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Fetal ventriculomegaly is associated with varying degrees of genetic and structural abnormalities. The objective was to present the experience of fetal ventriculomegaly in a large European center in relation to: 1. grade of ventriculomegaly; 2. additional chromosomal/structural abnormalities; and 3. perinatal survival rates.This was a prospective observational study of patients referred with fetal ventriculomegaly from January 2011 to July 2020. Data were obtained from the hospital database and analyzed to determine the rate of isolated ventriculomegaly, associated structural abnormalities, chromosomal/genetic abnormalities, and survival rates. Data were stratified into three groups; mild (Vp = 10-12 mm), moderate (Vp = 13-15 mm) and severe (Vp 15 mm) ventriculomegaly.There were 213 fetuses included for analysis. Of these 42.7% had mild ventriculomegaly, 44.6% severe and 12.7% had moderate ventriculomegaly. Initial ultrasound assessment reported isolated ventriculomegaly in 45.5% fetuses, with additional structural abnormalities in 54.5%. The rate of chromosomal/genetic abnormalities was high,16.4%. After all investigations, the true rate of isolated VM was 36.1%. The overall survival was 85.6%. Survival was higher for those with isolated VM across all groups (P 0.05).Ventriculomegaly is a complex condition and patients should be counselled that even with apparently isolated VM, there remains the possibility of additional genetic and/or structural problems being diagnosed in up to 10% of fetuses.

We present the case of a pregnant 32-year-old woman who presented with a giant fetal facial tumour at 22 weeks. The mass, initially 4 × 3.5 × 3 cm in size, was largely cystic with a small solid component. It subsequently increased to 9 × 9 × 10 cm. Significant compression effects on the fetal orbit, temple and infratemporal fossa, with potential compression of the optic nerve, were noted on ultrasound and MRI. The cyst required drainage twice in the pregnancy: firstly to reduce the compression effects and secondly to facilitate caesarean delivery. Postnatally, the baby had significant compression and displacement of the craniofacial skeleton from the mass effect. Postnatal histology revealed a diagnosis of a teratoma. This case highlights the complexities and challenges surrounding the diagnosis and management of a giant fetal facial tumour.

Severe fetal ventriculomegaly (VM) is defined as an enlargement of the atria of the lateral cerebral ventricles (Vp) of greater than 15 mm. While it is well established that it confers significant risk of morbidity and mortality to the neonate, there is limited information pertaining to the caesarean delivery rates and the obstetric management of these complex cases. The aim of this study was twofold: firstly, to determine survival rates in fetuses with severe VM, and secondly to determine the caesarean delivery rates in continuing pregnancies. We explore the obstetric challenges associated with these difficult cases.This was a prospective observational study of patients with antenatal severe VM, attending the Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland, from 1st January 2011 to 31st July 2020. Data were obtained from the hospital database and those with severe VM (Vp 15 mm) were identified. The rates of chromosomal abnormalities, the survival rates and the caesarean delivery (CD) rates for the overall group were then determined. The data were then further sub-divided into two groups: 1. Vp 20 mm and 2. Vp 20 mm, and the results compared. Statistical analysis was performed using the Chi-Square test.A total of N = 95 pregnancies with severe VM were included for analysis, of which additional structural abnormalities on ultrasound were apparent in 67/95 (70.5%) and 28/95 (29.5%) had isolated severe VM. Chromosomal abnormalities were diagnosed in 15/95 (15.8%) of cases, with (2/28) 7.1% in the isolated SVM group versus (13/67) 19.4% in the non-isolated SVM group. The overall survival rate (excluding TOP) was 53/74 (71.6%), with 20/23 (86.9%) in the isolated SVM group. The overall CD rate was 47/72 (65.3%), which was significantly higher than the CD for the hospital during the same time period of 25.4% (P 0.01). The data were subdivided into Vp 20 and Vp 20 and those with a Vp 20 had higher rates of additional intracranial findings on ultrasound (Vp 20 13/41 (31.7%) versus Vp 20 32/54 (59.3%) (P 0.05)) and macrocrania (Vp 20 14/41 (34.1%) versus Vp 20 35/54 (64.8%) (P 0.05)). No significant difference was observed in the overall survival or CD rates between the two groups.In conclusion this study reports significant fetal morbidity and mortality with severe VM with high CD rates observed in this cohort. Significant challenges exist in relation to the obstetric management and counseling of parents regarding an often uncertain neonatal prognosis. In continuing pregnancies with significant macrocrania delivery plans should be individualized to improve neonatal outcomes where possible and minimize harm to the mother.

