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Spina bifida is a serious birth defect affecting the central nervous system, characterized by incomplete closure of the neural tube. Ethiopia has a very high prevalence of spina bifida, affecting about 40 cases per 10,000 births. Babies born with spina bifida require early closure surgery, done within the first 2–3 days after birth. Some babies need repeat surgeries to address complications, including hydrocephalus. Without medical care, babies have a high risk of death within the first 5 years of their life. Neurosurgical capacity for spina bifida closure surgery at birth is a relatively new development in Ethiopia. ReachAnother Foundation, a not-for-profit organization based in OR, USA, started work in Ethiopia in 2009 and has been instrumental in training neurosurgeons and improving treatment for spina bifida and hydrocephalus. Along with the development of neurosurgical care, the Foundation has invested in training multi-disciplinary teams to conduct patient aftercare and has launched a platform for improved patient outcomes research. As of year 2022, they support six spina bifida "Centers of Excellence" nationwide and are continuously advocating for primary prevention of spina bifida through mandatory fortification of staple foods in Ethiopia. This paper describes ReachAnother's efforts in Ethiopia in a short interval of time, benefiting numerous patients and families with spina bifida and anencephaly. We document this as a case study for other countries to model where resources are limited and the prevalence of spina bifida and hydrocephalus is high, especially in Asia and Africa. [ABSTRACT FROM AUTHOR]

Quantitative mass spectrometry (MS)–based approaches have allowed further characterization of medulloblastoma (MB) classification and clinical/biological behavior. By investigating protein expression, as well as the role of post-translational modifications in shaping cellular activity, novel avenues of research will clarify the current subgrouping, providing elements for tumor treatment—new molecular targets and signaling cascades—and introducing serum, urinary, and CSF markers of tumor growth and recurrence. We systematically searched and reviewed original research articles treating MB proteomics on PubMed. Reviews, opinion papers, and abstracts were excluded from the final work. A total of 30 novel articles treating the proteomic characterization of MB were included in our review. Research conducted on tissue samples, cell lines, CSF, and urine, as well as exosome and medullospheres, was considered, to picture a broad view of the different directions MS-based proteomic analysis is moving toward. In this review, we collect, summarize, and interpret the current literature on this topic. Significant progress has been achieved in the last decade in MB characterization, paving the way for further exploration of large biobanks of MB and other tissues that will allow a more systematic understanding of MB functioning and clinical progression. [ABSTRACT FROM AUTHOR]

Introduction: Spasticity is the result of an exaggeration of the monosynaptic muscle stretch reflex due to lesions affecting the central nervous system, in particular an upper motor neuron lesion. Selective dorsal rhizotomy (SDR) is a surgical technique developed to treat spastic diplegia, one of the common forms of cerebral palsy, resulting from the lack of supraspinal inhibitory controls. The aim of SDR is to identify and cut a critical amount of the sensory rootlets, in particular those contributing the most to spasticity, in order to relieve the patient from lower limb spasticity while preserving motor strength and sphincter control. Various surgical techniques to perform SDR have been proposed over time. Similarly, intraoperative neurophysiology (ION)—first introduced by Fasano and colleagues in 1976—is a safe and effective tool to guide the surgeon in the procedure of SDR, but different ION strategies are used by different authors, and the value of ION itself has been questioned. Methods: The purpose of this paper is to review the anatomo-physiological background of SDR, the historical development of the surgical technique, and the essential principles of ION. Results: While some surgeons privilege a single-level approach and others a multi-level approach, nowadays, there are still neither agreement nor guidelines on the percentage of roots to be cut. Rather, a tailored approach based on both the preoperative functional status as well as intraoperative ION findings seems reasonable. ION is considered not essential to decide the percentage of roots to cut, but it assists to distinguish between ventral and dorsal roots, and to preserve sphincterial function, whenever S2 rootlets are included in SDR. Conclusions: To optimize the balance between reduction of spasticity and preservation of motor strength while minimizing the neurological damage remains the main goal of SDR. [ABSTRACT FROM AUTHOR]

Objective: Rosai-Dorfman disease (RDD) is a rare idiopathic, non-neoplastic histioproliferative disease. Central nervous system (CNS) manifestations are extremely rare. In this paper, we describe a 6-year-old boy with intracranial RDD mimicking multiple meningiomas both clinically and radiologically. We reviewed the literature to understand the clinical behaviour, clinicopathological features and treatment options. Methods: A PubMed (US National Library of Medicine) search using the keywords 'Rosai-Dorfman disease' and 'central nervous system' was performed and citations were reviewed. Results: Eighty-five cases of RDD involving the CNS have been reported until date, and only 7 cases involved children. Of the 85 cases, 16 cases mimicked multiple meningiomas. Our case is the first to involve multiple lesions in a child under 14 years old. Conclusion: After reviewing the literature, we concluded that RDD should be considered as a differential diagnosis for lesions mimicking multiple meningiomas, especially in children. Resection of the intracranial lesion is the most effective treatment, and a definitive diagnosis should be based on histopathologic and immunocytochemical examinations. [ABSTRACT FROM AUTHOR]

Introduction: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome. These CNS anomalies can be broadly classified into two groups; (1) those that are primary malformations and (2) those that occur secondary to osseous deformity/malformation. Conclusion: Familiarity with CNS anomalies associated with Apert syndrome is important to both clinicians and radiologist as it impacts on management and prognostication. Cognitive development of patients has been linked to associated CNS anomalies, timing of surgery and social aspects. These associated anomalies can be broadly classified into (1) those that are primary malformations and (2) those that occur secondary to osseous deformity/malformation, as illustrated in our review paper. [ABSTRACT FROM AUTHOR]

Introduction: The causes of tethered spinal cord are various. In order to release the tethering effect of these malformations, the surgical interventions must include removal of all tethering components, reconstruction of the neural tube and sectioning of tight filum terminale as well. Cases: The cases reported in this paper have had an operation many years before for various developmental defects. After a certain period of time (5-10 years) of the first operation, the patients reapplied to the hospital with various symptoms of spinal cord tethering, either vertical or horizontal. Discussion: At surgical intervention, it was noted that inappropriate surgical procedures caused retethering of the spinal cord in all patients. Postoperative period of all patients were uneventful. All patients declared relief in their symptoms. We would like to draw attention that untreated (or inappropriately treated) midline developmental defects will invariably cause syndrome of tethered cord. Consequently, prophylactic surgical untethering must be applied to all patients with developmental midline defects as soon as possible. Conclusion: It looks that tethered cord symptoms invariably appear as enough negative influence accumulates as the time passes. Elapsed time may vary but unpleasant end result invariably arrives. While these cases with tethered spinal cord develop progressive neurological symptoms, prophylactic and appropriate surgical intervention should be considered as early as possible. There is no acceptable rationale to wait for the appearance of tethered cord syndrome symptoms to perform surgical untethering of the spinal cord because of the probability of irreversibility of the symptoms (incontinence of urine in particular) of tethered spinal cord syndrome. [ABSTRACT FROM AUTHOR]

Abstract Objective  Cavernous malformations (CMs) are vascular malformations affecting any part of the central nervous system. CMs in the pediatric age group are known to be different from those of adults both in origin and clinical characteristics. In this paper, we report our experience in managing CMs in pediatric patients. Materials and methods  Between January 1994 and December 2006, 33 patients younger than 20 years of age with intracranial CMs were treated with microsurgery or radiosurgery. We retrospectively reviewed the presentation and treatment of these 33 patients (18 boys and 15 girls; average age 11.6 years). Results  The most common symptom at presentation was seizure (19 children, 57.6%). The most common type of CM, classified on the basis of magnetic resonance imaging, was type II (18, 54.5%). The supratentorial compartment was the most frequent location (27, 71.8%), and only six CMs (18.2%) were observed in the infratentorial compartment. Microsurgery was performed on 25 patients (75.8%), and radiosurgery was performed on eight patients (24.2%). The overall post-treatment results were positive. Only two children (6.1%) had persistent presurgical neurological signs, although the treatment ameliorated them. No progression of the preoperative neurological signs or onset of new neurological deficits was seen in any of the patients. In our patient group, the microsurgical removal of CMs resulted in the prevention of recurrent hemorrhage and the control of seizure disorders in all cases. Conclusions  Our results suggest that pediatric patients with symptomatic CMs should be treated surgically because of the risk of recurrent hemorrhaging and the general benefits of CM removal. [ABSTRACT FROM AUTHOR]

