Dens Growth After Surgical Fixation in Children with Morquio-Brailsford Disease.

Mucopolysaccharidosis type IVA is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase. Mucopolysaccharidosis type IVA is multisystemic disease with significant spinal involvement and atlantoaxial instability leading to neural compression and significant morbidity. Dens hypoplasia is a common feature of this condition. In this study we demonstrate that after spinal fixation, there is new growth of dens in significant proportion of patients, suggesting atlantoaxial instability as one of the major driving forces of lack of development of dens in this condition.

Retroflexed dens in paediatric Chiari 1 patients and implications: Single centre retrospective study.

INTRODUCTION: Chiari 1 malformation and hind brain hernia can be associated with skull base and craniocervical anomalies. One of the more recently associated anomalies is a retroverted or retroflexed odontoid process or dens. We conducted a retrospective study of our operated symptomatic and conservatively managed asymptomatic Chiari cohort to assess the impact of dens retroflexion on rate of revision or cerebrospinal fluid diversion following primary foramen magnum decompression (FMD). METHODS: We undertook a retrospective study of all foramen magnum decompression (FMD) cases for Chiari type 1 malformation performed over a 15-year period in a single tertiary paediatric neurosurgical unit. For comparison, non-operated asymptomatic Chiari cases were considered as reference cohort. Information gathered included: demographics, age, sex, length of cerebellar tonsils below McRae's line, pB-C2 distance (a line drawn perpendicular to one drawn between the basion and the posterior aspect of the C2 body), angle of retroflexion (angle formed between a line drawn through the odontoid synchondrosis and its intersection with a line drawn from the tip of the odontoid process) and angle of retroversion (angle formed between the line drawn from the base of C2 and its intersection with a line drawn from the tip of the odontoid process). Grade of retroflexion was measured using pre-operative mid-sagittal MR images and classified as grade 0 (> 90°), grade 1 (85°-89°); grade 2 (80°-84°) and grade 3 (< 80°). The rates for redo surgery or need for cerebrospinal fluid (CSF) diversion were obtained from clinical records and compared in the operated and non-operated groups. RESULTS: One hundred twenty-six Chiari 1 patients were included in this study with adequate imaging. Sixty-five patients were in the non-operated asymptomatic cohort with 61 patients in the operated symptomatic cohort. Mean age of non-operated cohort was 10.2 years with M:F ratio (30:35). Mean cerebellar tonsillar length below McRae's line was 10.3 mm. 7.7% of this cohort had associated syrinx. Mean angles of retroversion and retroflexion were 76 and 78°, respectively. Retroflexion grades included (9.2% grade 1, 35% grade 2 and 52.3% grade 3). pB-C2 distance was 6.8 mm. Mean age of operated cohort was 11.3 years, with M:F ratio (21:40). Mean cerebellar tonsillar length below McRae's line was 15 mm. 45.9% of this cohort had associated syrinx. Mean angles of retroversion and retroflexion were 73 and 74.5°, respectively. Retroflexion grades included (4.9% grade 1, 16.5% grade 2 and 78.6% grade 3). pB-C2 distance was 6.9 mm. No association was identified between retroflexion grade and rate of revision or CSF diversion following primary foramen magnum decompression. CONCLUSION: The operated Chiari 1 cohort had more retroflexed dens, longer tonsils and associated syrinx compared to the non-operated asymptomatic cohort.

Medulloblastomas, CNS embryonal tumors, and cerebellar mutism syndrome: advances in care and future directions.

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.

Trampoline-Associated Cranial and Spinal Injuries: A 10-Year Study in a Pediatric Neurosurgery Center.