Paediatric high grade glioma and diffuse midline glioma (including DIPG) are comprised of multiple biological and clinical subgroups, the majority of which urgently require novel therapies. Patient-derivedin vitroprimary cell cultures represent potentially useful tools for mechanistic and preclinical investigation based upon their retention of key features of tumour subgroups under experimental conditions amenable to high-throughput approaches. We present 17 novel primary cultures derived from patients in London, Dublin and Belfast, and together with cultures established or shared from Barcelona, Brisbane, Rome and Stanford, assembled a panel of 52 models under 2D (laminin matrix) and/or 3D (neurospheres) conditions, fully credentialed by phenotypic and molecular comparison to the original tumour sample (methylation BeadArray, panel/exome sequencing, RNAseq). In screening a subset of these against a panel of ~400 approved chemotherapeutics and small molecules, we identified specific dependencies associated with tumour subgroups and/or specific molecular markers. These includedMYCN-amplified cells and ATM/DNA-PK inhibitors, and DIPGs withPPM1Dactivating truncating mutations and inhibitors of MDM2 or PARP1. Specific mutations inPDGFRAwere found to confer sensitivity to a range of RTK inhibitors, though not all such mutations conferred sensitivity to targeted agents. Notably, dual PDGFRA/FGFR and downstream pathway MEK inhibitors showed profound effects against both PDGFRA-sensitising mutant and FGFR1-dependent non-brainstem pHGG and DIPG. In total, 85% cells were found to have at least one drug screening hit in short term assays linked to the underlying biology of the patient’s tumour, providing a rational approach for individualised clinical translation.

This paper reviews CNS involvement secondary to malignant-mixed Müllerian tumor or uterine carcinosarcoma, a rare aggressive biphasic Müllerian tumor. We report a cerebellar metastasis with epithelial and mesenchymal components, demonstrating heterologous rhabdomyogenic and chondroblastic differentiation. The patient had undergone total abdominal hysterectomy and bilateral salpingo-oophorectomy for palliation of symptomatic chemotherapy-resistant node-positive disease. CNS involvement is rare, and prognostically poor, and suggestively poorer in predominantly sarcomatous metastases. Multimodal therapy is indicated; in solitary metastases, surgical resection or stereotactic radiosurgery is included, followed by whole brain radiotherapy. In unresectable brain metastases, stereotactic radiosurgery and whole brain radiotherapy warrant consideration in up to 2–3 metastases. In multiple metastases, palliative steroid therapy or cranial irradiation may be considered. Combination or platinum-based chemotherapy (i.e., ifosfamide-paclitaxel or carboplatin-paclitaxel) is indicated in all stages, with a role in both disease cure and control-directed management. Targeted therapeutics have thus far not demonstrated significant clinical efficacy.

Summary Background Insertion of a ventriculoperitoneal shunt for hydrocephalus is one of the commonest neurosurgical procedures worldwide. Infection of the implanted shunt affects up to 15% of these patients, resulting in prolonged hospital treatment, multiple surgeries, and reduced cognition and quality of life. Our aim was to determine the clinical and cost-effectiveness of antibiotic (rifampicin and clindamycin) or silver shunts compared with standard shunts at reducing infection. Methods In this parallel, multicentre, single-blind, randomised controlled trial, we included patients with hydrocephalus of any aetiology undergoing insertion of their first ventriculoperitoneal shunt irrespective of age at 21 regional adult and paediatric neurosurgery centres in the UK and Ireland. Patients were randomly assigned (1:1:1 in random permuted blocks of three or six) to receive standard shunts (standard shunt group), antibiotic-impregnated (0·15% clindamycin and 0·054% rifampicin; antibiotic shunt group), or silver-impregnated shunts (silver shunt group) through a randomisation sequence generated by an independent statistician. All patients and investigators who recorded and analysed the data were masked for group assignment, which was only disclosed to the neurosurgical staff at the time of operation. Participants receiving a shunt without evidence of infection at the time of insertion were followed up for at least 6 months and a maximum of 2 years. The primary outcome was time to shunt failure due the infection and was analysed with Fine and Gray survival regression models for competing risk by intention to treat. This trial is registered with ISRCTN 49474281. Findings Between June 26, 2013, and Oct 9, 2017, we assessed 3505 patients, of whom 1605 aged up to 91 years were randomly assigned to receive either a standard shunt (n=536), an antibiotic-impregnated shunt (n=538), or a silver shunt (n=531). 1594 had a shunt inserted without evidence of infection at the time of insertion (533 in the standard shunt group, 535 in the antibiotic shunt group, and 526 in the silver shunt group) and were followed up for a median of 22 months (IQR 10–24; 53 withdrew from follow-up). 32 (6%) of 533 evaluable patients in the standard shunt group had a shunt revision for infection, compared with 12 (2%) of 535 evaluable patients in the antibiotic shunt group (cause-specific hazard ratio [csHR] 0·38, 97·5% CI 0·18–0·80, p=0·0038) and 31 (6%) of 526 patients in the silver shunt group (0·99, 0·56–1·74, p=0·96). 135 (25%) patients in the standard shunt group, 127 (23%) in the antibiotic shunt group, and 134 (36%) in the silver shunt group had adverse events, which were not life-threatening and were mostly related to valve or catheter function. Interpretation The BASICS trial provides evidence to support the adoption of antibiotic shunts in UK patients who are having their first ventriculoperitoneal shunt insertion. This practice will benefit patients of all ages by reducing the risk and harm of shunt infection. Funding UK National Institute for Health Research Health Technology Assessment programme.