Abstract Introduction  Intramedullary cavernous angiomas (ImCA) of the spinal cord are very uncommon malformations especially in the pediatric population where only ten cases have yet been reported within the available literature. Case report  In this paper, the authors report the case of a 12-year-old girl presenting with a T11 level hematomyelia because of a cavernous angioma. Microsurgical excision was performed with good clinical outcome and no magnetic resonance imaging evidence of residual cavernoma 30 months later. Discussion  Despite the small number of cases reported in children, this one contributes to the literature identifying special features of presentation and management of ImCA for pediatric patients. Because a higher risk of recurrent bleeding has been demonstrated for ImCA, with dramatic clinical consequences, microsurgical removal remains the only definitive treatment. [ABSTRACT FROM AUTHOR]

Central nervous system (CNS) embryonal tumors, commonly found in pediatric patients, represent a heterogeneous mix of lesions with an overall poor (though improving) prognosis. Medulloblastomas are by far the most frequently encountered and most widely studied subtype, though others include atypical teratoid/rhabdoid tumors (AT/RTs), embryonal tumor with multilayered rosettes (ETMRs), and CNS neuroblastomas, FOX-R2 activated. The classification, diagnosis, and treatment of these lesions have evolved drastically over the years as their molecular underpinnings have been elucidated. We describe the most recent 2021 WHO Classification system, discuss current understanding of the genetic basis, and demonstrate current thinking in treatment for these highly complex tumors. Since surgical resection continues to remain a mainstay of treatment, preventing and managing surgical complications, especially cerebellar mutism syndrome (CMS), is paramount. We describe the current theories for the etiology of CMS and two centers' experience in mitigating its risks. As our surgical toolbox continues to evolve along with our understanding of these tumors, we hope future patients can benefit from both improved overall survival and quality of life. [ABSTRACT FROM AUTHOR]

Background: Primary central nervous system lymphoma (PCNSL) in pediatric patients presents diagnostic and treatment challenges, leading to delays and suboptimal strategies. Moreover, PCNSL in immunocompetent pediatric patients is rarely reported. This retrospective study aimed to describe the demographic and clinical features, as well as outcomes, of pediatric PCNSL cases. Methods: A retrospective review was conducted on 11 immunocompetent pediatric patients diagnosed with PCNSL between January 2012 and April 2020. Data regarding age, gender, initial presenting symptoms, tumor location, and radiological characteristics were collected. Treatment strategies and analyzed prognosis were documented. Survival curves were generated using the Kaplan-Meir method, and data were analyzed using SPSS (version 23.0, IBM Corp.). Results: The study cohort comprised 11 patients, including 10 males and 1 female. The age at diagnosis ranged from 4 to 15 years, with a median age of 10.6 years. Headache was the most common presenting symptom, observed in 81.8% (9/11) of patients. Tumor locations in the supratentorial and infratentorial regions exhibited a similar occurrence rate. All tumors showed strong contrast enhancement on T1-weighted images. The average survival time for the 11 patients was 44.4 months. Among them, 5 patients died by the last follow-up visit, with a mean survival time of 8.8 months (one patient died in a car accident). Conclusion: Headache is the predominant manifestation of PCNSL in pediatric patients. PCNSL demonstrates imaging characteristics resembling various intracranial tumors and is associated with a poor prognosis. Therefore, pediatric neurosurgeons should exercise caution in diagnosing and treating intracranial lymphoma. [ABSTRACT FROM AUTHOR]

Purpose: Atypical teratoid/rhabdoid tumours (ATRTs) are malignant embryonal tumours of childhood that affect the central nervous system (CNS). We aim to determine which factors, including patient age, extent of resection (EOR), presence of distal metastasis and use of adjuvant therapies, affect overall survival in children with atypical teratoid/rhabdoid tumours (ATRTs) treated at this single centre. Methods: Retrospective cohort review of patients with histological diagnosis of ATRT treated over 21 years (1999–2020) was conducted. Data on demographics, tumour location, presence of metastasis, use of adjuvant therapy, extent of resection (EOR), complications, neurological outcome post-surgery, and overall survival were collected. Kaplan-Meier survival analysis was performed. Results: A total of 45 children (mean age 2 years) underwent 64 operations. 25 patients were <1 year of age. Gross-total resection (GTR) pre-adjuvant therapy was achieved in 15, near-total resection (NTR) in 15, subtotal resection (STR) in 9, and biopsy in 6 children. Most children had good neurological outcomes post-operatively (28/45 with GOS 5). Fourteen patients survived longer than 4 years. Survival analysis showed a significant difference in median survival in favour of GTR and localised disease. There was no significant difference in median survival between patients <1 year vs >1 year of age (p=0.84). Conclusion: We find that presence of metastasis was an important factor in poor survival in patients with ATRT. GTR, where possible, may confer significant survival benefit in ATRT. Children aged <1 year appear to have performed as well as those >1 year and therefore should still be considered for radical surgery. [ABSTRACT FROM AUTHOR]

Purpose: The aim of the project was to evaluate intra-CSF etoposide administration in a palliative setting for children and young people with relapsed/refractory central nervous system (CNS) tumours, with the primary endpoints being overall survival and progression-free survival time. A safety endpoint was to assess the side effect profile and complications of intra-CSF etoposide. Methods: Thirty-five patients under the age of 30 years (median age: 5.33 years) were enrolled onto the project. The cross-centre study was a service evaluation, with a data collection spreadsheet designed in Nottingham and completed by both Nottingham and Oxford centres. Data was analysed using SPSS, assessing the overall survival and progression-free survival times, as well as the 6-month and 1-year survival rates. Results: The median overall survival and progression-free survival times were 10.97 and 5.91 months, respectively. The 6-month and 1-year overall survival rates were 67% and 48%, and the progression-free survival rates were 50% and 22%. Age at the start of intra-CSF therapy was significantly associated with overall survival (P = 0.046), with the 6 + age group having improved overall survival. Treatment type was significantly associated with overall survival (P = 0.012), with etoposide intra-CSF treatment being associated with improved overall survival. Treatment duration was significantly associated with both overall survival (P < 0.001) and progression-free survival (P < 0.001). Conclusion: Intra-CSF etoposide treatment has shown to increase both overall and progression-free survival significantly, whilst having few side effects and maintaining a good quality of life for patients, reflecting it as a beneficial therapy in the palliative setting. [ABSTRACT FROM AUTHOR]

Introduction : Surgical resection represents the mainstay of treatment, in pediatric central nervous system (CNS) tumors, and aggressive resection correlates with prognosis for several histotypes. Sodium fluorescein (SF), a green, water-soluble dye, is used as neurosurgical fluorescent tracer thanks to its property to accumulate in cerebral regions of blood–brain barrier disruption, acting as a valid tool to improve the extent of resection in tumors enhancing at preoperative MRI. Brain neoplasms represent a heterogeneous group of tumors in the pediatric age, constituting the most common solid cancers; they typically show a varying degree of contrast enhancement on MRI. Materials and methods: In March 2016, the authors started a prospective, observational trial to evaluate intraoperative fluorescence's characteristics of CNS tumors, the percentage of extent of resection, thanks to fluorescein aid, and side effects related to fluorescein administration. This report is based on a retrospective analysis of a group of 33 consecutive pediatric patients harboring a supratentorial lesion. Results: In 17 of 33 (51.5%) procedures, fluorescence was reported as intense; in 14 of 33 (42.4%), moderate; and in 2 of 33 (6.1%), slight. Intraoperative fluorescence corresponds to preoperative-MRI-documented contrast enhancement. In 28 of 33 (84.8%) surgical procedures, SF was considered useful; in 2 of 33 (6.1%), partial useful; and in 3 of 33 (9.1%), not essential because the tumor was already recognizable. No adverse effect to SF administration was registered. Conclusion: Fluorescein-guided surgery with a dedicated filter on the microscope is a safe and effective technique to improve visualization and resection of different pediatric brain tumors. [ABSTRACT FROM AUTHOR]