OBJECTIVE:  There has been an increasing use of trampolines for recreation by children in recent years. Many studies have explored the different types of injuries sustained due to falls from trampolines, but so far none have focused specifically on cranial and spinal injuries. In this study, we describe the pattern of cranial and spinal injuries sustained by pediatric patients that were associated with the use of trampolines and their management in a tertiary pediatric neurosurgery unit over a period of 10 years. METHODS:  This is a retrospective study of all children less than 16 years of age with suspected or confirmed trampoline-associated cranial or spinal injuries, managed by a tertiary pediatric neurosurgery unit from 2010 to 2020. Data collected included the patient's age at the time of injury, gender, neurological deficits, radiological findings, management, and clinical outcome. The data were analyzed to highlight any trends in the pattern of injuries. RESULTS:  A total of 44 patients with a mean age of 8 years (ranging from one year and five months to 15 years and five months) were identified. 52% patients were male. 10 patients (23%) had a reduced Glasgow Coma Scale (GCS) score. In terms of imaging findings, 19 patients (43%) had a radiologically positive head injury, nine (20%) had a craniovertebral junction (CVJ) injury, including the first (C1) and second (C2) cervical vertebrae, and six (14%) had an injury involving other parts of the spine. No patient sustained concurrent head and spinal injuries. Eight (18%) patients had normal radiological findings. Two (5%) had incidental findings on radiology that required subsequent surgery. A total of 31 patients (70%) were managed conservatively. 11 patients (25%) underwent surgery for their trauma, of which seven were cranial. Two further patients underwent surgery for their incidental intracranial diagnoses. One child died from an acute subdural hemorrhage. CONCLUSIONS:  This study is the first to focus on trampoline-associated neurosurgical trauma and report the pattern and severity of cranial and spinal injuries. Younger children (less than five years of age) are more likely to develop a head injury, whereas older children (more than 11 years of age) are more likely to develop a spinal injury following the use of a trampoline. Although uncommon, some injuries are severe and require surgical intervention. Therefore, trampolines should be used prudently with the appropriate safety precautions and measures.

Molecular subgroup of medulloblastoma: evaluation of contribution to CSF diversion following tumour resection.

INTRODUCTION: Medulloblastoma is the commonest malignant brain tumour in children. Pre-operative hydrocephalus is present in up to 90% of these patients at presentation. Following posterior fossa surgery, despite resolution of fourth ventricular obstruction, a proportion of these children will still require cerebrospinal fluid (CSF) diversion for management of persistent or new hydrocephalus. Various scoring systems have been developed to predict the risk for CSF diversion following posterior fossa surgery. However, no accurate tool exists regarding which pathological subset or group of medulloblastoma patients will require a shunt post-operatively. In this study we investigated the impact of molecular subgroup of medulloblastoma on shunt dependency post-operatively in paediatric patients. METHODS: We undertook a retrospective multi-centre study of children with medulloblastoma who underwent tumour resection. Those with available molecular subgroup were identified. Demographic data and clinical parameters including age, sex, presence of pre-operative hydrocephalus, extent of surgical resection, evidence of metastasis/leptomeningeal disease and need for CSF diversion post-operatively were further analysed. RESULTS: Sixty-nine children with medulloblastoma with available molecular data were identified during the study period with male to female ratio of 1.5:1 (42M:27F). Twelve patients (17.4%) belonged to SHH, 10 (14.5%) Wnt, 19 (27.5%) Group 3 and 15 (21.7%) Group 4; 13 (18.8%) were non-specified Group 3 or 4. A total of 18 (26%) patients had evidence of leptomeningeal disease at presentation (20% of Wnt, 42% of Group 3, 33% of group 4, 23% of group 3/4, and 0% of SHH). Fifteen patients (22%) underwent post-operative ventriculoperitoneal (VP) shunt insertion. No patient in the Wnt group required ventriculoperitoneal (VP) shunt post-operatively in this cohort. Need for shunt was associated with pre-operative hydrocephalus, leptomeningeal disease, with molecular group 3 or 4 demonstrating higher rate of leptomeningeal disease, and pre-operative hydrocephalus. Age, extent of resection and pre-operative EVD were not associated with need for shunt in this cohort. Regression analysis identified only pre-operative hydrocephalus and leptomeningeal disease as independent predictors of need for shunt post-resection in this cohort. CONCLUSION: All patients requiring permanent post-operative VP shunt belonged to non-Wnt groups, particularly group 3 and 4. Although medulloblastoma subgroup does not independently predict need for post-operative shunt, presence of leptomeningeal disease and pre-operative hydrocephalus, and their higher prevalence in group 3 and 4, likely account for observed higher rate of shunting in these groups.

