Overall, pediatric high-grade glioma (pHGG) has a poor prognosis, in part due to the lack of understanding of the underlying biology. High-resolution 244 K oligo array comparative genomic hybridization (CGH) was used to analyze DNA from 38 formalin-fixed paraffin-embedded predominantly pretreatment pHGG samples, including 13 diffuse intrinsic pontine gliomas (DIPGs). The patterns of gains and losses were distinct from those seen in HGG arising in adults. In particular, we found 1q gain in up to 27% of our cohort compared with 9% reported in adults. A total of 13% had a balanced genetic profile with no large-scale copy number alterations. Homozygous loss at 8p12 was seen in 6 of 38 (16%) cases of pHGG. This novel deletion, which includes the ADAM3A gene, was confirmed by quantitative real-time PCR (qPCR). Loss of CDKN2A/CDKN2B in 4 of 38 (10%) samples by oligo array CGH was confirmed by fluorescent in situ hybridization on tissue microarrays and was restricted to supratentorial tumors. Only ∼50% of supratentorial tumors were positive for CDKN2B expression by immunohistochemistry (IHC), while ∼75% of infratentorial tumors were positive for CDKN2B expression (P = 0.03). Amplification of the 4q11-13 region was detected in 8% of cases and included PDGFRA and KIT, and subsequent qPCR analysis was consistent with the amplification of PDGFRA. MYCN amplification was seen in 5% of samples being significantly associated with anaplastic astrocytomas (P= 0.03). Overall, DIPG shared similar spectrum of changes to supratentorial HGG with some notable differences, including high-frequency loss of 17p and 14q and lack of CDKN2A/CDKN2B deletion. Informative genetic data providing insight into the underlying biology and potential therapeutic possibilities can be generated from archival tissue and typically small biopsies from DIPG. Our findings highlight the importance of obtaining pretreatment samples.

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin-covered lumbosacral spina bifida. An arachnoid-lined meningocele, continuous with the spinal subarachnoid space, is traversed by the hydromyelic cord. Clinically, this presents with a skin-covered lumbosacral mass, but often no neurological deficit is present. We present a case of terminal myelocystocele in a child born without deficit and without an obvious back mass. Diagnosis was delayed until sphincter disturbance and lower limb inequalities developed. We discuss the presentation, imaging and operative findings in this case.

The development of a national donation after circulatory death program has had minimal impact on the number of donation after brain death donors. The number of donation after brain death donors could increase with changes in end-of-life care practices to allow the evolution of brain death and increasing the availability of ancillary testing.

The incidence of spontaneous intracranial haemorrhage has increased markedly in line with the increased use of oral anticoagulant agents. Recent guidelines for reversal of this acquired coagulation defect in an emergency have been established, but they are not adhered to in all centres. Our unit is referred between 20 and 60 patients per year (1994-1999) who are anticoagulated and require urgent neurosurgical intervention. In order to investigate this, we performed a prospective study using prothrombin complex concentrate (PCC). PCC was given to the first six patients with intracranial haemorrhage admitted to the neurosurgical unit requiring urgent correction of anticoagulation (Group 1) and compared with patients receiving standard treatment with fresh frozen plasma and vitamin K (Group 2). Mean International Normalised Ratios of Group 1 were 4.86 pretreatment and 1.32 posttreatment, and of Group 2 were 5.32 and 2.30, respectively. Results for complete reversal and reversal time were significant for PCC with p < 0.001. We recommend PCC for rapid and effective reversal of warfarin in life-threatening neurosurgical emergencies.

This case demonstrates that fetal MRI is a powerful tool in the investigation of in utero neurovascular malformations. A genetic mutation was identified, but this was of uncertain significance.

Arcanobacterium haemolyticum is an organism that commonly causes pharyngitis and wound infections. It does not usually cause systemic invasive disease. The organism presents a difficult diagnostic problem because the Clinical Microbiology laboratory has a propensity to view them as diphtheroid organisms of the Corynebacterium species, thus contaminants or normal flora. We describe a case of a 21-year-old female who had endocarditis with cerebral emboli due to Arcanobacterium haemolyticum. This rare condition is associated with significant mortality and to the best of our knowledge; this is the first successfully treated case of A. haemolyticum endocarditis complicated by embolic phenomenon.

Neuroendoscopic third ventriculostomy (NTV) has superseded shunting as the treatment of choice in non-communicating hydrocephalus. Intracranial developmental anomalies have been considered to be relative contraindications for this procedure. We present one patient with a Dandy-Walker malformation and another with septo-optic dysplasia who presented with hydrocephalus. An NTV was performed successfully in both patients using a flexible neuroendoscope and utilising transendoscopic Doppler ultrasound to ensure a safe target area for ventriculostomy.

The diagnosis and management of diffuse brain stem gliomas (DBSGs) remain a challenging problem for the neurosurgeon and neuro-oncologist. Opposing views on the necessity for biopsy have emerged over the last decade. Open biopsy, with its prohibitive morbidity and mortality, has been replaced by stereotactically guided biopsy, with markedly reduced risk. This has been paralleled by improvements in imaging techniques and diagnostic accuracy, which has created reluctance to endorse diagnostic biopsies coupled with the potential of nonrepresentative samples from a heterogeneous tumour mass. For typical DBSGs biopsy is now accepted as unnecessary. We performed a retrospective analysis of radiologically and histologically proven DBSGs in 18 children to assess both morbidity and reliability of our stereotactically guided biopsy procedure.