Introduction: The inflammatory myofibroblastic tumor (IMT) is a very rare lesion with an incidence of less than 0.1% of total neoplasms and with main affection in the lungs. Involvement in the central nervous system is extremely rare, but with a much more aggressive course than IMT diagnosed in the rest of the body. We report the 2 cases presented in our neurosurgery department to date; both were treated satisfactorily without intercurrences in 10 years of follow-up. Historical background: The World Health Organization described the IMT as a distinctive lesion composed of myofibroblastic spindle cells accompanied by an inflammatory infiltrate of plasma cells, lymphocytes, and eosinophils. Clinical presentation: Clinical manifestations of patients with CNS IMT vary and may consist of headache, vomiting, seizures, and blindness. Seizures are the most common symptom in patients with focal lesions. Diagnosis: The true origin of this entity remains to be elucidated, but to date, etiologies ranging from chromosomal alterations to autoimmune or postinfectious mechanisms have been described. Due to its rarity and non-specificity in imaging, the final diagnosis of IMT in the brain parenchyma relies on pathological examination. Management: Treatment options are controversial and include total or subtotal removal, high-dose steroids, and radiation therapy. In the last decade, the development of ALK Tyrosine Kinase Inhibitors allows the possibility of chemotherapy in those patients harboring ALK mutations. Conclusion: IMT is a rare tumor that can exceptionally be found in the CNS. The cause is still unknown although the different studies focus on a neoplastic origin. The diagnosis is based in the use of different modalities of imaging and with histological confirmation. Optimal management is gross total resection whenever possible, is the only established curative treatment. Further research with longer follow-up is needed to clarify the natural history of this rare tumor. [ABSTRACT FROM AUTHOR]

Purpose: Cavernous malformations (CMs) are rare developmental cerebrovascular malformations of the central nervous system with a childhood prevalence of 0.3 to 0.53%. Our purpose was to assess the clinical features and microsurgical outcome in pediatric central nervous system (CNS) CMs. Material and methods: We retrospectively enrolled all the CM patients admitted to our institute from 1 January 2001 to 31 December 2014. Data was analyzed for their clinical features and surgical outcome. Results: A total of 50 patients with CMs (30 supratentorial, 14 infratentorial, and 6 spinal) with a mean age of 14 years (3-18 years, SD ±4.64) were enrolled into the study. Most of these patients (78%) were male. Size varied from 1.2 to 6 cm. Three patients had multiple CMs. Symptoms of CMs were site specific. Seizure was the most common symptom (63.3%) of CMs at supratentorial location followed by headache (46%) and neurodeficiency (26%), while all brainstem and spinal CMs presented with neurodeficiencies. History of clinically significant acute hemorrhage was present in 19.2% of supratentorial (ST) superficial CMs, 50% of ST deep CMs, 25% of cerebellar CMs, 44.4% of brainstem CMs, and 50% of spinal CMs. Forty-five CMs in 44 patients were surgically excised. Their follow-up ranged from 6 to 162 months (mean 47.2 months, SD ±53). All supratentorial CM patients showed improvement in their symptoms. Patients with preoperative seizure showed good seizure control with Engel scale I in 16 (94.1%) and Engel scale II in 1 (5.9%). In infratentorial (IT) and spinal CM patients, 92.3 and 66.7% had improvement in their neurodeficiencies, respectively. There was no mortality in our series. Conclusion: Microsurgical excision of CNS CM results in excellent neurological outcome in pediatric patients. Early intervention is necessary in spinal CMs for better outcome. [ABSTRACT FROM AUTHOR]

Purpose: To describe the design, implementation, and adoption of a simplified electronic medical record (EMR) and its use in documenting pediatric central nervous system (CNS) tumors at a tertiary care referral hospital in South-East Asia. Methods: A novel EMR, cataloguing pediatric CNS tumors was used to collect data from August 2017 to March 2020 at National Institute of Neurosciences and Hospital (NINS&H) in Dhaka, Bangladesh. Results: Two hundred forty-nine pediatric patients with a CNS tumor were admitted to NINS&H. Fifty-eight percent of patients were male, and the median age was 8 years. A total of 188/249 patients (76%) underwent surgery during their index admission. Radiographic locations were known for 212/249 (85%) of cases; the most common radiographic locations were infratentorial (81/212; 38%), suprasellar (45/212; 21%), and supratentorial (29/212; 14%). A histopathological classification was reported on 156/249 (63%) of patients' cytology. The most common infratentorial pathologies were medulloblastoma (22/47; 47%) and pilocytic astrocytoma (14/47; 30%). The median time between admission and surgery was 36 days, while the median post-operation stay was 19.5 days. Conclusions: The feasibility of a basic EMR platform for a busy pediatric neurosurgery department in a lower-middle income country is demonstrated, and preliminary clinical data is reviewed. A wide variety of pediatric CNS tumors were observed, spanning the spectrum of anatomic locations and histopathologic subtypes. Surgical intervention was performed for the majority of patients. Barriers to care include limited molecular diagnostics and unavailable data on adjuvant therapy. Future targets include improvement of clinical documentation in the pre-operative and post-operative period. [ABSTRACT FROM AUTHOR]

Background: Pilocytic astrocytomas are the most common low-grade glioma of the central nervous system that typically occurs in children, and much research has been dedicated to characterizing their molecular features and clinical courses. We provide an overview of the current literature through the use of a bibliometric analysis of the top 100 most cited publications discussing pilocytic astrocytomas. Methods: We identified the top 100 most cited publications discussing pilocytic astrocytomas. Articles were ranked based on the number of citations. Descriptive statistics and univariate analysis were used to determine any trends or significant differences in the data. Results: Of the top 100 articles, 50 were basic science (50%), 34 were clinical (34%), and 16 were review (16%). The number of citations ranged from 79 to 921, with 123 being the median. The US had the most first authors and principal authors (n = 53 and n = 54, respectively). Years of publication had a left-skewed distribution and peaked during 2011 with 12 articles published in that year. Sixty percent of basic science articles investigated BRAF/MAPK pathways, while 67.6% of clinical articles focused on evaluating treatment options for pilocytic astrocytomas. Compared to basic science and clinical articles, review articles were published more recently (p < 0.001), had fewer authors (p = 0.025) and were published in journals with higher impact factors (p = 0.022). Conclusion: Research regarding pilocytic astrocytomas has increased over the past three decades. Future directions of research point towards employing targeted therapies and discovering additional cellular pathways contributing to disease pathogenesis. [ABSTRACT FROM AUTHOR]

Background An isolated or trapped fourth ventricle (TFV) is an occasional, serious sequela of hemorrhagic, infectious, or inflammatory conditions of the central nervous system. The TFV usually occurs after successful shunting of the lateral ventricles. It may be heralded by delayed clinical deterioration after an initial period of symptomatic improvement. The typical clinical findings suggest an expanding posterior fossa mass lesion. Surgical treatments include CSF diversionary procedures as well as open and endoscopic approaches. Complications related to the treatment of the TFV are common and relate to catheter obstruction and cranial nerve or brainstem dysfunction. Methods The author reviews the clinical features, pathophysiology, and available treatment options for the TFV, with special reference to complication avoidance and advances in ventriculoscopy and frameless stereotaxy. Conclusions Treatment of the TFV remains a formidable challenge. However, prompt recognition and intervention may aid in the preservation of life and neurological function. [ABSTRACT FROM AUTHOR]

