Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder with a wide clinical spectrum. The most common brain tumor associated with TSC is the low grade subependymal giant cell astrocytoma. Reports of high grade primary brain tumors in patients with TSC are rare. TSC1/2 mutation has been identified in glioblastoma (GBM) even though it probably does not increase the overall risk for GBM in patients with TSC. We present a 58-year-old patient with known TSC, admitted for new neurological symptoms, diagnosed with a large heterogeneous tumor involving most of the corpus callosum. Stereotactic needle brain biopsy confirmed the diagnosis to be GBM. Five previously reported similar cases are reviewed, reflecting diversity in clinical and radiological findings and indicating that a high index of clinical suspicion must be maintained in patients with TSC.

The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.

Background: Craniovertebral junction (CVJ) and cutaneous tuberculosis (TB) are both rare, each occurring in 0.3–1.0% of patients. To our knowledge, there are no existing cases reporting these manifestations of TB simultaneously. We report a case of TB involving the left CVJ as well as the skin, and discuss our management while providing a review of the literature. Case Description: An adult patient was presented with progressive nocturnal neck pain associated with the development of several skin lesions. Investigations revealed multiple osseous lesions including the left CVJ. Biopsy of the CVJ lesion was unamenable due to proximity of the vertebral artery; therefore, the patient underwent biopsy of the other sites. Histological examination demonstrated features consistent with TB infection and the patient commenced 12 months of standard anti-TB therapy with cervical spine immobilization. At 2-month review, the patient was well with a near-complete resolution of neck pain and cutaneous lesions. Repeat imaging at 6 months follow-up demonstrated a stable C1 lesion with no evidence of instability. Conclusion: CVJ TB may be treated solely with anti-TB therapy and immobilization to good effect if there is no gross instability or neurological deficit. Similarly, cutaneous TB responds well to standard anti- TB therapy. Our experience suggests that co-existing tuberculous lesions in the CVJ and skin can be simultaneously managed with standard therapy without significant alterations to treatment regimes or prognosis.

Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization.

Pilocytic astrocytomas (PA) are benign neoplasms commonly located in the cerebellum with a peak incidence in the first two decades of life. PA occurrence in adults is rare and very little information is available in the literature about tumour characteristics in this population. This study retrospectively identified 20 adults with PA. The characteristics of the tumour, treatment modalities and patient outcomes are discussed, as well as identifying factors that may be associated with worse prognosis. The mean age at diagnosis was 27 years. The majority of PA were located in the posterior fossa. Other tumour locations included the cerebral hemispheres, brainstem, tectal plate and optochiasmatic region (optic chiasm, hypothalamus and third ventricle). All patients in this study underwent surgery, two received adjuvant chemotherapy and one received adjuvant radiotherapy. Tumour recurrence occurred in six patients and two eventually died from the disease. When achieved, complete tumour resection was found to be curative. Tumour location affects extent of surgical resection; tumours in inaccessible locations were associated with higher rates of recurrence. Overall survival and progression free survival rates were 87% and 60% respectively. The degree of surgical resection and tumour location were found to affect prognosis. Unfavourable outcomes were observed in these adults with PA compared to those expected for a younger population, suggesting a possible association between age and outcome.

Lynch syndrome (hereditary non‐polyposis colorectal cancer; HNPCC) is an autosomal dominant cancer predisposition syndrome with high penetrance. It is caused by heterozygous germline mutations in one of the DNA mismatch repair (MMR) genes MLH1 , MSH2 , MSH6 , and PMS2 . Carriers are at high‐risk for developing colorectal carcinomas, as well as various extracolonic malignancies. This case report describes a 15 year‐old male with a confirmed germline mutation of MSH2 and early onset anaplastic oligodendroglioma. The patient's tumor showed loss of expression of MSH2 and MSH6 proteins with normal microsatellite stability. The immunohistochemical staining pattern provided strong evidence to support the inclusion of anaplastic oligodendroglioma as part of the spectrum of tumors found in Lynch syndrome. Pediatr Blood Cancer 2013; 60: E13–E15. © 2012 Wiley Periodicals, Inc.

