Neunhoeffer, Jörg Michel, Matthias U Kumpf, Matthias Reimold, Michael Hofbeck, Martin U Schuhmann","doi":"10.1159/000530387","DOIUrl":"https://doi.org/10.1159/000530387","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic pleural cerebrospinal fluid (CSF) effusion is a rare complication after ventriculoperitoneal (VP) shunt insertion and only 18 cases in children and adults have been described so far without catheter dislocation to the intrathoracic cavity.</p><p><strong>Case presentation: </strong>We report on a 4-year-old girl with a complex history of underlying neurogenetic disorder, a hypoxic-ischemic encephalopathy after influenza A infection with septic shock and severe acute respiratory distress syndrome, followed by meningitis at the age of 10 months. In consequence, she developed a severe cerebral atrophy and post-meningitic hydrocephalus requiring placement of a VP shunt. At age 4, she was admitted with community-acquired mycoplasma pneumonia and developed increasing pleural effusions leading to severe respiratory distress and requiring continuous chest tube drainage (up to 1,000-1,400 mL/day) that could not be weaned. β trace protein, in CSF present at concentrations >6 mg/L, was found in the pleural fluid at low concentrations of 2.7 mg/L. An abdomino-thoracic CSF fistula was finally proven by single photon emission computerized tomography combined with low-dose computer tomography. After shunt externalization, the pleural effusion stopped and the chest tube was removed. CSF production rate remains high above 500 mL/24 h. An atrial CSF shunt could not be placed, since a hemodynamically relevant atrial septum defect with frail circulatory balance would not have tolerated the large CSF volumes. Therefore, she underwent a total bilateral endoscopic choroid plexus laser coagulation (CPC) within the lateral ventricles via bi-occipital burr holes. Postoperatively CSF production rate went close to 0 mL and after external ventricular drain removal no signs and symptoms of hydrocephalus developed during a follow-up of now 2.5 years.</p><p><strong>Conclusion: </strong>In summary, pleural effusions in patients with VP shunt can rarely be caused by an abdomino-thoracic fistula, with non-elevated β-trace protein in the pleural fluid. The majority of reported cases in literature were treated by ventriculoatrial shunt. This is the 2nd reported case, which has been successfully treated by radical CPC alone including the temporal horn choroid plexus, making the child shunt independent.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":"58 3","pages":"160-167"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10116360","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}
Peyton Presto, Reagan A Collins, John Garza, Omar Fadi Zeitouni, Laszlo Nagy
{"title":"Sex Differences in Comorbidities of Pediatric Craniosynostosis at Presentation.","authors":"Peyton Presto, Reagan A Collins, John Garza, Omar Fadi Zeitouni, Laszlo Nagy","doi":"10.1159/000528745","DOIUrl":"https://doi.org/10.1159/000528745","url":null,"abstract":"<p><strong>Introduction: </strong>Craniosynostosis is a common pediatric presentation in which the premature fusion of one or more cranial sutures results in a misshapen skull. This birth defect is often associated with comorbidities due to structural impacts on nearby anatomical features. While there is some evidence for a male predominance among craniosynostosis patients, little has been investigated regarding sex differences in comorbidities of this condition. This study seeks to explore potential sexual dimorphisms in craniosynostosis patients at the time of presentation.</p><p><strong>Methods: </strong>We conducted a retrospective, cross-sectional review of male and female non-syndromic craniosynostosis (NSC) patients between the ages of 1 month and 9 years that were evaluated at a 500-bed academic hospital or a 977-bed private hospital in Lubbock, TX, USA. Common comorbidities including ophthalmologic diagnoses, developmental delays, obstructive sleep apnea, chronic otitis media, hearing loss, chronic headaches, and seizure disorders were evaluated. The NSC cohort was compared to a similarly aged trauma group that represented the normal population.</p><p><strong>Results: </strong>175 NSC patients fit the inclusion criteria, of which 109 (62%) were male. A diagnosis of craniosynostosis was significantly associated with ophthalmological diagnoses (p < 0.0001), chronic otitis media (p < 0.0001), developmental delays (p < 0.0001), and hearing loss (p = 0.0047). Male NSC patients were less likely to present with ophthalmological diagnoses (p = 0.0010) or hearing loss (p = 0.0052) than females.</p><p><strong>Conclusions: </strong>Our findings expand on current literature evaluating possible comorbidities of NSC, particularly supporting the association with ophthalmological diagnoses, chronic otitis media, developmental delays, and hearing loss. We also report sex differences in ophthalmological diagnoses and hearing loss for NSC patients. These findings can serve to educate physicians of symptoms requiring prompt recognition and management in these patients.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":"58 1","pages":"8-17"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9883169","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}