Purpose: To systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy and provide a summary of their clinical presentation, management, and outcomes including our illustrative case. Methods: We conducted a search on the MEDLINE, PubMed, Google Scholar, and Cochrane databases using the keywords "Seckel + syndrome." We identified 127 related articles reporting 252 cases of SS apart from our case. Moreover, we searched for SS cases with CNS vasculopathies from the same databases. We identified 7 related articles reporting 7 cases of CNS vasculopathies in SS patients. Results: The overall rate of CNS vasculopathy in SS patients is 3.16% (n = 8/253), where moyamoya disease (MMD) accounted for 1.97%. The mean age is 13.5 years (6–19 years), with equal gender distribution (M:F, 1:1). The most common presenting symptoms were headache and seizure followed by weakness or coma. Aneurysms were mostly located in the basilar artery, middle cerebral artery, and internal carotid artery, respectively. Regardless of the management approach, 50% of the cases sustained mild-moderate neurological deficit, 37.5% have died, and 12.5% sustained no deficit. Conclusion: A high index of suspicion should be maintained in (SS) patients, and MMD should be part of the differential diagnosis. Prevalence of CNS vasculopathy in SS is 3.16% with a much higher prevalence of MMD compared to the general population. Screening for cerebral vasculopathy in SS is justifiable especially in centers that have good resources. Further data are still needed to identify the most appropriate management plan in these cases. [ABSTRACT FROM AUTHOR]

Introduction: Primary central nervous system (CNS) tumors represent an important and growing cause of worldwide morbidity and mortality. There are global variations in the reported case burden of CNS tumors, with high-income countries reporting a higher incidence of cases than low- and middle-income countries. Variations are attributed to differences in access to care, diagnostic capacity, risk exposure, and under-reporting in LMICs. This study aims to review existing literature on the distribution of primary CNS tumors and neuro-oncologic care, and the contribution of scientists and institutions to neuro-oncologic research across 18 East African countries over the last 5 decades. Method: A search was conducted using OVID Medline and PubMed databases to identify relevant East African neuro-oncologic studies published over the last 50 years. Results: The authors reviewed 36 neuro-oncology articles published across 8 of 18 East African countries. Kenya represented the highest number of published articles; ten countries queried yielded zero publications. A total of 2006 cases from all age groups were represented in published literature consisting of a wide spectrum of CNS tumors. One-third of reported cases were pediatric. Meningioma formed the largest proportion (43.3%) followed by glioma (33.7%). Sixty-seven percent of publications gave an overview of clinical care received by patients with most patients not receiving comprehensive neuro-oncologic care. Conclusion: The modest collection of neuro-oncology publications from East Africa shows that the case diversity of primary CNS tumors in East Africa is comparable to the rest of the world. There is, however, poorer access to neurosurgical care and adjuvant therapy. Multidisciplinary efforts from clinicians, researchers, and healthcare agencies are needed to quantify and address the requisite neuro-oncology needs in this region. [ABSTRACT FROM AUTHOR]

Purpose: Multidisciplinary team meetings (MDTMs) are essential in the clinical management of pediatric central nervous system (CNS) tumors. Evaluations of the impact of MDTMs on childhood CNS tumors and clinicians' perspectives on their effectiveness are scarce. Methods: We retrospectively reviewed the clinical data of pediatric patients (aged <18 years) with CNS tumors diagnosed and treated in the Pediatric Hematology-Oncology Division at the University Malaya Medical Center from 2008 to 2019. We also conducted a web-based survey of the core members of the multidisciplinary team to evaluate the impact of the MDTMs. Results: During the pre-MDTM era (2008–2012), 29 CNS tumors were diagnosed and treated, and during the MDTM era (2014–2019), 49 CNS tumors were diagnosed and treated. The interval for histologic diagnosis was significantly shorter during the MDTM era (p=0.04), but the interval from diagnosis to chemotherapy or radiotherapy and the 5-year overall survival of the 78 patients did not improve (62.1% ± 9.0% vs. 68.8% ± 9.1%; p=0.184). However, the 5-year overall survival of patients with medulloblastoma or rare tumors significantly improved in the MDTM era (p=0.01). Key factors that contributed to delayed treatment and poor outcomes were postoperative complications, the facility's lack of infrastructure, poor parental education about early treatment, cultural beliefs in alternative medicine, and infection during chemotherapy. Eighteen clinicians responded to the survey; they felt that the MDTMs were beneficial in decision-making and enhanced the continuity of coordinated care. Conclusion: MDTMs significantly reduced the diagnostic interval and improved the overall outcomes. However, delayed treatment remains a major challenge that requires further attention. [ABSTRACT FROM AUTHOR]

Background: Pai syndrome is a rare idiopathic developmental condition characterized by midline craniofacial abnormalities. It was originally described as the presence of a median cleft lip, cutaneous polyps of the nasal mucosa and face, and midline lipomas of the central nervous system, mostly at the corpus callosum. However, there is great phenotypical variability and these characteristics are rarely all present at once. Objective: The aim of this review was to analyze the available evidence regarding Pai syndrome in order to better delineate this rare condition and its features. Methods: We analyzed the PubMed database using the words "Pai syndrome", "frontonasal dysplasia", "cleft lip", "nasal polyp", "facial polyp", and "corpus callosum lipoma", including reviews, case reports and case series. Conclusion: There is no consensus regarding the diagnostic criteria of Pai syndrome up to date. It is usually diagnosed at birth, and its incidence is often underestimated. At present, the etiology of Pai syndrome is unknown. Several hypotheses regarding its genetic background have been made; however, there are not enough data yet to elucidate this point. An improved awareness could help in diagnosing the condition and performing the necessary investigations. These patients should have a multidisciplinary follow-up. [ABSTRACT FROM AUTHOR]

Background: Tumours are known to increase the risk of infections, especially those occurring in the central nervous system where insertion of surgical hardware/shunts such as in craniopharyngiomas may be required. However, infections are surprisingly scarce in craniopharyngioma cases. In this study, we explored the possibility of antimicrobial effects of craniopharyngioma cystic fluid. Methods: The antibacterial effect of craniopharyngioma cystic fluid samples against selected human pathogens: Escherichia. coli, S. aureus and S. pneumoniae were determined using the agar disc diffusion method. Streptomycin and ampicillin were used as controls. The test organisms were cultured in Mueller-Hinton broth overnight at 37 °C. McFarland standard was used as a reference to adjust the inoculum size of each test organism to a concentration of 1 × 106 CFU/ml using sterile broth. Results: The craniopharyngioma cystic fluid inhibited growth of Gram-positive bacteria S. aureus and S. pneumoniae, but not the Gram-negative bacteria, E. coli. The samples showed the highest zones of S. pneumoniae growth inhibition of up to 20.0 ± 1.0 mm compared with 18.0 ± 1.0 mm of streptomycin and 9.0 ± 0.0 mm of ampicillin. Conclusion: Craniopharyngioma cystic fluid showed significant antibacterial properties against Gram-positive bacteria. This novel finding has implications in the way we view infections in craniopharyngioma patients. More studies need to be carried out to further elucidate this unique finding and possibly exploit these antimicrobial properties. [ABSTRACT FROM AUTHOR]