Spinal canal stenosis in children with achondroplasia: the role of augmentation laminoplasty-a 15-year single institution experience.

PURPOSE: Achondroplasia typically results in compressive spinal canal stenosis in one-third of children, but rare under the age of 15 years. Laminectomy is the mainstay of treatment but this leads to instability and progressive deformity requiring complex fixation. In order to reduce that risk, we developed a novel modified augmented laminoplasty that increases spinal canal diameter while preserving the posterior column stability. METHODS: All laminoplasty cases for spinal compressive achondroplasia from 2006 to 2020 were included. Ten augmentation laminoplasty procedures were performed in 7 children with regular clinical and radiological post-operative follow-up. Kyphotic deformity and clinical outcomes (neurological and urological) were evaluated. RESULTS: At presentation, clinical features included radiculopathy, neurogenic claudication or acute cauda equina compression with sphincter dysfunction. The average age at initial surgery was 11.2 (range 5-16) with a mean follow-up of 5 (range 2-8) years. All patients demonstrated improvement in neurogenic claudication symptoms after surgery; however, bladder dysfunction persisted in some children. In one child, cervical and lumbar augmentation laminoplasties were performed for concomitant disease. Augmentation laminoplasty effectively prevented deformity progression over time in all cases except one where a further revision laminoplasty with extension was required for screw loosening. Despite this, progressive symptomatic kyphotic deformity led to a 360° fixation. Minor complications included one dural breach (repaired intraoperatively) and one superficial wound infection. CONCLUSION: Augmentation laminoplasty is a viable surgical option following laminectomy in achondroplasia patients as an alternative to surgical fixation. Fixation can be reserved for cases where there is progressive deformity and kyphosis.

Clinical features and outcome in pediatric arteriovenous malformation: institutional multimodality treatment.

PURPOSE: Intracranial arteriovenous-malformation (AVM) is a relatively rare condition in pediatrics, yet is a major cause of spontaneous intracranial hemorrhage with a risk of fatal hemorrhage reported to be between 4 and 29%. Little is known about vessel morphology and optimum treatment modalities including multimodality combination therapy and prognosis in children. METHODS: A retrospective review of all children presenting to our institution from 2006 to 2020 that had an AVM was undertaken. RESULTS: A total of 50 children were identified with median age of 11 (range 1-16) years. The mean follow-up was 7.6 years. Forty-one children presented as an emergency and of those, 40 had hemorrhage identified on initial brain imaging. The average nidus size was 25 mm, drainage was superficial in 51% of cases, and located in eloquent cortex in 56%. The supplemental Spetzler-Martin grading indicated 78% (39/50) were grade 4 and above (moderate to high risk). Primary treatment modalities included embolization in 50% (25) or SRS in 30% (15) and surgery in 20% (10).The AVM was obliterated on follow-up DSA in 66% children. Three children had post-treatment hemorrhage, two related to embolization and one the day following SRS, giving a re-bleed rate of 6%. The GOSE was available for 32 children at long term follow and 94% had a good outcome (GOSE 5-8). Two children died due to acute hemorrhage (4%). CONCLUSION: The majority of children with AVM present with hemorrhage. The rebleed rate during definitive treatment is low at 6% over the study period. The selective use of the 3 modalities of treatment has significantly reduced mortality and severe disability.

Amplitude-reduction alert criteria and intervention during complex paediatric cervical spine surgery.