Smoking and diabetes have long been considered risk factors for poor surgical outcome. However, the precise role of smoking and diabetes in the development of poor outcome in lumbar spinal surgery remains ambiguous. This study was undertaken to determine the effects of diabetes and smoking specifically on lumbar spinal surgery outcomes. A retrospective cohort study studied 902 patients who underwent lumbar spinal surgery at the Royal Melbourne Hospital, Australia, between 2001 and 2005, inclusively. Four groups were formed: control; diabetic; positive smoking history; and diabetic and positive smoking history. Multivariate analysis was used to analyse the likelihood of developing complications with a history of diabetes and/or smoking. Our findings indicate that diabetes was significantly associated with an increased risk of developing complications. Patients in the diabetic groups were also significantly older and had a longer length of stay than the other patients (p<0.05 for all significant findings). We conclude that diabetes does increase the risk of poor outcome following lumbar spinal surgery. However, we found no association between a positive smoking history and an increased rate of poor outcome.

Nonsyndromic craniosynostosis (NSC) are a group of congenital disorders sharing premature fusion of one or more of the cranial sutures that restricts and distorts growth of the skull and underlying brain. This study examined the neurodevelopmental sequelae of NSC both prior to and following reconstructive cranial surgery.Sixty-four consecutive referrals with mixed forms of untreated NSC aged 4 to 16 months (M = 8.9, SD = 2.9) comprised the pre-operative cohort. Forty-four of these patients aged 6 to 32 months (M = 21.2, SD = 4.5) underwent post-operative developmental evaluation. Neurodevelopmental function was assessed with the mental (Mental Development Index) and motor (Psychomotor Development Index) scales of the Bayley Scales of Infant Development-2nd edition.Children with untreated NSC displayed significantly lower mental (M = 97.5) and motor (M = 87.7) scores than normative expectations, with the distribution of scores also differing significantly from the normative distribution. Post-operatively, children continued to display significantly lower mental (M = 89.5) and motor (M = 88.0) abilities, with mental abilities falling significantly lower than pre-operative levels. An increased prevalence of severe motor delay was found, and no child displayed accelerated development. Subgroup comparisons revealed no differences in mental or motor skills between the primary diagnostic subtypes (sagittal and metopic synostosis) both prior to and following corrective surgery.NSC is associated with an increased incidence of developmental delay in both treated and untreated conditions. Timing of surgery appears unrelated to developmental outcome.

Tenosynovial giant cell tumours (TGT) are benign tumours that arise in the synovial lining of joints, tendon sheaths and bursae. Tumours arising from the vertebral column are extremely rare, with few cases reported. In this article, we describe an unusual case of an extra-articular TGT of the brachial plexus, arising from the synovium of the vertebral facet joint. To our knowledge and after a review of the literature, this is the first patient with a TGT involving the brachial plexus. The clinical, radiological and histological features of this tumour are described together with a brief discussion of management options.

Multidisciplinary care involving plastic surgery and neurosurgery is generally accepted as optimal to manage craniosynostosis to avoid complications and to identify patients at risk. We conducted a retrospective 30-year review of craniosynostosis surgery at a single major craniofacial institute to establish the rate and predictors of complications. Medical records of 796 consecutive patients who underwent primary surgery for craniosynostosis from 1981 to 2010 at our institute were analyzed for complications. Complications were defined as intraoperative and postoperative adverse events requiring changed management. Reoperation was defined as a repeat transcranial procedure. Multivariate logistic regression was used to identify predictors for complications or revision. Across the years, the procedures evolved from technically simple to complex, which increased complications but better outcomes. Complications occurred in 111 patients (14%), and 33 (5.4%) needed major revision. Multivariate analysis identified multisuture and syndromic craniosynostosis, more recent surgeries, younger age (<9 months), spring-assisted cranioplasty, longer surgery, and greater transfusion as predictors of complications. Patients with syndromic and multisutural craniosynostosis and those operated on younger than 9 months had increased risk of major revision surgery for regression to phenotype. Our experience over 30 years indicates that pediatric transcranial craniosynostosis surgery can be safely carried out in our tertiary referral center. There were no deaths from primary surgery, and complication and reoperation rates mirror those of other published studies. Syndromic and complex craniosynostosis predicted both complications and need for major revision. Spring cranioplasty was associated with higher complications. Overall results support a recommended age for craniosynostosis surgery between 9 and 12 months.