Purpose: Intracranial ganglioneuroblastomas are incredibly rare neuroectodermal tumors with only 8 described cases total, 5 of those having imaging findings Methods: Here we present a 9-year-old female patient with 4 months progressive headaches, personality changes, and vomiting. We also present a review of the current literature of intracranial ganglioneuroblastomas. Results: Imaging demonstrated a partially calcified suprasellar mass measuring 4.6 × 6.3 × 5 cm composed of both solid and cystic components, diagnosed to be a ganglioneuroblastoma, with mass effect on the lateral and 3rd ventricles, with a midline shift of right to left of 6-7 mm. She was treated with subtotal surgical resection, an intensive chemotherapeutic regimen, and radiation and has no residual disease on imaging 1 year and 4 months status post-surgery. Conclusion: To our knowledge, this is the first case of a ganglioneuroblastoma to mimic a craniopharyngioma based upon imaging findings and suprasellar location. As these cases are extremely rare, an optimal therapeutic regimen has not been defined. However, a combination of surgical resection, chemotherapy, and radiation therapy can be effective, as shown here with successful treatment and no evidence of residual disease. [ABSTRACT FROM AUTHOR]

Introduction: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality. Background: Neuroimaging is crucial for early diagnosis, monitoring, and management of these patients. While computed tomography is generally used as first-line investigation at emergency department, magnetic resonance imaging is the reference method to define central nervous system involvement and investigate subtle pathophysiological alterations in TSC patients. Purpose: Here, we review the state-of-the-art knowledge in TSC brain imaging, describing conventional findings and depicting the role of advanced techniques in providing new insights on the disease, also offering an overview on future perspectives of neuroimaging applications for a better understanding of disease pathophysiology. [ABSTRACT FROM AUTHOR]

Purpose: Craniopharyngioma is one of the most frequent benign tumours of the central nervous system in the paediatric population. Although it is a benign tumour according to the WHO classification, it significantly deteriorates the patient's quality of life. The aim of this study is to assess if proliferation index Ki67 can be a useful marker of the risk of craniopharyngioma's recurrence. Methods: Expression of Ki67 was examined in 85 specimens of primary craniopharyngioma and in 11 specimens of the recurring tumour. In all the cases, adamantinomatous type of craniopharyngioma was diagnosed. Values of Ki67 expression were compared between patients with and without recurrence, between patients with progression and relapse and between primary and recurrent tumours. Results: No statistically significant differences were found between proliferation index Ki67 values in tumours with recurrence and without (median values 2.5% and 3%, respectively, p = 0.69). The median value of proliferation index Ki67 in progression group was 1% and in the relapse group 4%; no statistical significance between those groups was found (p = 0.067). The median value of proliferation index Ki67 in primary tumours was 3% (0–20%) and in recurrent tumours it was 5% (0–14%). Despite the lack of statistical significance (p = 0.61), a tendency towards higher values of Ki67 in recurring tumours in comparison with primary tumours was shown. Conclusions: Proliferation index Ki67 is not a reliable prognostic factor of craniopharyngioma's recurrence. [ABSTRACT FROM AUTHOR]

Background and purpose: Although advances in imaging have allowed earlier and more accurate diagnosis of various fetal anomalies, Dandy–Walker malformation (DWM) remains one of the more challenging central nervous system anomalies to diagnose accurately before birth. Basilar invagination (BI), which is a dislocation of the dens in an upward direction, is occasionally accompanied by Klippel–Feil syndrome (KFS). We report a pediatric case of BI caused by atlanto-occipital subluxation (AOS) in KFS, suspected of having DWM prenatally but head magnetic resonance images (MRI) showed no evidence of that at 7 months of age. Case: At 28 weeks of gestation, fetal MRI study revealed a small cerebellar vermis, leading us to suspect a DWM. The patient was born at 40 weeks of gestation. Head CT showed inferior vermian hypoplasia without findings of hydrocephalus. Cervicothoracic CT showed cervical lamina assimilations, thoracic hemivertebrae, and cervicothoracic scoliosis. He was diagnosed with Dandy–Walker variant and KFS. At 7 months of age, head MRI showed near normal cerebellum and vermis and there was no evidence of the DWM. He did not have intellectual or developmental delay and imaging studies were performed periodically. At 9 years of age, an already existing cough headache deteriorated. Three-dimensional reconstructed images from CT scan showed C1 hypoplasia, fusion of C1 and C2, BI, and AOS. Sagittal T2-weighted MRI showed protrusion of cerebellar tonsils inferiorly to the level of the posterior arch of C2. Serum calcium, phosphate, and parathyroid hormone levels were normal. The diagnosis was tonsillar herniation related to BI following AOS in KFS. Posterior occipitocervical fixation was performed under traction. Conclusions: We found out two important clinical issues: DWM findings after birth can be disappearing and BI can present sequential deterioration because of AOS in KFS. Our observation indicated the possible prognosis of pediatric BI with long follow-up and can help us decide on its surgical treatment timing when associated with AOS. [ABSTRACT FROM AUTHOR]

Vasculitis of the central nervous system presenting as a mass lesion is a relatively uncommon occurrence. Even more uncommon is a vasculitis mimicking a demyelinating lesion. We present here an interesting case of a 15-year-old boy who was found to have a mass-like lesion on neuroimaging involving the left subcortical white matter and deep gray matter. The differential diagnosis for this lesion was primary demyelination versus a glial tumor, the former being more favored over the latter. Biopsy of this lesion however revealed findings compatible with a vasculitis, which was unexpected given the neuroimaging findings. To the authors' knowledge, case reports in the English literature of a vasculitic lesion mimicking demyelination are scarce. This case also serves as a reminder of the diagnostic difficulty that arises in a pediatric patient with an initial presentation of mass-like lesion. [ABSTRACT FROM AUTHOR]

Introduction: A wide spectrum of etiologies can obstruct foramen of Monro (FOM) and result in hydrocephalus. Congenital occlusion of FOM is a rare entity which may present either in childhood or in adulthood.Methods: Between 2007 and 2016, we screened all pediatric patients with hydrocephalus of either one or both lateral ventricles. Congenital occlusion of FOM was confirmed in the absence of masses occupying the FOM, prenatal or postnatal central nervous system (CNS) infections, intraventricular hemorrhage, previous cerebral intervention, or associated CNS anomalies affecting the flow of cerebrospinal fluid (CSF). We have performed a comprehensive literature review of the previously reported cases and provided a tentative embryological pathogenesis of FOM occlusion.Results: We introduce 10 new cases of congenital FOM obstruction. The mean age of the patients was 6.65 ± 10.51 months. Two patients underwent ventriculo-peritoneal (VP) shunting as the primary intervention, while endoscopic septostomy was performed in the others. The mean follow-up was 3.05 ± 2.16 years (1-8 years). Although the hydrocephalus was controlled, all patients remained hemiparetic with some degree of developmental and cognitive impairments. Previously, 38 similar cases were reported: 10 of them (26.3%) were adults. Overall, VP shunting was the treatment of choice in 44.7% of patients. While most adults fully recovered, 7.2% of pediatrics remained hemiparetic and 10.7% of them had cognitive and developmental delay.Conclusion: Ten cases of congenital obstruction of the foramen of Monro have been managed through a period of 9-year study. Details of these patients in addition to 38 previously reported cases are presented in this study. [ABSTRACT FROM AUTHOR]

Purpose: Melioidosis is a potentially fatal infectious disease caused by Burkholderia pseudomallei. Neurologic involvement in pediatric age group is very rare, and only a handful of cases have been reported in literature. We sought to provide a systematic review of pediatric neurologic melioidosis. Methods: Literature review was performed to analyze reported cases of pediatric neurologic melioidosis (≤16 years) by searching online database (PubMed/MEDLINE). Results: Twenty-seven cases were analyzed. Mean age was 6.7 years (range 2 days-14 years) and around 50% were older children (>5 years). Cranial nerve palsies and fever were most common presenting features. Major manifestations were meningoencephalitis in 16 (59%) and cerebral abscesses in eight (29%) cases. Abscesses were mostly located in parietal lobe. Among older children, abscesses were common than meningeal disease, while being converse for neonates. Mean follow-up duration was 11.5 months. Ten cases showed good to excellent outcome, while eight cases had fair (incomplete recovery) outcomes. The overall mortality rate was 18.5% (5/27) and tends to decrease with age. Among the five deaths, 4 (80%) had septicemia or pneumonia. Conclusions: Pediatric neurologic melioidosis is very rare. Meningoencephalitis is the most common presentation. Mortality is the highest in neonates. Ceftazidime appears to be the drug of choice in intensive phase, although the best drug in maintenance phase cannot be commented upon, especially in very young children. [ABSTRACT FROM AUTHOR]