Background To date, children with hydrocephalus continue to have a considerable long-term outcome. However, current literature on health-related quality of life (HRQOL) among children with hydrocephalus are limited. This serves a call for research to validate a suitable HRQOL for children with hydrocephalus measuring the physical, emotional, social and cognitive well being. Objective To validate a technology-enhanced quality of life questionnaire (EITVAQ) as an effective assessment tool measuring the current well-being of a child with hydrocephalus (child-centred) To adopt a technology-enhanced quality of life assessment tool (EITVAQ) into a phone/tablet application to gain widespread usage To explore the use of technology to increase the learning potential and obtaining a new skill among children with hydrocephalus Methods This is a prospective study which took place since January 2018 to January 2019. This study received ethical approval All data was compiled and analysed using SPSS. The validation process involved: Content Validity, Feasibility and Reliability. A cohort of 70 healthy children from various primary and secondary schools participated as a control. Finally, a small cohort of children with hydrocephalus participated in technology-enhanced learning programme (TELP) to learn a new music skill and created a music video. Results This study reports the result of the validation process. In total there were 132 participants. Content validity was achieved by the nominal group technique. In this study, technology enhanced quality of life questionnaire (EITVAQ) is a feasible tool, having a high satisfaction rate of 78%, a response rate of 76.5% and an average completion time of 4 mins and 26 seconds. EITVAQ had a score of 0.92 (Cronbach Alpha). When comparing with the control, the two lowest scores were the social and emotional aspect. The two major differences in scores among both groups were the physical and cognitive well-being. All participants who participated in the TELP managed to complete the task learning the skills of creating a music video. Conclusion EITVAQ, an interactive and child-friendly tool to assess quality of life is now validated. It aims to be used widely among children with hydrocephalus, providing a baseline assessment to allow us to understand more about a child’s quality of life from their own perspective. This study concludes that technology has a huge potential in helping children with hydrocephalus and various neuro-disability to integrate into society.