Objective: To determine the utility of widely used intraoperative neuromonitoring (IONM) alert criteria and intervention for predicting postoperative outcome following paediatric spinal surgery. Methods: Retrospective analysis of somatosensory evoked potentials (SSEP) and motor evoked potentials (MEP) in consecutive cervical spine fixations. An intervention protocol followed amplitude-reductions in SSEPs (≥50 %) and/or MEPs (≥80 %). Alert breaches were reversed when SSEP/MEP amplitude was restored to > 50 %/20 % of baseline. Sensorimotor function was assessed preoperatively and 3-months postoperatively via the Modified McCormick Scale score (MMS). We explored associations between postoperative outcome, demographic/surgical and IONM variables. Results: Forty-five procedures in 38 children (mean age:9 ±â€¯4 years;55 % female) were monitored, 42 %of which breached alert criteria. Instrumentation (6/19,32 %) and hypotension (5/19,26 %) were common causes for alert and the majority (13/19,68 %) were reversed following intervention. There was an association between pre- and post-MMS and the type of breach (p = 0.002). All children with worse postoperative MMS (3/38,8%) had irreversible breaches. Conclusions: IONM in this small sample accurately detected neurological injury. The majority of breaches reversed following an intervention protocol. Irreversible breaches frequently led to worse postoperative sensorimotor function. Significance: An intervention protocol which reversed IONM alerts never resulted in postoperative worsening of sensorimotor function.

Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.

BACKGROUND: Achondroplasia is the commonest skeletal dysplasia of autosomal dominant inheritance caused by "gain of function" mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum compression due to accelerated ossification and spinal canal stenosis secondary to reduced interpedicular distance is a hallmark of achondroplasia, driven by G380R nucleotide pair substitution. In severe cases, limb weakness and neurogenic claudication will require surgical decompression. Rarely, a neurological condition may mimic the compressive spinal dysfunction and therefore, non-surgical causes must also be considered in cases of acute neurological deterioration in children with achondroplasia. Myasthenia gravis (MG) is an autoimmune condition resulting in fatigable muscle weakness. There are no reported cases of myasthenia gravis in achondroplasia in the literature. RESULTS: We report a child with achondroplasia scheduled for decompressive surgery for severe lumbar canal stenosis presenting with neurological claudication and knee weakness. While waiting for surgery during the COVID-19 pandemic, she developed generalized fatigability and severe weakness raising concerns of acute worsening of cord compression. Urgent investigations ruled out spinal cord compression but identified an unexpected concurrent myasthenia gravis with positive antibodies to acetylcholine receptors. The surgical intervention was postponed averting the potential risk of life-threatening anaesthetic complications. She was successfully managed with a combination of pyridostigmine, steroids, azathioprine, and plasma exchange. CONCLUSION: We report the first case of myasthenia gravis in achondroplasia and review implications in the management.

Posterior Calvarial Distraction in older paediatric population: single centre paediatric neurosurgery craniofacial unit outcomes.

PURPOSE: Posterior calvarial distraction (PCD) is a safe and effective technique used to increase cranial vault volume and therefore reduce intracranial pressure in children with complex craniosynostosis. Optimal timing and method used for PCD is controversial. This procedure is usually performed in children younger than 2 years. Literature regarding calvarial distraction in older children is sparse and limited. We report our single-centre experience with PCD in children aged 6 and above to outline the applications, benefits and challenges of employing this technique in an older paediatric population. METHODS: A retrospective analysis of a database on craniofacial cases from 2006 to 2021 was performed. Patients undergoing PCD were identified and children aged 6 and above at the time of operation were included. Data on demographics and clinical outcomes were obtained from electronic records and relevant imaging was reviewed. All cases were reviewed prior to a decision for surgery by the multidisciplinary craniofacial team (composed of neurosurgery, maxillofacial and plastics teams) and underwent surgery in our paediatric craniofacial centre. RESULTS: Overall, 98 PCD cases were identified during the study period, of which 20 cases were identified as having undergone PCD at age 6 or above with mean age of 8.8 years (range 6-18). The most common indication was pansynostosis associated with raised intracranial pressure. Four cases had calvarial remodelling previously and represented with symptoms of raised intracranial pressure sometime after their initial surgery requiring PCD as rescue procedure. Average duration of inpatient stay was 5.85 days. The average duration of follow-up was 3.5 years (0.3 to 11 years). Mean distraction distance achieved was 22.5 mm (18-29 mm). Five patients experienced complications related to wound infection or distractor. Follow-up assessment in all patients demonstrated evidence of vault expansion and symptomatic improvement and resolution of intracranial pressure signs. Comparison with younger cohort did not reveal any difference in any parameters except lower rate of transfusion in the older cohort compared to young cohort (5% vs 38%). CONCLUSION: Posterior calvarial distraction in older children is safe and effective for vault expansion and treatment of raised intracranial pressure in selected cases. A multidisciplinary craniofacial team approach is crucial for appropriate case selection and management in order to optimise outcomes.