Objective: Central nervous system germ cell tumors (CNS GCTs) are relatively rare neoplasms. Incidence of CNS GCTs in Western literature is low (0.3-0.6 %) as compared to East Asia (3-4 %). No large study is available on CNS GCTs from India. Methods: Intracranial GCT cases were retrieved from databases of three tertiary care institutes in India; clinicopathological data was reviewed. Results: Ninety-five intracranial GCT cases were identified, accounting for 0.43 % of CNS tumors. Median age was 12 years (range, birth to 48 years); male preponderance was noted (66 %). Most patients (86.3 %) were aged <18 years. Pineal location was most common (45 %) and was associated with male gender and age >14 years. Germinoma was the commonest histopathological type (63.2 %), followed by teratoma (20 %). Suprasellar location was associated with germinoma histology. Follow-up was available for 71 patients (median, 15 months). Of these, 48 received adjuvant chemotherapy and/or radiotherapy. At the last follow-up, 44 patients showed no evidence of disease. Age >10 years, male gender, pineal location, and germinoma histology were associated with favorable outcome. Conclusion: This is the first multicentric study from India establishing that incidence of CNS GCT in India is similar to that in the West and differs from that in East Asian countries. However, similar to both, germinoma is the commonest histological type, and pineal location is most frequent. Studies on molecular alterations based on ethnicity and geographical location are necessary to provide clarity on differences in incidence. Attention needs to be focused on decreasing treatment heterogeneity and minimizing treatment-related morbidity and mortality, improving the cure rate of these highly treatable tumors. [ABSTRACT FROM AUTHOR]

Introduction: Despite being the second most frequent tumor in children, pediatric central nervous system (CNS) tumors are rare, and the published European epidemiological data is limited. Our goal is to present the first surgical series of pediatric CNS tumors in Portugal and to review other similar worldwide series. Methods: Retrospective review of all patients younger than 19 years old, operated to a CNS tumor in the Neurosurgery Department at Hospital de Santa Maria (Lisbon, Portugal) between January 2004 and December 2014. Demographic data, tumor location, clinical data, histopathology, and surgical treatment were analyzed and compared to surgical series of pediatric CNS tumors published in PubMed indexed journals over the last 20 years. Results: We performed 253 surgeries in 215 patients, with a male:female ratio of 1.2:1 and a mean age of 9.2 years old. Primary brain tumors accounted for 95 % of all tumors and had more often a supratentorial location. Tumors of neuroepithelial tissue, particularly astrocytic tumors, embryonal tumors, neuronal and mixed neuronal-glial tumors, and oligodendrogliomas accounted for 81 % of cases. A gross-total resection was achieved in most cases. There was no mortality, and the overall morbidity was low. Conclusions: The demography, topography, and clinical presentation of the tumors and the surgical results of this series are comparable to other European ones. We found a higher incidence of neuronal and mixed neuronal-glial tumors and oligodendrogliomas and a slight lower incidence of ependymomas. Our results should encourage further national multi-institutional studies to better characterize these tumors in the pediatric population. [ABSTRACT FROM AUTHOR]

Purpose: Patients with myelomeningocele have a high mortality and neurological disabilities that are correlated with the anatomical characteristics of the defect and with the development of acquired complications. The challenge in the postnatal management of myelomeningocele (MMC) is the early recognition of cases at risk for complications in order to establish individualized treatment strategies. This study aims to identify short-term prognostic markers for newborns with MMC. Anatomical characteristics of the spinal defect and technical aspects of the neurosurgical correction were analyzed for this purpose. Methods: A retrospective cohort study was conducted in 70 patients with MMC born between January 2007 and December 2013. Features of MMC anatomy and neurosurgical treatment were analyzed for the following outcomes: neonatal resuscitation, length of hospital stay, need for ventricular shunt, wound dehiscence, wound infection, central nervous system infection, and sepsis. Results: Large MMC was associated with central nervous system (CNS) infection, wound complications, and longer hospital stay. Patients with thoracic MMC required longer hospital stay. Surgical repair performed after 48 h of life increased in 5.72 times the risk of CNS infection. Absence of antenatal hydrocephalus was a favorable prognostic marker. Conclusion: Extent of the spinal cord defect and the time of surgical correction influenced the short-term outcomes of patients with myelomeningocele. Extensive lesions were associated with higher rates of CNS infections, surgical wound complications, and prolonged hospital stay. Interventions performed within 48 h after birth significantly reduced occurrence of CNS infections. Absence of antenatal hydrocephalus was associated with fewer complications in the first days of life. [ABSTRACT FROM AUTHOR]

Introduction: Posterior fossa syndrome (PFS), also known as cerebellar mutism syndrome (CMS), is a severe complication affecting children following surgery for posterior fossa brain tumours. Its incidence varies between 8 and 31 %, and its exact pathogenesis remains unclear. In this article, we aim to review the existing theories on its pathogenesis and propose a new hypothesis. Discussion: There is varying level of evidence on existing theories on the pathogenesis of PFS following surgery. These include cerebellar perfusion deficits due to vasospasm, oedema or axonal injury due to direct surgical injury and neuronal dysfunction. There is emerging evidence that interruption of the dentato-thalamo-cortical (DTC) pathway is responsible for PFS. Based on our experience with intraoperative MRI, radiological and pathological evidence on heat-related brain injury, we propose a new hypothesis implicating thermal injury resulting from the use of the Cavitron Ultrasonic Aspirator (CUSA) as an important mechanism in the pathogenesis of PFS. Conclusion: The pathogenesis of PFS is likely to be multifactorial with direct injury from surgery being a major factor. We believe that thermal injury in addition to mechanical injury to the proximal segment of the DTC plays an important role in the pathogenesis of PFS and should be considered in future research related to the aetiology, prevention and management of PFS. [ABSTRACT FROM AUTHOR]

Introduction: Cerebellar mutism (CM) is defined as a peculiar form of mutism that may complicate the surgical excision of posterior cranial fossa tumor. The incidence is variable in the literature, occurring in up to one third of cases in some series. Commonly occurring peculiar features of CM are delayed onset following surgery, limited duration, and spontaneous recovery usually associated with dysarthria. Methods: A review has been performed concerning anatomical substrates and circuits actually considered to be involved in the development of cerebellar mutism, as well as risk factors for its development that have been documented in the literature. Attention has also been given to the long-term prognosis and the possibilities of rehabilitation that can be considered in these children, which has been compared with the authors' institutional experience. Results and conclusions: Tumor infiltration of the brainstem seems to represent the most relevant feature related to the development of CM, along with the histological diagnosis of medulloblastoma. On the other hand, hydrocephalus does not represent an independent risk factor. The higher rate of CM in children seems to be related to the higher incidence in children of tumors with malignant histology and brain stem involvement. Surgical technique does not seem to have a definite role; in particular, the use of a telovelar approach as compared to vermian split to reach the fourth ventricle extension of the tumor has not been demonstrated to prevent the development of cerebellar mutism. Concerning long-term prognosis, around one third of the children who develop cerebellar mutism after surgery have a persistent dysarthria, the remaining ones showing a residual phonological impairment. Long-term dysarthric features tend to be more severe and less prone to recovery in children presenting at diagnosis with associated combined procedural memory and defective neurocognitive functions. [ABSTRACT FROM AUTHOR]