Mervyn Jr Lim, Enrica Ek Tan, Ru Xin Wong, Kenneth Te Chang, Marielle V Fortier, Tien Meng Cheong, Lee Ping Ng, Sharon Yy Low
{"title":"Pediatric Primary Intracranial Malignant Melanoma: Case Report and Literature Review.","authors":"Mervyn Jr Lim, Enrica Ek Tan, Ru Xin Wong, Kenneth Te Chang, Marielle V Fortier, Tien Meng Cheong, Lee Ping Ng, Sharon Yy Low","doi":"10.1159/000531544","DOIUrl":"10.1159/000531544","url":null,"abstract":"<p><strong>Introduction: </strong>Primary intracranial malignant melanoma (PIMM) is an extremely rare primary brain tumor with most cases diagnosed in adults. To date, there are only a few cases reported in the pediatric population. Owing to its infrequency, there are no established guidelines to treat this aggressive neoplasm. Recent insights suggest that PIMM are molecularly different between adults and children, whereby NRAS mutations drive tumor growth in the latter group. We present a unique case of PIMM in a pediatric patient and discuss the case in corroboration with current literature.</p><p><strong>Case presentation: </strong>A previously well 15-year-old male presented with progressive symptoms of raised intracranial pressure. Neuroimaging reported a large solid-cystic lesion with significant mass effect. He underwent gross total resection of the lesion that was reported to be a PIMM with pathogenic single nucleotide variant NRAS p.Gln61Lys. Further workup for cutaneous, uveal, and visceral malignant melanoma was negative. A trial of whole-brain radiotherapy followed by dual immune checkpoint inhibitors was commenced. Despite concerted efforts, the patient had aggressive tumor progression and eventually demised from his disease.</p><p><strong>Conclusion: </strong>We therein report a case of pediatric PIMM, in the context of the patient's clinical, radiological, histopathological, and molecular findings. This case highlights the therapeutic difficulties faced in disease management and contributes to the very limited pool of medical literature for this devastating primary brain tumor.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":" ","pages":"223-230"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10005377","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":"Recent Advancements in Ependymoma: Challenges and Therapeutic Opportunities.","authors":"Kelsey C Bertrand, Paul Klimo","doi":"10.1159/000530868","DOIUrl":"10.1159/000530868","url":null,"abstract":"<p><strong>Background: </strong>Ependymoma is one of the most common malignant pediatric brain tumors and can be difficult to treat. Over the last decade, much progress has been made in the understanding of the underlying molecular drivers within this group of tumors, but clinical outcomes remain unchanged.</p><p><strong>Summary: </strong>Here, we review the most recent molecular advances in pediatric ependymoma, evaluate results of recent clinical trials and discuss the ongoing challenges in the field and questions that remain.</p><p><strong>Key messages: </strong>The field of ependymoma has vastly changed over the last several decades with ten distinct molecular subgroups now described, but much progress needs to be made in developing new therapeutic strategies and targets.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":" ","pages":"307-312"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9527231","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}
Abeelan Rasadurai, Nicole Alexandra Frank, Ladina Aurea Greuter, Maria Licci, Peter Weber, Stephanie Jünemann, Raphael Guzman, Jehuda Soleman
{"title":"Patient- and Caregiver-Reported Outcome Measures after Single-Level Selective Dorsal Rhizotomy in Pediatric and Young Adult Patients with Spastic Cerebral Palsy.","authors":"Abeelan Rasadurai, Nicole Alexandra Frank, Ladina Aurea Greuter, Maria Licci, Peter Weber, Stephanie Jünemann, Raphael Guzman, Jehuda Soleman","doi":"10.1159/000530748","DOIUrl":"10.1159/000530748","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this cohort study was to assess the outcome of single-level selective dorsal rhizotomy (SDR) in children and young adults with spastic cerebral palsy (CP) treated at our institution, focusing on patient-reported outcome measures (PROMs) and quality of life (QoL) of patients and their caregivers.</p><p><strong>Methods: </strong>We included consecutive patients undergoing SDR from 2018 to 2020 at our institution. Subjective outcome was measured through PROMs, while functional outcome was measured through baseline characteristics, operative outcome, as well as short- and long-term follow-up. Furthermore, the effect of age at the time of surgery on patient/caregiver satisfaction was analyzed.