Introduction Differentiation between plagiocephaly and craniosynostosis continues to provide a challenge for the clinician. Historically, initial investigations would have included a skull x-ray. However, it is widely accepted that this investigation is difficult to interpret and its value in diagnosis of craniosynostosis is debated. Aside from creating the burden of additional investigations, it also exposes children to ionising radiation. Aim and Objectives Examine the correlation between reported skull x-rays and clinical diagnosis of craniosynostosis to establish their diagnostic value and value in management of abnormal skull shape. Methods Retrospective chart review conducted as a 2 part study in children who were referred with a skull x-ray. Part A: Referrals of abnormal skull shapes to the National Pediatric Craniofacial Center (NPCC), Temple Street Children’s Hospital, between 1st January 2015 and 30th May 2017 Part B: Children who underwent surgery for a confirmed craniosynostosis between 1st January 2011 - 25th October 2017. Results and Findings Part A: 300 children were referred with 59 skull x-rays. This represented 20% of all patients referred during the time period. Of these 44 (75%) were found to be a match with 15 (25%) not matching the final clinical diagnosis. Part B: 274 children underwent surgery for a confirmed craniosynostosis between 1st January 2011 - 25th October 2017. 63 pts had skull x-rays on referral- this represents 23% of all operated children in the time period. Of these 41 (63%) were found to be a match with 17 (29%) not matching the final clinical diagnosis. 5 (8%) were inconclusive. Conclusions Part A: In 25% of the children referred to the NPCC with abnormal skull shape, their clinical diagnosis did not match their x-ray report. As such, skull x-rays did not contribute to their management. Part B: In 35% of children who underwent surgery for craniosynostosis, their clinical diagnosis did not match their radiological diagnosis. In the remaining children who had a skull x-ray performed and underwent surgery for craniosynostosis, the majority (88%) had a subtype of craniosynostosis which our clinical team who feel confident to diagnosis clinically without imaging. As such, it can be said that in 92% of children who underwent surgery at the NPCC the x-ray did not contribute to their management. We recommend clinicians should check with the NPCC with respect to the protocol for x-rays where craniosynostosis is suspected as in most cases the diagnosis is clinically obvious to the craniofacial surgeon.

Background Craniosynostosis is a congenital condition resulting from premature fusion of the cranial sutures resulting in a phenotypic headshape. Nonsyndromic craniosynostosis, involving a single suture only; is the most common presentation involving the fusion of one of the following sutures; sagittal, metopic, coronal or lambdoid. The National Paediatric Craniofacial Centre in Temple Street Children’s University Hospital is the designated craniofacial centre in the Republic of Ireland. The treatment of craniosynostosis involves appearance-changing surgery designed to normalise the headshape. As with most other designated craniofacial centres the aim is to perform surgery as close to 12 months of age as possible for these children. The clinical presentation of craniosynostosis as with most rare diseases can result in an over-reliance on different types of radiology imaging, a subsequent later referral and surgery being performed at a later age. The aim of this review was to report the referral patterns of children with metopic, coronal and lambdoid nonsyndromic craniosynostosis presenting to the NPCC. Methods A retrospective chart review of children who underwent surgery for metopic, coronal or lambdoid craniosynostosis between January 2009 and December 2018 was undertaken. Data collected included: patient demographics, hospital of birth, referrer specialty, date of referral and any radiology investigations performed. Children subsequently diagnosed with a syndrome were excluded. Results 130 patients were included in the review. 80% (n=104) were referred before 10 months of age. There was a high use of radiology imaging with 71% (n= 92) of all children having at least one radiology investigation prior to referral. 15% (n=19) had multiple radiology investigations performed. Paediatricians and Neonatologists referred the largest number of children; 58% (n=75) and 22% (n=28) respectively. Surgery was performed before 15 months of age for 44% (n=57) of children and before 18 months of age for a further 26% (n=34) of all children. Conclusion The incidence of metopic, coronal and lambdoid craniosynostosis is in keeping with reported rates in Europe. Although most children were referred before 10 months of age complex referral patterns and use of radiology imaging were associated with later referrals, leading to subsequent delays in surgery performed. It is hoped that an increased awareness of recognising and referring children with craniosynostosis will lead to subsequent treatment as early as possible. The NPCC encourages that referral letters for children with suspected craniosynostosis are accompanied by photographs of the child’s headshape and not radiology investigations.

Introduction There is a paucity of knowledge regarding Sleep Disordered Breathing (SDB) in paediatric patients with Spina Bifida/Myelomeningocoele (SB/MMC). Undiagnosed, untreated SDB has detrimental effects on growth, development (1) and cognition (2) which is especially important to recognise in those with other co-morbidities as is the case in SB/MMC. Aim There are currently 317 patients aged 0–16 years attending the Spina Bifida service at Temple Street Children’s University (TSCUH). Fourteen of 317 patients (4.4%) currently require Non-Invasive Ventilation (NIV) therapy for SDB under the care of the Respiratory Team. We hypothesize that a subpopulation of the SB/MMC patients are at risk of undiagnosed SDB. We aimed to initially review the demographics of the sub-group of SB/MMC patients currently requiring NIV by assessing for potential predictors of SDB. Method We used up to date medical records of the patients under our care to look for potential predictors for SDB, in particular hydrocephalus with VP shunt, Chiari II malformation and intellectual disability (ID). We then compared our data to what is known about the general SB/MMC population. Results 100% of SB patients with SDB requiring NIV had hydrocephalus with VP shunt compared to 80% in general SB/MMC patients. 92% also had Chiari II malformation. 50% had a moderate to severe ID in contrast to 25–25% of the general SB/MMC population. Conclusion A higher proportion of SB/MMC patients known to have SDB have hydrocephalus and ID compared to the SB/MMC population mean. At present there is no standardised screen for SDB in our SB/MMC patients. The results of this review have prompted a clinical audit of all of SB/MMC patients at TSCUH to identify those at higher risk of SDB and ultimately determine the prevalence of SDB in this population. References ‘How do we recognize the child with OSAS?’ Joosten KF, et al. Pediatric Pulmonology 2017 Feb;52(2):260–271. ‘Association of Sleep-Disordered Breathing With Cognitive Function and Risk of Cognitive Impairment: A Systematic Review and Meta-analysis.’ Leng Y, et al. JAMA Neurology 2017 Oct 1;74(10):1237–1245.