Purpose: Tumors of central nervous system (CNS) are accounted as the second most common tumors in childhood (21 % of all cancers) following hematologic malignancies. The patients can suffer more than one cancer in their lifetime, and radiotherapy is claimed for de novo formation of a new tumor in years after treatment of an initial tumor. Methods: We have retrospectively analyzed our database for defining radiotherapy-related de novo brain tumors operated in between January, 2000 and August, 2012. New tumors in the field of radiotherapy were included into the study. Results: The retrospective analysis revealed six patients (two girls and four boys) eligible for further evaluation. The children were irradiated at an age in the range of 5 and 12 years (mean, 7.8). The primary diagnoses were hematological malignancies in two (acute lymphocytic leukemia and non-Hodgkin lymphoma (NHL)) and solid tumors in other four (two pilocytic astrocytoma, one craniopharyngioma, and one grade 3 astrocytoma). All patients received cranial radiotherapy. The mean latency period for the 'second tumor' was 9.5 years. The pathological diagnoses for de novo new tumors were as follows: glial tumor (two cases), medulloblastoma (two cases), mesenchymal tumor (one case), and meningeal sarcoma (one case). All de novo tumors were high graded. Mean survival was 14.6 months. Conclusions: de novo brain tumors after irradiation has poor prognosis in neurosurgical practice. Vigilance and awareness for possibility of de novo new tumor are warranted for both families and physicians at follow-ups even years after the treatment of initial tumors. [ABSTRACT FROM AUTHOR]

Purpose: This study investigates the anatomic relationship between the superior sagittal sinus (SSS) and the sagittal suture in infants with uncorrected unicoronal synostosis. The morphology of the SSS is also evaluated postoperatively to assess whether normalization of intracranial structures occurs following reconstruction. Methods: The study sample consisted of 20 computed tomography scans (10 preoperative, 6 postoperative, and 4 unaffected controls) obtained between 2001 and 2013. The SSS and the sagittal suture were outlined using Analyze imaging software. These data were used to measure the maximum lateral discrepancy between the SSS and the sagittal suture preoperatively and to assess for postoperative changes in the morphology of the SSS. Results: In children with uncorrected unicoronal synostosis, the SSS deviates to the side of the patent coronal suture posteriorly and tends to follow the path of the sagittal and metopic sutures. The lateral discrepancy between the SSS and the sagittal suture ranged from 5.0 to 11.8 mm, with a 99.9 % upper prediction bound of 14.4 mm. Postoperatively, the curvature of the SSS was statistically decreased following surgical intervention, though it remained significantly greater than in unaffected controls. Conclusions: The SSS follows a predictable course relative to surface landmarks in children with unicoronal synostosis. When creating burr holes for craniotomies, the SSS can be avoided in 99.9 % of cases by remaining at least 14.4 mm from the lateral edge of the sagittal suture. Postoperative changes in the path of the SSS provide indirect evidence for normalization of regional brain morphology following fronto-orbital advancement. [ABSTRACT FROM AUTHOR]

Introduction: Neuroendoscopy has greatly impacted pediatric neurosurgery over the past few decades. Improved optics and microsurgical tools have allowed neuroendoscopes to be used for a multitude of neurosurgical procedures. Discussion: In this review article, we present the breadth of intraventricular neuroendoscopic procedures for the treatment of conditions ranging from hydrocephalus and brain tumors to congenital cysts and other pathologies. We critically discuss treatment indications and reported success rates for neuroendoscopic procedures. We also present novel approaches, technical nuances, and variations from recently published literature and as practiced in the authors' institution. [ABSTRACT FROM AUTHOR]

Background: Cavernous malformations (CMs) of the central nervous system (CNS) are angiographically occult vascular lesions that affect approximately 0.5 % of the general population, and one quarter of all CMs occurs in children. Methods: We retrospectively analyzed demographic, clinical, radiological, management, and follow-up data of 36 pediatric patients with CMs from a single institution. Results: The mean age of the children at first presentation and at operation was 8.7 and 9.6 years, respectively. However, a bimodal age distribution was found with peak under 4 years and above 12 years. Seizure was the most common single presenting symptom (38.9 %), and 61.1 % of patients had at least one seizure before the admission. Focal neurological deficits (410.7 %), intracranial hypertension (27.8 %), and headache (2.8 %) were the other manifestations. Acute/subacute hemorrhage was evident at presentation in 63.9 %. The patients under 6 years of age were found to have significantly more giant cavernomas (69 vs 20 %; p = 0.011), and more overt hemorrhages (81 vs 47 %; p = 0.065) at diagnosis than those patients above 12 years. Surgery was performed in 31 patients (32 CMs), with 26 total and 6 incomplete resections. Mean follow-up duration was 6.9 ± 4.1 years. Of all patients, 63.8 % had excellent and 30.5 % had good clinical outcomes, and also 90.9 % of the epileptic patients were seizure-free (Engel Class I) at the last follow-up. Conclusions: Younger children tend to harbor larger CMs and present with hemorrhage more frequently than older ones. Microsurgical resection should be the treatment of choice in symptomatic and accessible CMs. [ABSTRACT FROM AUTHOR]

Purpose: Astrocytomas are the most frequent type of tumor of the central nervous system in children. Hence, it is important to describe markers that may improve our understanding of their behavior. Mature microRNAs (miRNAs) may be such biological markers. They are small molecules of RNA that regulate gene expression post-transcriptionally. Due to their importance in cancer, the objective of the present study was to determine the profile of expression of precursor and mature forms of miR-124-3p, miR-128-1, and miR-221-3p using RT-qPCR in pediatric samples. Methods: A total of 57 astrocytomas embedded in paraffin were selected. As controls, the study included 13 samples of normal brain tissue. Results: Three of eight miRNAs were selected after a preliminary screening. All the miRNAs showed higher levels of expression in normal brain tissue. The expression of miR-124-3p and miR-128-1 decreased in astrocytomas than in normal brain tissue in all grades ( p < 0.05 in both cases), and this reduction was most evident in GIV (407- and 1,469-fold, respectively); however, the expression of the precursor forms pre-miR-128-1 and pre-miR-221 was higher in GIV (3.5-fold) than in GI. The levels of miR-128-1 were higher in infratentorial tumors than in supratentorial cases ( p = 0.006). Finally, the expression of miR-221-3p was higher in non-recurrent tumors and live patients ( p = 0.0185 and p = 0.0004, respectively). Conclusions: The low expression of these miRNAs may constitute a potential marker of astrocytomas that correlates with localization, possibly due to alterations in the maturation processes of these miRNAs that produced low mature forms in patients with recurrent pediatric astrocytomas. [ABSTRACT FROM AUTHOR]

Background: Neural tube defects (NTDs) are a group of congenital malformation of the central nervous system that leads to permanent physical disability and requires lifelong treatment. In Thailand, there have been three published articles on NTDs, all hospital-based studies, which found prevalence of NTDs of 4.8-6.7 per 10,000 live births. Objective: It was our purpose with this study to determine the prevalence and type of NTDs in southern Thailand through a population-based survey. Method: Data were obtained through the population-based surveillance during 2009-2012 in three provinces (Songkhla, Phatthalung, Trang) in southern Thailand. Entries in the birth defects registry included all live births, all stillbirths after 24-week gestational age, and termination of pregnancy following the prenatal diagnosis at any gestational age of all congenital anomalies. Results: During 2009-2012, 148,759 births were registered in the three provinces. Twenty-eight NTD cases were identified, giving an average of 1.88 per 10,000 births (95 % CI 1.20-2.51): 12 cases with anencephaly (42.8 %), 5 with occipital encephalocele (17.9 %), and 11 with myelomeningocele (39.3 %). The birth prevalence per 10,000 births of anencephaly, encephalocele, and myelomeningocele were 0.81, 0.33, and 0.74, respectively. Sixteen (57 %) were detected in live births, and 12 (43 %) were detected by prenatal diagnosis which later resulted in termination of pregnancy. Conclusions: The prevalence of NTDs based on the population-based study in southern Thailand was low. About 40 % of NTD cases were detected prenatally and later terminated. Hence, examining only registry live births will result in an inaccurately low NTD prevalence rate. [ABSTRACT FROM AUTHOR]

