Late onset AMACR deficiency with metabolic stroke-like episodes and seizures.

Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder causing pristanic acid accumulation. Only 16 cases have been described so far. A female in her seventh decade presented with episodes of dysphasia, headache and sensory disturbance inconsistent with migraine, epilepsy or transient ischaemic attack. An MRI demonstrated unusual changes in the pons, red nuclei, thalami and white matter. Mitochondrial disease was suspected but detailed testing was negative. After eight years of symptoms, she developed a febrile encephalopathy with hemispheric dysfunction, focal convulsive seizures and coma. Her condition stabilised after one month. Lacosamide was continued for seizure prevention. The diagnosis remained elusive until whole genome sequencing revealed AMACR deficiency. Pristanic acid levels were highly elevated and dietary modification was recommended. Genetic peroxisomal disorders can present in older age; our patient is the oldest in the AMACR deficiency literature. Novel features in our case include central apnoea, dystonia and rapid eye movement behaviour disorder.

Tolosa-Hunt syndrome presenting with features of a trigeminal autonomic cephalalgias and pituitary enlargement.

Tolosa-Hunt syndrome is understood as a steroid-responsive, relapsing-remitting, unilateral headache disorder associated with ipsilateral cranial neuropathies, of a probable granulomatous aetiology. The diagnosis is made clinically from the history and examination, supported by appropriate imaging. Here the authors report a case of Tolosa-Hunt syndrome with a headache phenotype mimicking a trigeminal autonomic cephalalgias (hemicrania continua), and serial MRI studies showing a stable enlarged pituitary. Due to her initial lack of clinical signs, she was diagnosed with chronic migraine, revised to hemicrania continua based on indomethacin response, then revised back to chronic migraine. Her final diagnosis was achieved after she developed a left cavernous sinus syndrome 4 years into her disease course. This case shows that Tolosa-Hunt syndrome may present with a non-side-locked headache and delayed development of clinical signs. Clinicians should also maintain a high degree of suspicion when faced with incidental MRI findings.

Pre-surgical mapping of eloquent cortex for paediatric epilepsy surgery candidates: Evidence from a review of advanced functional neuroimaging.

PURPOSE: A review of all published evidence for mapping eloquent (motor, language and memory) cortex using advanced functional neuroimaging (functional magnetic resonance imaging [fMRI] and magnetoencephalography [MEG]) for paediatric epilepsy surgery candidates has not been conducted previously. Research in this area has predominantly been in adult populations and applicability of these techniques to paediatric populations is less established. METHODS: A review was performed using an advanced systematic search and retrieval of all published papers examining the use of functional neuroimaging for paediatric epilepsy surgery candidates. RESULTS: Of the 2724 papers retrieved, 34 met the inclusion criteria. Total paediatric participants identified were 353 with an age range of 5 months-19 years. Sample sizes and comparisons with alternative investigations to validate techniques are small and variable paradigms are used. Sensitivity 0.72 (95% CI 0.52-0.86) and specificity 0.60 (95% CI 0.35-0.92) values with a Positive Predictive Value of 74% (95% CI 61-87) and a Negative Predictive Value of 65% (95% CI 52-78) for fMRI language lateralisation with validation, were obtained. Retrieved studies indicate evidence that both fMRI and MEG are able to provide information lateralising and localising motor and language functions. CONCLUSIONS: A striking finding of the review is the paucity of studies (n=34) focusing on the paediatric epilepsy surgery population. For children, it remains unclear which language and memory paradigms produce optimal activation and how these should be quantified in a statistically robust manner. Consensus needs to be achieved for statistical analyses and the uniformity and yield of language, motor and memory paradigms. Larger scale studies are required to produce patient series data which clinicians may refer to interpret results objectively. If functional imaging techniques are to be the viable alternative for pre-surgical mapping of eloquent cortex for children, paradigms and analyses demonstrating concordance with independent measures must be developed.

Is the Scoutreach Initiative of Boy Scouts of America Linked to Character Development among Socioeconomically, Racially, and Ethnically Diverse Youth?: Initial Explorations.

Youth development programs represent key tools in the work of youth-serving practitioners and researchers who strive to promote character development and other attributes of youth thriving, particularly among youth who may confront structural and social challenges related to their racial, ethnic, and/or economic backgrounds. This article conducts secondary analyses of two previously reported studies of a relatively recent innovation in Boy Scouts of America (BSA) developed for youth from low-income communities, Scoutreach. Our goal is to provide descriptive and admittedly preliminary exploratory information about whether these data sets-one involving a sample of 266 youth of color from socioeconomically impoverished communities in Philadelphia (M age = 10.54 years, SD = 1.58 years) and the other involving a pilot investigation of 32 youth of color from similar socioeconomic backgrounds in Boston (M age = 9.97 years, SD = 2.46 years)-provide evidence for a link between program participation and a key indicator of positive development; that is, character development. Across the two data sets, quantitative and qualitative evidence suggested the presence of character development among Scoutreach participants. Limitations of both studies are discussed and implications for future longitudinal research are presented. We suggest that future longitudinal research should test the hypothesis that emotional engagement is key to creating the conditions wherein Scoutreach participation is linked to character development.