Recent studies in Europe and the United States report increased incidence of metopic synostosis. Whether a similar trend had occurred in Australia remains unknown. This research aimed to determine changes in incidence and subtypes of craniosynostosis in Victoria and to identify perinatal risk factors. A retrospective audit of patients (n = 522) presenting to the Royal Children’s Hospital in Melbourne with nonsyndromic craniosynostosis from 1982 to 2008 was undertaken. Perinatal data were sourced from the Victorian Perinatal Data Collection. The changes in incidence of craniosynostosis subtypes were calculated based on Poisson regression, and risk factors for craniosynostosis and subtypes were analyzed by univariate logistic regression analysis. The prevalence of nonsyndromic craniosynostosis was 3.1 in 10,000 live births in Victoria. On average, the incidence of nonsyndromic craniosynostosis increased by 2.5% per year among Victorian live births. Over 25 years, metopic synostosis incidence significantly increased by 7.1% per year in the population of Victoria, outpacing other subtypes. The risk factors for metopic synostosis include being male, multiple births (ie, twins), preterm gestation, low birth weight, high maternal age, and emergency cesarean birth. This study revealed a true increase in incidence of metopic synostosis in Victoria, which could be a result of increased frequency of multiple births, preterm gestation, low birth weight, and high maternal age in the Victorian population from 1982 to 2008. The incidence of other nonsyndromic craniosynostoses, which include sagittal, unicoronal, and multisutural craniosynostoses, however, has remained unchanged.

Pilocytic astrocytoma, the most common glioma of childhood, is considered a clinically benign tumour. Malignant transformation of this tumour is rare and thought to occur almost exclusively in the setting of prior radiotherapy. We describe a patient with mixed pilocytic and gemistocytic astrocytoma which transformed into a glioblastoma multiforme, leading to rapid deterioration and death of the patient, without prior radiotherapy.

Gliomatosis cerebri (GC) is an uncommon brain tumour defined as a diffuse neoplastic glial cell infiltration of the brain, involving more than two cerebral lobes and, occasionally, the infratentorial structures or the spinal cord. GC of the oligodendroglial phenotype is extremely rare, especially in the paediatric setting. We describe an unusual case of oligodendroglial GC diagnosed in a 16-year-old boy with Ollier disease. To our knowledge this is the first case of GC reported in a child with Ollier disease.

BACKGROUND:A new method of total calvarial remodeling for correcting significant scaphocephaly is described, and experience with the first 30 consecutive patients is presented.METHODS:Thirty consecutive patients (22 boys and eight girls) with moderate to severe scaphocephaly who underwent total calvarial remodeling using the Melbourne technique were analyzed retrospectively. Mean age at surgery was 7.5 months (range, 4 to 18 months). All had significant frontal and occipital deformities, bitemporal narrowing, a low cranial index, an anteriorly located vertex, and a narrow posteroinferiorly sloping posterior cranium. Clinical photographs, computed tomographic imaging, and cranial index were evaluated preoperatively and postoperatively. A sufficient follow-up period in 17 patients enabled the measurement of changes in cranial indices.RESULTS:A dramatic improvement in head shape was confirmed subjectively by clinical examination and photographs and, in 17 patients, objectively by analyses of the cranial indices. In these 17 patients, mean preoperative cranial index was 64.6 percent preoperatively (range, 56 to 69.3 percent) and increased to a mean of 77.5 percent postoperatively (range, 72 to 81 percent). The mean increase in cranial index was 12.9 percent (range, 9.5 to 19 percent). Among the 30 patients, overall complications were major in one patient (3.3 percent) (presumed air embolus) and minor in three (10 percent).CONCLUSIONS:The Melbourne technique of total vault remodeling consistently achieves a virtually normal head shape. After analysis of the first 30 cases, the authors recommend this as their technique of choice for severe scaphocephaly when the full constellation of deformities is present.