The authors describe the case of a 3-year-old boy with a giant congenital vertex hemangioma who underwent presurgical embolization with Onyx (ethylene-vinyl alcohol copolymer dissolved in dimethyl sulfoxide) and Glubran (N-butyl-2-cyanoacrylate). This vascular tumor had no intracranial vascular communication as assessed by pre-embolization MRI and catheter angiography. All embolizations were performed by direct percutaneous injection. One week following the last embolization procedure the child presented with a 24-hour history of ataxia and extrapyramidal tremor. He was diagnosed with a possible immune-mediated reaction to Onyx or Glubran, which was treated with an urgent surgical excision of the hemangioma followed by intravenous administration of immunoglobulin and steroids. To the authors' knowledge, this is the first case of possible immune-mediated toxicity secondary to either Onyx or Glubran administration. This case highlights the need for awareness of potential toxic reactions to these embolic agents in the treatment of hemangiomas in the pediatric patient.

BACKGROUND: Ireland has the highest rate of melanoma related deaths in Europe. Despite the incidence of melanoma reaching record highs there remains a paucity of information in Ireland regarding the factors associated with melanoma brain metastasis (MBM). METHODS: Patients diagnosed with MBM in Ireland were retrospectively identified in Beaumont Hospital between 1999 and 2018. Patient demographics; year of detection of MBM, age at diagnosis of primary melanoma, age at detection of MBM, anatomical location of primary melanoma, BRAF mutation analysis and the number of metastases were investigated. Follow up data was also derived, including overall survival (OS). RESULTS: The incidence of malignant melanoma has increased by 158% over the past 20 years with 1,092 and 422 cases diagnosed in 2018 and 1999, respectively.128 patients with melanoma brain metastases were identified during this period. The median OS after detection of MBM was 5 months (95% CI 0.641–9.359 months). There was a male predominance (n= 77/128; 60%) with a median age of death at 58 years (n=67; range 16–82 years). Although females had a significantly longer time between diagnosis of primary melanoma and detection of MBM compared to males, 4 and 2 years respectively (p=0.02442), there was no significant age difference at death between males and females (p= 0.41294). BRAF mutation was an independent prognostic factor with an improved overall survival compared to those without the mutation, of 8 months and 3.5 months respectively (p=0.0012). Although non significant, the primary location of melanoma, leptomeningeal disease and number of cerebral metastases were all important considerations in this group. CONCLUSIONS: Male predominance and BRAF mutation represent important factors in this population group. The results of this study add to our knowledge concerning outcomes in melanoma brain metastases in Ireland, and may be useful in clinical planning, educational programs and future treatments.

We present a very rare case of indirect cavernous carotid fistula (CCF) in a 12-year-old girl. Indirect CCF is extremely rare in the paediatric population. A 12-year-old girl presented with a 7-month history of frontal headaches and intermittent left-sided proptosis. On examination, she had dilated and engorged scleral veins on the left eye, mild dysdiadochokinesia and past pointing on the left side. A brain computer tomography with contrast, brain magnetic resonance imaging (MRI) and interventional radiography (IR) cerebral angiogram confirmed the diagnosis of CCF. The CCF was embolized and a follow-up brain MRI and an IR cerebral angiogram were conducted over the course of 8 months that revealed no evidence of residual CCF. CCF, though rare in the paediatric population, should be highly considered in the differential diagnosis when dilated scleral veins, proptosis and dysdiadokinesis are present in the clinical setting. Prompt treatment has good prognostic results.