Imaging assessment of traumatic brain injury.

Traumatic brain injury (TBI) constitutes injury that occurs to the brain as a result of trauma. It should be appreciated as a heterogeneous, dynamic pathophysiological process that starts from the moment of impact and continues over time with sequelae potentially seen many years after the initial event. Primary traumatic brain lesions that may occur at the moment of impact include contusions, haematomas, parenchymal fractures and diffuse axonal injury. The presence of extra-axial intracranial lesions such as epidural and subdural haematomas and subarachnoid haemorrhage must be anticipated as they may contribute greatly to secondary brain insult by provoking brain herniation syndromes, cranial nerve deficits, oedema and ischaemia and infarction. Imaging is fundamental to the management of patients with TBI. CT remains the imaging modality of choice for initial assessment due to its ease of access, rapid acquisition and for its sensitivity for detection of acute haemorrhagic lesions for surgical intervention. MRI is typically reserved for the detection of lesions that may explain clinical symptoms that remain unresolved despite initial CT. This is especially apparent in the setting of diffuse axonal injury, which is poorly discerned on CT. Use of particular MRI sequences may increase the sensitivity of detecting such lesions: diffusion-weighted imaging defining acute infarction, susceptibility-weighted imaging affording exquisite data on microhaemorrhage. Additional advanced MRI techniques such as diffusion tensor imaging and functional MRI may provide important information regarding coexistent structural and functional brain damage. Gaining robust prognostic information for patients following TBI remains a challenge. Advanced MRI sequences are showing potential for biomarkers of disease, but this largely remains at the research level. Various global collaborative research groups have been established in an effort to combine imaging data with clinical and epidemiological information to provide much needed evidence for improvement in the characterisation and classification of TBI and in the identity of the most effective clinical care for this patient cohort. However, analysis of collaborative imaging data is challenging: the diverse spectrum of image acquisition and postprocessing limits reproducibility, and there is a requirement for a robust quality assurance initiative. Future clinical use of advanced neuroimaging should ensure standardised approaches to image acquisition and analysis, which can be used at the individual level, with the expectation that future neuroimaging advances, personalised to the patient, may improve prognostic accuracy and facilitate the development of new therapies.

Important non-parental adults and positive youth development across mid- to late-adolescence: the moderating effect of parenting profiles.

Both parents and important non-parental adults have influential roles in promoting positive youth development (PYD). Little research, however, has examined the simultaneous effects of both parents and important non-parental adults for PYD. We assessed the relationships among youth-reported parenting profiles and important non-parental adult relationships in predicting the Five Cs of PYD (competence, confidence, connection, character, and caring) in four cross-sectional waves of data from the 4-H Study of PYD (Grade 9: N = 975, 61.1% female; Grade 10: N = 1,855, 63.4% female; Grade 11: N = 983, 67.9% female; Grade 12: N = 703, 69.3% female). The results indicated the existence of latent profiles of youth-reported parenting styles based on maternal warmth, parental school involvement, and parental monitoring that were consistent with previously identified profiles (authoritative, authoritarian, permissive, and uninvolved) as well as reflecting several novel profiles (highly involved, integrative, school-focused, controlling). Parenting profile membership predicted mean differences in the Five Cs at each wave, and also moderated the relationships between the presence of an important non-parental adult and the Five Cs. In general, authoritative and highly involved parenting predicted higher levels of PYD and a higher likelihood of being connected to an important non-parental adult. We discuss the implications of these findings for future research on adult influences of youth development and for programs that involve adults in attempts to promote PYD.

Academic achievement in the high school years: the changing role of school engagement.

School engagement is an important theoretical and practical cornerstone to the promotion of academic accomplishments. This article used a tripartite-behavioral, emotional, and cognitive-model of school engagement to assess the relationship between school engagement and academic success among high school students, and to determine whether a reciprocal relationship exists between these constructs. Data were derived from 710 youth (69% female) who took part in Waves 6 through 8 (Grades 10 through 12) of the 4-H study of positive youth development. Longitudinal confirmatory factor analyses confirmed the invariance of the tripartite model of school engagement. Results of a structural equation model showed that the components of school engagement and academic achievement were mutually predictive and that these predictions varied from grade to grade. Future possibilities for evaluating the relationship between school engagement and academic achievement, as well as the implications for educational policy and practice, are discussed.

Comparison of endoscopic and microscopic trans-sphenoidal pituitary surgery: early results in a single centre.