Posterior Calvarial Augmentation for Chiari Malformation Type 1 Refractory to Foramen Magnum Decompression.

BACKGROUND: Chiari 1 malformation is a structural abnormality of the hindbrain and posterior fossa characterized by herniation of the cerebellar tonsils through the foramen magnum. Although asymptomatic in some cases, hindbrain herniation can be associated with disruption of cerebrospinal fluid flow dynamics at the craniovertebral junction and syrinx formation, leading to symptoms. Foramen magnum decompression with or without duraplasty has been the most commonly performed surgical procedure in the management of this condition. The management of syringomyelia associated with Chiari malformation is more challenging and controversial. Although the associated syrinx can significantly improve after craniovertebral decompression and restoration of cerebrospinal fluid flow, in some cases, it will persist despite decompressive surgery and could even continue to enlarge. CASE DESCRIPTION: We have described the case of a 4-year-old boy with non-craniosynostotic Chiari malformation and extensive cervical syrinx who, despite foramen magnum decompression and further revision, continued to deteriorate clinically and radiologically. Posterior calvarial augmentation was performed as a salvage procedure, with resolution of the tonsillar herniation and syrinx. CONCLUSIONS: Posterior calvarial augmentation is a viable option for patients with Chiari malformation refractory to foramen magnum decompression.

Paediatric developmental venous anomalies (DVAs): how often do they bleed and where?

INTRODUCTION: Developmental venous anomalies (DVAs) are anomalies of venous drainage and considered a low-flow malformation. Studies evaluating natural history and risk factors for intracranial haemorrhage in the paediatric population are rare. We evaluate clinical and radiological features, risk factors and outcomes of paediatric DVAs. METHODS: A retrospective study was conducted over a 10-year period between 2004 and 2014. Medical records, imaging and prospective databases were reviewed. Three-hundred-and-three radiological studies in total were evaluated. RESULTS: Fifty-two children (20 boys and 32 girls [median age: 6 years] were identified with DVAs. Their age distribution was as follows: 1.9% neonates (< 1 month), 11.5% infants (1 month to 1 year), 30.8% 1-5 years, 30.8% 5-12 years and 25% 12-16 years. The majority (92.3%) presented with asymptomatic DVAs identified incidentally. Overall, anatomical distribution revealed predilection for frontal region (42.3%) with other common sites being posterior fossa (17.3%) and basal ganglia (13.5%). Temporal (11.5%), parietal (9.6%) and occipital (5.8%) were the remainder. Associated cavernous malformations (CMs) were present in 3/52 (5.8%), and no DVAs were associated with aneurysms or arteriovenous malformations (AVMs). Three patients had more than one DVA. There were three deaths unrelated to DVAs over median follow-up of 3.8 years. Four patients (7.7%) suffered DVA-related intracranial haemorrhage presenting with neurological deficits. The ages of the children with DVA-related haemorrhages were 21 days, 2 years and 6 months, 7 years and 1 month and 11 years and 7 months. Left-sided DVA haemorrhages predominated (3/4, 75%). The relative risk of a cerebellar DVA haemorrhage compared to its supratentorial counterpart was 5.35 (OR 6.8, 95% CI 0.8-58). DISCUSSION: DVA-related haemorrhage is sevenfold greater in our paediatric cohort compared to adults and is significantly associated with cerebellar location and cavernous malformations. There were no haemorrhages over a median period of 3.8 years of prospective follow-up.

Paediatric spondylodiscitis: a 10-year single institution experience in management and clinical outcomes.