There are two errors and one omission in the original article. Author Gottardo's correct name is Nicholas G. Gottardo, author Hulleman's correct affiliation is no. 3 (VUMC, Amsterdam), and the Acknowledgements should include the following sentence: "We would like to thank Dr Angel Montero Carcaboso (Hospital Sant Joan de Deu, Barcelona, Spain) for generously supplying the HSJD-DIPG007 cells."

BACKGROUND: The Electronic Integrated Text, Visual and Audio Questionnaire (EITVAQ) was designed towards developing a disease-specific tool to measure child health status from a child’s perspective. EITVAQ’s outcome is anticipated to be positive, introducing a child-friendly health measurement tool. METHODS: This was a prospective crossover pilot study that compared EITVAQ to a printed text 2-paged paper questionnaire (TEXT) format quality of life questionnaire in paediatric hydrocephalus patients. The study was conducted from November 2015 to June 2016 in the Neurosurgical Outpatient Department, Temple Street, Children University Hospital. Data was compiled for both EITVAQ and TEXT and analyzed using Software Package using Statistical Analysis (SPSS). FINDINGS: There was a 100% rate of completion for EITVAQ. However, only 9 (37.5%) of the patients managed to complete the text format. The mean time to complete EITVAQ was 7 minutes. There are 32 questions found in EITVAQ. The mean score for EITVAQ was 132.92 (83%) satisfactory score. Using Pearson Chi-Square Test, the P-Value is 0.341. Although this is not a significantly substantial value, however, patient with less surgical procedure were able to complete EITVAQ 18.9% more than patient with more than 5 surgical procedures. Furthermore, there was no real correlation between the gross motor function classification system (GMFCS) score and the inability to complete the TEXT format. CONCLUSIONS: In this study, the results support that EITVAQ is a better tool to evaluate the health status of paediatric hydrocephalus patients as it is tailored according to their disability needs.

The authors report a case of high-grade glioma with unusual pathology that has not previously been reported in glioma pathology. The 5-year-old patient presented to the emergency department with a 1-day history of a right temporal swelling on a background history of increasing nausea and vomiting for the preceding 5 months. A computed tomography brain was performed, which showed a large right-sided temporoparietal lesion. The patient underwent surgery to remove the mass and pathology confirmed anaplastic astrocytoma (WHO Grade 3). This report focuses on prognostic factors in high-grade glioma, particularly on pathological indicators, namely epidermal growth factor receptor, O6-methylguanine-DNA-methyltransferase expression and BRAF V600D mutation.

This report describes a novel method of repair for a large thoracolumbar myelomeningocele with an associated lumbar kyphosis in the neonate. A Caucasian male child was born at term with an antenatal diagnosis of hydrocephalus and spina bifida. Lumbar spine X-ray showed a significant kyphosis at L2–L3 level. Kyphectomy was performed and a cervical plate was used to reduce the gibbus deformity and maintain a rigid construct. Local rotation flaps were elevated and advanced to cover the defect. Wound was well healed at 3-month follow-up and the patient remained shunt-free at 1 year. To our knowledge, this is the first description of myelomeningocele repair with kyphectomy and posterior fixation in a neonate.

Ventriculoperitoneal (VP) shunt insertion is one of the most common neurosurgical procedures for the treatment of chronic hydrocephalus. Although regarded as a relatively benign procedure, several complications including obstruction, infection and mechanical failure can be seen during the postoperative stage. Symptomatic sterile cerebrospinal fluid (CSF) ascites and hydrothoracies are rare complications of VP shunt surgery. The paucity of cases makes identifying the aetiological factors difficult, particularly without catheter tip migration. It is most likely that several factors interact to reduce the absorption of CSF. The authors discuss the case of a 5-year-old girl who developed CSF ascites and a pleural effusion after starting chemotherapy for a suprasellar pilocytic astrocytoma, 2 years post-VP shunt insertion, due to a secondary obstructive hydrocephalus. After the initial management of the presenting symptoms, the child9s VP shunt was subsequently changed to a ventriculo-atrial shunt and the patient made an unremarkable recovery. We also review the literature pertaining to this rare complication, assessing identifiable risk factors and surgical management options.