INTRODUCTION: Pituitary surgery has seen a recent shift from a microscopic to an endoscopic trans-sphenoidal approach. We present our early experience with endoscopic surgery and compare the outcome with our recent microscopic experience. METHODS: From January 2008 until present time, 80 consecutive patients underwent trans-sphenoidal pituitary surgery in our institution. Until September 2009, all patients had a microscopic trans-septal approach. After this time, the patients underwent endoscopic trans-sphenoidal surgery. All patients underwent pre- and post-operative MRI and full endocrinological evaluation. Data was collected prospectively including tumour volume, endocrine function, visual function, length of stay and complications. RESULTS: There were 40 patients in each group. In the microscopic group, there were 26 non-functioning tumours and 14 functioning tumours. In the endoscopic group, there were 24 non-functioning and 16 functioning tumours. There were significantly better results in terms of tumour resection (p = 0.002) and remission (p = 0.018) in the endoscopic group. In this group there was also a lower incidence of CSF leaks and a shorter length of stay for secreting tumours (p = 0.005). 1 patient in the endoscopic group died at day 43 post-operatively, having initially presented in a poor clinical state with pituitary apoplexy. CONCLUSION: Microscopic trans-sphenoidal surgery remains the benchmark for future surgical techniques. Our early results suggest that endoscopic trans-sphenoidal surgery provides favourable results in both tumour resection and control of secreting tumours in comparison with microscopic surgery. Further longer-term evaluation is required to ensure the outcome of endoscopic surgery.

Imaging in acute ischaemic stroke: essential for modern stroke care.

Stroke is the second most common cause of death worldwide and the third most common in the UK. 'Time is brain' in ischaemic stroke; early reperfusion has been shown to lead to improved clinical outcomes, yet the majority of patients with acute stroke do not attend in time for thrombolysis as it is currently licensed, hence the interest in trials extending the therapeutic window. Defining the ischaemic penumbra is of crucial importance in choosing the appropriate patients for thrombolytic therapy who attend outside the optimal therapeutic window. Integrated stroke imaging, including demonstration of potentially salvageable tissue with either MR perfusion/diffusion studies or CT perfusion, is increasingly likely to play a central role in future management strategies and widening of the potential therapeutic window. This review highlights the basic imaging findings of acute stroke and discusses the role of advanced CT and MR techniques as well as options for vascular imaging.

Imaging in childhood scoliosis: a pictorial review.

Childhood scoliosis is a common clinical entity with a number of different causes. In the majority of cases, the scoliosis is idiopathic, but it may be the manifestation of an occult spinal pathology. The clinical history and examination may elicit certain worrying features such as pain, neurological symptoms or an atypical curve pattern. These findings should prompt advanced imaging, as early and accurate detection of an underlying cause allows optimal planning and timing of surgery and helps reduce associated risks. The most common occult pathologies detected by advanced imaging are Arnold Chiari malformations, syringohydromyelia and closed spinal dysraphism such as diastematomyelia. Advanced imaging techniques, in particular multiplanar MRI, are also increasingly requested in children with known congenital scoliosis associated with spinal dysraphism and developmental causes of scoliosis such as neurofibromatosis and Klippel-Feil syndrome, as it allows superior delineation of the spinal column without the radiation risk. This review aims to examine the different imaging techniques currently used in the evaluation of scoliosis and provide a pictorial summary of the more common causes and associations.

Spontaneous abscess of the lumbar spine presenting as subacute back pain.

A 52-year-old lady was admitted with back pain, fever and reduced sensation in her left leg. Soon after admission she developed acute urinary retention. She underwent urgent MRI of the spine which showed an epidural abscess compressing the thecal sac which was treated with neurosurgical decompression and intravenous/oral antibiotics. Cultures from theatre grew Staphylococcus aureus sensitive to flucloxacillin. After 12 weeks of intravenous/oral antibiotics, she was discharged without any neurological disability.

Bouveret's Syndrome: a Case Report.

Bouveret's syndrome is a well known clinical entity; its incidence however, is uncommon. An unusual complication of cholelithiasis, Bouveret's syndrome should be considered in an elderly patient presenting with acute gastric outlet obstruction.We describe a case of an elderly female patient presenting with acute gastric outlet obstruction secondary to a massive gallstone and discuss the imaging appearances and therapeutic options for this rare condition.

Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.

X-linked cerebral adrenoleukodystrophy is an aggressive, rapidly progressive disorder resulting in considerable morbidity and, left untreated, mortality. Patients typically present before the age of 10 years with progressive symptomatology including ataxia, spasticity, and focal neurological deficits. Current therapeutic options are limited, the treatment of choice being haemopoietic stem cell transplantation (HSCT). Intervention is beneficial to those children with early disease and characteristic magnetic resonance (MR) imaging changes. Developments in MR imaging have led to the incorporation of MR spectroscopy in the assessment tools; however, it is yet to be included in stratified assessment tools to guide treatment choice. Furthermore, there remains a paucity of outcome data on MR spectroscopy changes following HSCT. We describe our experience in two males with confirmed cerebral adrenoleukodystrophy treated, at the mean age of 5 years 6 months, with HSCT and report the pronounced spectroscopic changes observed following treatment. Both children, observed for a minimum period of 14 months following treatment, demonstrate complete reversal in previously deteriorating spectroscopy with marked increase in N-acetyl-aspartate (NAA)/choline (Cho) ratios and reduction in Cho/creatine (Cr) ratios following HSCT treatment with concomitant stabilization of clinical status.