Objective: This study investigated epigenetic modifications in human central nervous system atypical teratoid rhabdoid tumors (AT/RTs), in response to inhibition of insulin-like growth factor receptor 1 (IGF-1R). Materials and methods: Tumor tissue was obtained from two pediatric patients, tissue was dissociated, and primary cultures were established. Cultured cells were treated with picropodophyllin (PPP; 0, 1, and 2 μM for 48 h), a selective IGF-1R inhibitor. Histone acetylation and methylation patterns (H3K9ac, H3K18ac, H3K4me3, H3K27me3) and levels of histone deacetylases (HDACs; HDAC1, HDAC3, and SirT1) and histone acetyl transferases (GCN5 and p300) were examined. H3K9ac and H3K18ac decreased in response to treatment with PPP. HDAC levels showed a biphasic response, increasing with 1 μM PPP, but then decreasing with 2 μM PPP. Conclusion: Inhibition of IGF-1R modified epigenetic status in AT/RT. Determining the mechanisms behind these modifications will guide the development of novel therapeutic targets for this malignant embryonal cancer. [ABSTRACT FROM AUTHOR]

Background: Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative, they commonly arise in the region of the foramen of Monro, where they can cause obstructive hydrocephalus and sudden death. Methods: Surgical resection has been, and presently remains, the standard treatment for SEGAs demonstrating serial growth on neuroimaging in the setting of symptomatic hydrocephalus or progressive ventriculomegaly. Discussion: Surgery can be curative; however, not all SEGAs are amenable to safe and complete resection. Gamma Knife stereotactic radiosurgery provides another treatment option but has highly variable response rates with limited data demonstrating its efficacy. Newer medical therapy targeting mammalian target of rapamycin (mTOR), the key protein kinase that is constitutively activated in TSC, has demonstrated promising results in recent clinical trials. In both case reports and clinical trials, treatment with mTOR inhibitors results in a significant reduction in SEGA volume and improvement or resolution of ventriculomegaly. This has led to the approval of everolimus for the treatment of SEGA in tuberous sclerosis patients who are not candidates for surgery. This review summarizes the surgical and medical management of SEGA in patients with TSC. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to review the epidemiology and the clinical, radiological, pathological, and follow-up data of all surgically treated pediatric meningiomas during the last 35 years in The Netherlands. Methods: Patients were identified in the Pathological and Anatomical Nationwide Computerized Archive database, the nationwide network and registry of histopathology and cytopathology in The Netherlands. Pediatric patients of 18 years or younger at first operation in 1974-2009 with the diagnosis meningioma were included. Clinical records, follow-up data, radiological findings, operative reports, and pathological examinations were reviewed. Results: In total, 72 patients (39 boys) were identified. The incidence of operated meningiomas in the Dutch pediatric population is 1:1,767,715 children per year. Median age at diagnosis was 13 years (range 0-18 years). Raised intracranial pressure and seizures were the most frequent signs at presentation. Thirteen (18 %) patients had neurofibromatosis type 2 (NF2). Fifty-three (74 %) patients had a meningioma World Health Organization grade I. Total resection was achieved in 35 of 64 patients. Fifteen patients received radiotherapy postoperatively. Mean follow-up was 4.8 years (range 0-27.8 years). Three patients died as a direct result of their meningioma within 3 years. Four patients with NF2 died as a result of multiple tumors. Nineteen patients had disease progression, requiring additional treatment. Conclusion: Meningiomas are extremely rare in the pediatric population; 25 % of all described meningiomas show biological aggressive behavior in terms of disease progression, requiring additional treatment. The 5-year survival is 83.9 %, suggesting that the biological behavior of pediatric menigiomas is more aggressive than that of its adult counterparts. [ABSTRACT FROM AUTHOR]

Introduction: Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label of 'Dandy-Walker'. Methods: An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed. Conclusion: The correct interpretation of the modern neuroradiologic techniques, including CSF flow MR imaging, may help in identifying a 'real' Dandy-Walker malformation. Among therapeutical strategies, single shunting (ventriculo-peritoneal or cyst-peritoneal shunts) appears effective in the control of both ventricle and cyst size. Endoscopic third ventriculostomy may be considered an acceptable alternative, especially in older children, with the aim to reduce the shunt-related problems. Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus. [ABSTRACT FROM AUTHOR]

Introduction: Spinal cord injury is a complex cascade of reactions secondary to the initial mechanical trauma that puts into action the innate properties of the injured cells, the circulatory, inflammatory, and chemical status around them, into a non-permissive and destructive environment for neuronal function and regeneration. Priming means putting a cell, in a state of 'arousal' towards better function. Priming can be mechanical as trauma is known to enhance activity in cells. Materials and methods: A comprehensive review of the literature was performed to better understand the possible chemical primers used for spinal cord injuries. Conclusions: Taken together, many studies have shown various promising results using the substances outlined herein for treating SCI. [ABSTRACT FROM AUTHOR]

Purpose: The water channel, aquaporin (AQP)1, is highly specific to the choroid plexus (CP) epithelium within the brain. It is therefore a potential target through which therapeutic agents could be selectively directed to the CP. Here we describe the conjugation of a monoclonal antibody (mAb), raised against an extra-cellular domain of AQP1, to the A chain of ricin (RCA). This reagent should allow study of a highly specific chemical lesion of the CP. Methods: A published method was used to couple the anti-AQP1 mAb to the A chain of ricin using an SPDP cross-linker. The conjugate was purified by Superdex S-200 chromatography. Column fractions were analysed by SDS-PAGE and Western blotting. Fractions containing conjugate were assayed for cytotoxicity on rat CP cells in culture, using a WST-1 viability assay to assess cell death. Results: SDS-PAGE and Western blotting demonstrated separation of conjugated anti-AQP1 mAb from unconjugated ricin by the Superdex column. Cultured rat CP cells were killed with an IC of 1.81 μg/ml when exposed to the anti-AQP1 mAb-RCA conjugation reaction products. Selectivity of this reagent was demonstrated by the higher IC exhibited by non-AQP1-expressing primary fibroblast cultures and cultures exposed to the reaction products from the non-specific IgG-RCA conjugation attempt. Conclusion: We have been able to demonstrate selective cytotoxicity in vitro of an anti-AQP1 mAb-RCA conjugate. We hope that this work will generate further interest in the use of this site-specific conjugate to target the CP in conditions such as hydrocephalus, tumours that arise from here, and other AQP1-expressing tumours. [ABSTRACT FROM AUTHOR]

Object: The incidence of ependymoma in patients with neurofibromatosis-2 (NF-2) is low and information regarding treatment and prognosis is lacking. We present two cases of cervicomedullary tumors in patients with NF-2 from our institution, and we provide a review of the literature in order to summarize the known clinical information about this rare occurrence. Patients and methods: Patient #1 had histological confirmation of ependymoma and was treated with subtotal resection followed by observation and has had no evidence of progression for 11 months. Patient #2 has been observed for 4 1/2 years without treatment for a cervicomedullary tumor, which appears to be an ependymoma by imaging. Although it has increased in size very slowly, there have been no clinical symptoms. Among the additional 21 cases of NF-2 and ependymoma from the literature, the most common location is the cervical spine (70%), and the median age at diagnosis is 15 years. Surgical resection was performed in 85% of the cases and subtotal resection in 64% of cases. Fifteen patients (75%) were reported alive at the time of the published reports, with survival ranging from 0.1 to 10 years, and the 8-year survival estimated as 51%. Survival was related to the location of the tumor. Conclusions: We conclude from our two cases and review of the existing literature that NF-2 associated spinal ependymomas have an indolent course and typically can be observed or treated by surgical excision alone. [ABSTRACT FROM AUTHOR]