LG-48. PAEDIATRIC LOW GRADE GLIOMAS IMPACT OF GROSS TOTAL RESECTION IN A SINGLE CENTRE COHORT Noelle Cullinan1, John Caird2, Michael Capra1, Jane Pears1, Cormac Owens1, andDarachCrimmins2; DepartmentofHaematology/Oncology,Our Lady’s Children’s Hospital, Dublin, Ireland; Department of Paediatric Neurosurgery, Children’s University Hospital, Temple Street, and Beaumont Hospital, Dublin, Ireland AIMS: Completely excised paediatric low grade gliomas (LGGs) are associated with excellent survival rates. Complete resection is not always achievable. We reviewed the Irish neurosurgical experience of paediatric LGGs over a 10-year period. METHODS: We performed a retrospective review of all paediatric patients with LGG diagnosed in the Republic of Ireland between 2005-2014. RESULTS: 112 children were diagnosed over a 10-year period (52 male (46%), 60 female (53%), Age range 0.23–15.87 years, Mean 7.03 years, Median 6.3 years). 111 children had surgical procedures – 14 (13%) had biopsies alone, 16 (14%) had biopsies followed by later resections, while 79 (71%) had upfront craniotomies with resection. We were unable to identify the type of procedure in 2 children. 1 child had a radiological diagnosis of aLGG but no confirmatorybiopsy.79 patientshadupfront craniotomies. In 77/79, all required information was available. 40/77 (52%) had Gross Total Resection (GTR) confirmed by post-operative imaging and 37/77 (48%) had incomplete resections. Of those who had GTR confirmed (excluding patients with Neurofibromatosis Type 1), 3 patients (4%) relapsed or had disease progression in follow-up, with early progression noted, all within 15 months after resection. All others are currently disease free in follow up (96%). CONCLUSION: In those with confirmed GTR on post-operative imaging, recurrence, if it occurred, was early. We propose that scanning intervals can be increased after 2 years and ongoing need for imaging surveillance in those with confirmed GTR should be reviewed. Neuro-Oncology 18:iii78–iii96, 2016. doi:10.1093/neuonc/now075.48 #The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

We describe a case of acute functional deterioration in a 13-year-old girl with severe spastic diplegia (GMFCS III) and a new diagnosis of diffuse intrinsic pontine glioma (DIPG). She presented with acute deterioration in mobility and motor function over 1 month, which was associated with dysarthria, dysphagia and behavioural change. Her mother had noticed subtle functional deterioration over the 2 months prior to this. Her physiotherapist who was concerned about her acute functional deterioration referred her for emergency review. Neurological imaging revealed a diffuse pontine lesion consistent with DIPG. She was subsequently referred to oncology. She deteriorated further, clinically, over the next few days and following discussion with the team; her family opted for palliative treatment, given the poor prognosis associated with DIPG.

Object. Neuroendoscopists often note pulsatility or flabbiness of the floor of the third ventricle during endoscopic third ventriculostomy (ETV) and believe that either is a good indication of the procedure's success. Note, however, that this belief has never been objectively measured or proven in a prospective study. The authors report on a simple test—the hydrostatic test—to assess the mobility of the floor of the third ventricle and confirm adequate ventricular flow. They also analyzed the relationship between a mobile floor (a positive hydrostatic test) and prospective success of ETV. Methods. During a period of 3 years between July 2001 and July 2004, 30 ETVs for obstructive hydrocephalus were performed in 22 male and eight female patients. Once the stoma had been created, the irrigating Ringer lactate solution was set at a 30-cm height from the external auditory meatus, and the irrigation valve was opened while the other ports on the endoscope were closed. The ventricular floor ballooned downward and stabilized. The irrigation valve was then closed and ports of the endoscope were opened. The magnitude of the upward displacement of the floor was then assessed. Funneling of the stoma was deemed to be a good indicator of floor mobility, adequate flow, and a positive hydrostatic test. All endoscopic procedures were recorded using digital video and recordings were subsequently assessed separately by two blinded experienced neuroendoscopists. Patients underwent prospective clinical follow up during a mean period of 11.2 months (range 1 month–3 years), computerized tomography and/or magnetic resonance imaging studies of the brain, and measurements of cerebrospinal fluid pressure through a ventricular reservoir when present. Failure of ETV was defined as the subsequent need for shunt implantation. The overall success rate of the ETV was 70% and varied from 86.9% in patients with a mobile stoma and a positive hydrostatic test to only 14.2% in patients with a poorly mobile floor and a negative test (p < 0.05). The positive predictive value of the hydrostatic test was 86.9%, negative predictive value 85.7%, sensitivity 95.2%, and specificity 66.6%. Conclusions. The authors concluded that the hydrostatic test is an easy, brief test. A positive test result confirms a mobile ventricular floor and adequate flow through the created ventriculostomy. Mobility of the stoma is an important predictor of ETV success provided that there is no obstruction at the level of the arachnoid granulations or venous outflow. A thin, redundant, mobile third ventricle floor indicates a longstanding pressure differential between the third ventricle and the basal cisterns, which is a crucial factor for ETV success. A positive hydrostatic test may avert the need to insert a ventricular reservoir, thus avoiding associated risks of infection.