PURPOSE: Discitis in the paediatric population poses diagnostic challenges due to non-specific presenting symptoms and difficulty with expressing pain in non-communicating children. Discitis remains a relatively rare condition in the paediatric population and previous reports are limited to small cohorts. In this article, we report our experience in management of discitis over a 10-year period and review the literature on this topic. METHODS: We retrospectively reviewed cases of paediatric discitis/spondylodiscitis over a 10-year period between 2008 and 2018 managed in our regional paediatric neurosurgery unit. Relevant demographic information, microbiological data, blood investigation profile, antibiotic treatment duration and clinical outcomes were interrogated from clinical notes and electronic databases and further analysed. RESULTS: Overall, 21 cases of paediatric discitis were identified from year 2008 to 2018 with a female to male ratio of 1.3:1. The mean age at presentation was 4.3 years (range 1 to 15 years). Overall, there were 19 cases of lumbosacral/lumbar, 1 thoracic and 1 cervical discitis. The mean duration of follow-up was 20 months (range 6 to 69 months). The most common presenting features were back pain and refusal to walk/sit or weight bear. Erythrocyte sedimentation rate (ESR) was found to be more sensitive than C-reactive protein (CRP) (sensitivity 78% versus 38%) in our cohort. Computer tomography (CT)-guided biopsy was performed in five cases and only one of these was positive (20%). All patients were treated with intravenous antibiotics with resolution of discitis. CONCLUSIONS: Presentation of discitis in children can be non-specific and requires high index of suspicion. CT-guided biopsy in our cohort revealed a low rate of positive cultures. Despite negative blood cultures and CT-guided biopsy results, empirical intravenous antibiotics were effective in treating discitis successfully. In our cohort, low yield of CT-guided biopsy does not support its use on each case and this may be reserved for cases resistant to antimicrobial therapy or concerns regarding other pathology mimicking infection. Better understanding and awareness of this condition and its pathophysiology can lead to timely imaging, diagnosis and treatment.

Consent in paediatric neurosurgery: adequacy of documentation and parental perspectives.

INTRODUCTION: Consenting paediatric patients for surgical procedures remains inherently unique in that it is underpinned by principles such as parental responsibility, assessment of the child's capacity to consent, and adherence to national/legal guidelines. Quality record keeping is an important objective evidence to demonstrate the highest standards of medical care provided to our patients. The consent form is a crucial medical record encapsulating the attainment of informed consent from a parent/guardian for performing a procedure on their child. We aimed to prospectively evaluate the consenting process in our department to assess adequacy of documentation and parental perspectives. METHODS: A prospective study using qualitative descriptive design was conducted with parents of 50 children requiring neurosurgical procedures over a 3-month period. RESULTS: All patients understood the primary diagnosis and type of surgery. Procedure-specific risks were understood by 98% and 84% could remember the mentioning of general risks of surgery. Only a minority of parents (24%) could recollect that alternative options of management including no treatment were discussed. In cases where relevant, laterality was only documented in 56% of consent forms. All patients felt that an informed decision regarding consent to surgery was made. However, 12% suggested areas where further improvement could be made in the timing of consent and the way information could be better provided. DISCUSSION: Consent is more than a signature on a form. It provides objective evidence of a shared decision-making process between the surgeon, patient, and their parent/guardian. Our initial study highlights multiple areas for improvement.

Paediatric intracranial aneurysms: a British institutional review.