Trauma remains the commonest cause of morbidity and mortality in children. The causes are varied and may range from motorized vehicle accidents to simple falls. With increasing age and motor development, another modality of injury has arisen from childhood play on pushbikes and tricycles. Legislation enforced by various governmental departments has led to the compulsory use of helmets in bicycle riding. From experiences overseas, this simple act has led to a reduction in bicycle trauma mortalities in childhood.1,2 A disturbing new trend in recent years has been the anecdotal increase in childhood presentation of trauma and neurotrauma resulting from all-terrain vehicle (ATV) accidents. These vehicles, unlike two-wheeled bikes, are often less ‘stable’ when placed in awkward positions. A two-wheeled bike has a gyroscopic effect which tends to maintain its stability around corners or inclines. This does not hold true in ATVs. In Australia, as yet, there has been no push to legislate and guide the use of ATVs. As these units are not strictly registered motor vehicles, much in keeping with pushbikes, the community still relies on the voluntary control of their usage. This becomes even more concerning when one considers that there is no strict limitation on children of any age group riding on ATVs. From a preliminary review of data at the Royal Children’s Hospital, Melbourne, Victoria, Australia, over the past 6 years dating from 2000, there has been a trend of increasing presentations of bicycleand motorbike-related trauma in children (Table 1). Of interest, there has been a twofold increase in ATV-related trauma over the past 2 years. A smaller increase in presentation of trauma-related injuries from other biking accidents is also evident. Why has there been such a rise in these cases, not only in Australia, but around the world?1–3 Factors involved are many and varied, and these increases cannot be attributed to any single issue. When assessing the reasons for this increase, one must consider the usage of these vehicles in our community. Bicycle riding remains a popular and low-cost mode of transportation. With the varied economic and environmental factors confronting our society, there remains no better way of travelling from point A to point B at a minimum cost. Furthermore, the exercise benefits of cycling, especially in the young, cannot be understated. As our society moves towards a healthier way of living, it is vital to maintain bicycle riding within the group of activities considered beneficial to achieving this goal. The proportionate increase in bicycle trauma in childhood is small and may simply reflect an overall increase in uptake of this type of activity by the community as a whole or purely from an increasing population. To maintain the safety of our children, strict adherence to safety laws must be observed. As earlier stated, the use of bike helmets should be urged for everyone riding a bicycle. Education on safety and safe bicycle riding should begin at home and carried through to school, local communities and the media. Numerous government-funded media blitzes relating to drug use and motor vehicle safety have been presented. A similarly passionate and wide-ranging campaign should be implemented in dealing with bicycle safety. Several local governmental bodies have created bike tracks and parks specifically for children. This approach should be applauded and implemented more broadly. What, then, can we make of the increase in ATV trauma in children? The alarming factor is not the doubling of the cases presenting but the presentation of very young children after ATV trauma. This parallels the experience from North American groups that have found similar increases in ATV and even snowmobile accident rates in children of this age.3 Are environmental factors playing a role in this instance? Are drought conditions in this country resulting in more serious injuries in children on ATVs as the events are occurring on drier and rougher grounds? Are children forced by circumstances to ride on ATVs as that is the only mode of affordable transport in certain regions? These questions cannot be answered with any certainty. Likewise, the reasons behind why there has been an increase in ATV accidents in children as young as 2 and 3 years of age remain unclear (Table 2). To arrest this alarming progression, perhaps legislation to restrict the age at which young children can ride on ATVs may be considered. The children injured by these means sometimes have outcomes which are extremely devastating. Bicycle, tricycle and ATVs remain a transport device and a plaything for many children. The safety of our young remains in the hands of the governing authorities. There has been an increase in bicycle injury presentation in our community. There has been a doubling of presentation of ATV-related trauma and neurotrauma. These trends must be stopped, and legislation and education remain the ideal vehicles to achieve this goal.

Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture compressing the right transverse sinus. Papilledema and diplopia resolved following surgical elevation of the bone fragment. Computer tomography or magnetic resonance venography are indicated in children presenting with isolated intracranial hypertension following head injury to exclude cerebral venous sinus compression secondary to skull fracture.

Craniofacial surgery is currently firmly established as a subspecialty, and operations previously regarded as exceptional are considered routine. A range of complications still can occur, however, from minor to devastating in nature. As transcranial surgery is more frequently performed, craniofacial units must take steps to prevent such problems, recognize them early, and treat them expeditiously. Infection and uncontrollable bleeding are the two most feared complications. Craniofacial teams should maintain accurate audit data on morbidity and mortality and clinical outcomes to monitor complication rates. This article reviews the literature on craniofacial complications and makes recommendations for their avoidance and treatment based on the 23-year experience with transcranial pediatric surgery at the Royal Children's Hospital, Melbourne, Australia.

We report a case of an intracavernous abducens nerve schwannoma presenting in a 19 year old male of Mediterranean origin. This is only the second report of an abducens nerve schwannoma located entirely within the cavernous sinus. The lesion resulted in a progressive diplopia and focal abducens palsy. The clinical, radiological and pathological features are presented. A literature search has identified only four other abducens nerve schwannomas arising completely or partly within the cavernous sinus. We review these cases and aspects of other ocular cranial nerve schwannomas.