</p><p><strong>Results: </strong>Seven patients (3 female, 43%) with a median age at surgery of 11.9 years (IQR 8.7-15.5) were included. All patients had a Gross Motor Function Classification (GMFCS) score of at least IV before surgery. Five surgeries were palliative and two non-palliative. Based on PROMs, SDR showed very good QoL and health-related outcome measures for both palliative and non-palliative patients. Patient/caregiver satisfaction was higher for the early subgroup (age ≤11) than the late subgroup (age >11). Functional outcome showed reduced spasticity in both groups. Blood transfusions were never needed, while no cerebrospinal fluid leak, infection, or permanent morbidity was seen.</p><p><strong>Conclusion: </strong>Based on PROMs, SDR leads to high satisfaction and improved QoL, especially if done at an early age. Further studies with larger cohorts are necessary to underline and confirm our observations.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":"58 3","pages":"128-135"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10116370","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":"A Molecular Update and Review of Current Trials in Paediatric Low-Grade Gliomas.","authors":"Sarah Al-Jilaihawi, Stephen Lowis","doi":"10.1159/000533703","DOIUrl":"10.1159/000533703","url":null,"abstract":"<p><strong>Background: </strong>Paediatric low-grade gliomas (pLGGs) are the most common primary brain tumour in children. Though considered benign, slow-growing lesions with excellent overall survival, their long-term morbidity can be significant, both from the tumour and secondary to treatment. Vast progress has been made in recent years to better understand the molecular biology underlying pLGGs, with promising implications for new targeted therapeutic strategies.</p><p><strong>Summary: </strong>A multi-layered classification system of biologic subgroups, integrating distinct molecular and histological features has evolved to further our clinical understanding of these heterogeneous tumours. Though surgery and chemotherapy are the mainstays of treatment for pLGGs, many tumours are not amenable to surgery and/or progress after conventional chemotherapy. Therapies targeting common genetic aberrations in the RAS-mitogen-activated protein kinase (RAS/MAPK) pathway have been the focus of many recent studies and offer new therapeutic possibilities. Here, we summarise the updated molecular classification of pLGGs and provide a review of current treatment strategies, novel agents, and open trials.</p><p><strong>Key messages: </strong>(1) There is a need for treatment strategies in pLGG that provide lasting tumour control and better quality of survival through minimising toxicity and protecting against neurological, cognitive, and endocrine deficits. (2) The latest World Health Organisation classification of pLGG incorporates a growing wealth of molecular genetic information by grouping tumours into more biologically and molecularly defined entities that may enable better risk stratification of patients, and consideration for targeted therapies in the future. (3) Novel agents and molecular-targeted therapies offer new therapeutic possibilities in pLGG and have been the subject of many recent and currently open clinical studies. (4) Adequate molecular characterisation of pLGG is therefore imperative in today's clinical trials, and treatment responses should not only be evaluated radiologically but also using neurological, visual, and quality of life outcomes to truly understand treatment benefits.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":" ","pages":"290-298"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10038764","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}
Julia Austein, Friederike Austein, Katja A Lüders, Lena Braunschweig, Konstantinos Tsaknakis, Heiko M Lorenz, Anna K Hell
{"title":"Influence of Paraspinal Growth-Friendly Spinal Implants in Children with Spinal Muscular Atrophy on Parasol Deformity, Rib-Vertebral Angles, Thoracic, and Lung Volumes.","authors":"Julia Austein, Friederike Austein, Katja A Lüders, Lena Braunschweig, Konstantinos Tsaknakis, Heiko M Lorenz, Anna K Hell","doi":"10.1159/000531549","DOIUrl":"10.1159/000531549","url":null,"abstract":"<p><strong>Introduction: </strong>Children with spinal muscular atrophy (SMA) and progressive neuromuscular scoliosis often require early growth-friendly spinal implant (GFSI) treatment for deformity correction with implant fixation either through pedicle screws or bilateral to the spine using ribto pelvis fixation. It has been proposed that the latter fixation may change the collapsing parasol deformity via changes in the rib-vertebral angle (RVA) with a positive effect on thoracic and lung volume. The purpose of this study was to analyze the effect of paraspinal GFSI with bilateral rib-to-pelvis fixation on the parasol deformity, RVA, thoracic, and lung volumes.</p><p><strong>Methods: </strong>SMA children with (n = 19) and without (n = 18) GFSI treatment were included. Last follow-up was before definite spinal fusion at puberty. Scoliosis and kyphosis angles, parasol deformity, and index, as well as convex and concave RVA, were measured on radiographs, whereas computed tomography images were used to reconstruct thoracic and lung volumes.