INTRODUCTION: Paediatric intracranial aneurysms are rare, with a differing natural history and thought to account for only up to 7% of all intracranial aneurysms. There is much uncertainty that surrounds the prevalence of unruptured intracranial aneurysms and it is estimated to be anywhere between 2 and 90 per 1000. This is the largest British single-centre analysis of paediatric intracranial aneurysms. We present the patient course from their initial presentations to the outcome of treatment and evaluate a serial assessment of adequacy of aneurysmal obliteration radiologically. RESULTS: Twenty-two paediatric cases were identified that required treatment. The median age of presentation was 11.3 years (mean 9.9, range 0 to 15.9), 68% (15/22) were male and 77% (17/22) were ruptured on presentation. The majority of aneurysms were located at the anterior circulation (77% (17/22)). The overall median aneurysm size (n = 21) was 7.4 mm (mean 5 mm, range 2.5-19 mm). Twenty patients survived the acute phase and 80% (16/20) underwent coil embolisation and the other patients' surgical clipping. The overall outcomes were available for the 20 patients; on discharge, 90% (18/20) had a favourable clinical outcome (GOS score of 3-5). Treatment-specific clinical favourable outcomes were 88% (14/16) for coil embolisation against 100% (4/4) after surgical clipping. Of the two patients that died in the acute phase, one had sickle cell anaemia. Aneurysm aetiology was unknown in all other cases. None of the patients had a family history of aneurysms. CONCLUSION: Paediatric intracranial aneurysms while rare should be considered a differential diagnosis of children presenting with unexplained loss of consciousness with or without focal neurological deficit and/or headache. There is a two to one preponderance for males with a larger proportion of aneurysms within the posterior circulation (25%). Coil embolisation is the preferred method of securing a paediatric intracranial aneurysm.

Biological material collection to advance translational research and treatment of children with CNS tumours: position paper from the SIOPE Brain Tumour Group.

Paediatric CNS tumours are the most common cause of childhood cancer-related morbidity and mortality, and improvements in their diagnosis and treatment are needed. New genetic and epigenetic information about paediatric CNS tumours is transforming the field dramatically. For most paediatric CNS tumour entities, subgroups with distinct biological characteristics have been identified, and these characteristics are increasingly used to facilitate accurate diagnoses and therapeutic recommendations. Future treatments will be further tailored to specific molecular subtypes of disease, specific tumour predisposition syndromes, and other biological criteria. Successful biomaterial collection is a key requirement for the application of contemporary methodologies for the validation of candidate prognostic factors, the discovery of new biomarkers, the establishment of appropriate preclinical research models for targeted agents, a quicker clinical implementation of precision medicine, and for other therapeutic uses (eg, for immunotherapies). However, deficits in organisational structures and interdisciplinary cooperation are impeding the collection of high-quality biomaterial from CNS tumours in most centres. Practical, legal, and ethical guidelines for consent, storage, material transfer, biobanking, data sharing, and funding should be established by research consortia and local institutions to allow optimal collection of primary and subsequent tumour tissue, body fluids, and normal tissue. Procedures for the collection and storage of biomaterials and related data should be implemented according to the individual and organisational structures of the local institutions.

Pseudotumor cerebri syndrome in childhood: incidence, clinical profile and risk factors in a national prospective population-based cohort study.

AIM: To investigate the epidemiology, clinical profile and risk factors of pseudotumor cerebri syndrome (PTCS) in children aged 1-16 years. METHODS: A national prospective population-based cohort study over 25 months. Newly diagnosed PTCS cases notified via British Paediatric Surveillance Unit were ascertained using classical diagnostic criteria and categorised according to 2013 revised diagnostic criteria. We derived national age, sex and weight-specific annual incidence rates and assessed effects of sex and weight categories. RESULTS: We identified 185 PTCS cases of which 166 also fulfilled revised diagnostic criteria. The national annual incidence (95% CI) of PTCS in children aged 1-16 years was 0.71 (0.57 to 0.87) per 100 000 population increasing with age and weight to 4.18 and 10.7 per 100 000 in obese boys and girls aged 12-15 years, respectively. Incidence rates under 7 years were similar in both sexes. From 7 years onwards, the incidence in girls was double that in boys, but only in overweight (including obese) children. In children aged 12-15 years, an estimated 82% of the incidence of PTCS was attributable to obesity. Two subgroups of PTCS were apparent: 168 (91%) cases aged from 7 years frequently presented on medication and with headache and were predominantly female and obese. The remaining 17 (9%) cases under 7 years often lacked these risk factors and commonly presented with paralytic squint. CONCLUSIONS: This uniquely large population-based study of childhood PTCS will inform the design of future intervention studies. It suggests that weight reduction is central to the prevention of PTCS.