Meningiomas represent approximately one third of all primary central nervous system tumors in adults. Multiple meningiomas are usually associated with neurofibromatosis type 2 (NF2) disease, which is caused by mutations in the NF2 gene. Recent reports have also shown multiple meningiomas to be associated with schwannomatosis disease, which is caused by mutations in the SWI/SNF chromatin remodeling complex subunit, SMARCB1. In a subset of individuals, multiple meningioma disease is a discrete entity, inherited in an autosomal dominant manner unrelated to NF2 or SMARCB1 mutations. We sought to discover novel genes associated with a predisposition to meningioma development by exome sequencing of germline DNA three unrelated individuals with familial multiple spinal meningiomas, who did not have germline NF2 or SMARCB1 mutations. Two of these three individuals harbored heterozygous novel loss-of-function mutations in the SWI/SNF complex subunit, SMARCE1. Sanger sequencing of SMARCE1 in lymphocyte DNA from six additional individuals with spinal meningiomas identified another two novel heterozygous loss-of-function mutations. Tumors from individuals with germline SMARCE1 mutations were demonstrated a clear cell histological subtype and all demonstrated loss of SMARCE1 protein consistent with a tumor suppressor mechanism. Our findings define multiple spinal meningioma disease as a novel discrete entity and implicate the SWI/SNF chromatin remodeling complex in the pathogenesis of meningiomas and tumors with clear cell histology. Citation Format: Miriam J. Smith, James O'Sullivan, Sanjeev S. Bhaskar, Kristen D. Hadfield, Gemma Poke, John Caird, Saba Sharif, Diana Eccles, David FitzPatrick, Daniel Rawluk, Daniel du Plessis, William G. Newman, D. Gareth Evans. SMARCE1 mutations cause inherited multiple spinal meningiomas. [abstract]. In: Proceedings of the AACR Special Conference on Chromatin and Epigenetics in Cancer; Jun 19-22, 2013; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2013;73(13 Suppl):Abstract nr A35.

Cerebral cavernous malformation (CCM) in infants tends to have genetic predisposition. These cavernomas have a progressive course of events and associated neurological symptoms with increase in age. They most commonly present with seizure and syndrome of increased intracranial pressure comprising of headache, vomiting and focal neurological signs. We describe a case of a 7-month-old infant who presented with an acute onset of right facial paralysis with a background of familial CCM. The CT and MRI scan revealed fresh haemorrhage in the right cerebellar and pontine cavernomas with surrounding oedema and no evidence of obstructive hydrocephalus. These two cavernomas re-bled in a week duration causing episodes of incessant crying and irritability. After discussing the pros and cons of treatment, owing to stable clinical status, the patient is currently been managed conservatively.

Traumatic brain injury (TBI) is a leading cause of death and disability, especially in young persons, and constitutes a major socioeconomic burden worldwide. It is regarded as the leading cause of mortality and morbidity in previously healthy young persons. Most of the mechanisms underpinning the development of secondary brain injury are consequences of disruption of the complex relationship between the cells and proteins constituting the neurovascular unit or a direct result of loss of integrity of the tight junctions (TJ) in the blood-brain barrier (BBB). A number of changes have been described in the BBB after TBI, including loss of TJ proteins, pericyte loss and migration, and altered expressions of water channel proteins at astrocyte end-feet processes. There is a growing research interest in identifying optimal biological and radiological biomarkers of severity of BBB dysfunction and its effects on outcomes after TBI. This review explores the microscopic changes occurring at the neurovascular unit, after TBI, and current radiological adjuncts for its evaluation in pre-clinical and clinical practice.