</p><p><strong>Results: </strong>In all SMA children (n = 37; with or without GFSI), convex RVA was smaller than concave values at all times. GFSI did not crucially influence the RVA over the 4.6-year follow-up period. Comparing age- and disease-matched adolescents with and without prior GFSI, no effect of GFSI treatment could be detected on either RVA, thoracic, or lung volumes. Parasol deformity progressed over time despite GFSI.</p><p><strong>Conclusion: </strong>Despite different expectations, implantation of GFSI with bilateral rib-to-pelvis fixation did not positively influence parasol deformity, RVA and/or thoracic, and lung volumes in SMA children with spinal deformity directly and over time.</p>","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":" ","pages":"185-196"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9632288","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}
Matias L Costa, Danil A. Kozyrev, Harishchandra Lalgudi Srinivasan, M. Hausman-Kedem, Tali Jonas Kimchi, J. Roth
{"title":"Use of Intraoperative Neuronavigation to Identify Transdural Collaterals in Moyamoya Vasculopathy: A Simple Way to Make It Safer","authors":"Matias L Costa, Danil A. Kozyrev, Harishchandra Lalgudi Srinivasan, M. Hausman-Kedem, Tali Jonas Kimchi, J. Roth","doi":"10.1159/000525454","DOIUrl":"https://doi.org/10.1159/000525454","url":null,"abstract":"Introduction: Transdural collaterals (TC) from the external carotid artery must be preserved when operating on patients with moyamoya vasculopathy. Several techniques have been used to identify the superficial temporal artery (STA) and middle meningeal artery (MMA) during surgery and prevent their damage. However, the use of neuronavigation for this specific purpose has never been described in the literature. We describe an operative case in which neuronavigation was used to preserve the TC (originating from the MMA), detailing our technique step by step and reviewing alternative methods previously reported. Case Presentation: A 6-year-old girl with moyamoya disease, who had developed marked bilateral TC from the MMA sparing the middle cerebral artery territory, underwent staged bilateral indirect revascularization surgery. Intraoperative neuronavigation was used to identify the STA and MMA with their main branches during skin incision, craniotomy, and dural opening. The neuronavigation matched the intraoperative findings exactly, and the target structures remained undamaged. The patient was discharged home after both surgeries with no neurological deficits. One year following surgery, the patient has excellent collateralization from both STAs and is asymptomatic and neurologically intact. Conclusion: With the use of intraoperative neuronavigation, the STA, MMA, and their main branches, as well as their relationship to the bone, can be identified and preserved. This approach can help in preventing undesirable injury to TC during surgery and may potentially prevent perioperative stroke in patients with moyamoya vasculopathy undergoing revascularization surgery.","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":"57 1","pages":"287 - 294"},"PeriodicalIF":0.7,"publicationDate":"2022-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48991999","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}
Taisuke Akimoto, J. Suenaga, Tomoko Hayashi, Daisuke Hirokawa, S. Ito, Hironobu Sato, Tetsuya Yamamoto
{"title":"Moyamoya Syndrome in a Patient with Williams Syndrome: A Case Report","authors":"Taisuke Akimoto, J. Suenaga, Tomoko Hayashi, Daisuke Hirokawa, S. Ito, Hironobu Sato, Tetsuya Yamamoto","doi":"10.1159/000525229","DOIUrl":"https://doi.org/10.1159/000525229","url":null,"abstract":"Introduction: Moyamoya syndrome associated with Williams syndrome is very rare but has been reported to have severe outcomes. Here, we reported a case of Williams syndrome with moyamoya syndrome that was confirmed by the presence of an RNF213 mutation. Case Presentation: A 6-year-old boy with Williams syndrome presented with right hemiparesis induced by hyperventilation. Magnetic resonance angiography and cerebral angiography showed severe stenosis of the bilateral internal carotid arteries and development of moyamoya vessels. Genetic analysis identified a heterozygous c.14576G>A (p.R4859K) mutation in RNF213. Moyamoya syndrome was diagnosed, and bilateral indirect revascularization surgery was conducted without complications and with a good postoperative course. In moyamoya syndrome associated with Williams syndrome, adequate perioperative management of both the moyamoya arteries and the cardiovascular abnormalities is important to prevent complications. Conclusion: This was the first report on a case in which moyamoya syndrome associated with Williams syndrome was confirmed by the presence of a heterozygous RNF213 mutation. Similar to the workup of moyamoya disease, confirmation of RNF213 mutation in Williams syndrome may be useful in predicting the development of moyamoya syndrome that can lead to severe complications.","PeriodicalId":54631,"journal":{"name":"Pediatric Neurosurgery","volume":"57 1","pages":"365 - 370"},"PeriodicalIF":0.7,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43263042","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}