The (extended) achondroplasia foramen magnum score has good observer reliability.

BACKGROUND: Achondroplasia is the most common skeletal dysplasia. A significant complication is foramen magnum stenosis. When severe, compression of the spinal cord may result in sleep apnea, sudden respiratory arrest and death. To avoid complications, surgical decompression of the craniocervical junction is offered in at-risk cases. However, practice varies among centres. To standardize magnetic resonance (MR) reporting, the achondroplasia foramen magnum score was recently developed. The reliability of the score has not been assessed. OBJECTIVE: To assess the interobserver reliability of the achondroplasia foramen magnum score. MATERIALS AND METHODS: Base of skull imaging of children with achondroplasia under the care of Sheffield Children's Hospital was retrospectively and independently reviewed by four observers using the achondroplasia foramen magnum score. Two-way random-effects intraclass coefficient (ICC) was used to assess inter- and intra-observer reliability. RESULTS: Forty-nine eligible cases and five controls were included. Of these, 10 were scored normal, 17 had a median score of 1 (mild narrowing), 11 had a median score of 2 (effacement of cerebral spinal fluid), 10 had a score of 3 (compression of cord) and 6 had a median score of 4 (cord myelopathic change). Interobserver ICC was 0.72 (95% confidence interval = 0.62-0.81). Intra-observer ICC ranged from 0.60 to 0.86. Reasons for reader disagreement included flow void artefact, subtle T2 cord signal and myelopathic T2 cord change disproportionate to canal narrowing. CONCLUSION: The achondroplasia foramen magnum score has good interobserver reliability. Imaging features leading to interobserver disagreement have been identified. Further research is required to prospectively validate the score against clinical outcomes.

Pituitary apoplexy secondary to metastatic breast carcinoma into a gonadotroph cell adenoma of the pituitary.

A 65 year-old lady with metastatic breast cancer presented with pituitary apoplexy. Following surgery, histopathology confirmed metastatic breast carcinoma into a gonadotroph cell adenoma of the pituitary. Tumours that metastasise to a normal pituitary gland are unusual. More so, such neoplasm-to-neoplasm metastasis is extremely rare. This is, as far as we are aware, the first description of a metastasis into a gonadotroph cell pituitary adenoma presenting as apoplexy.

Pituitary apoplexy: how to define safe boundaries of conservative management? Early and long-term outcomes from a single UK tertiary neurosurgical unit.

OBJECTIVES: (1) Describe presentation, management and outcomes of a single-centre series of patients with pituitary apoplexy. (2) Compare early and long-term outcomes of conservative and surgical management. (3) Identify predictive factors for visual recovery. METHODS: Retrospective analysis of patients acutely managed by Sheffield's Neurosurgery over a 9-years period. Outcome comparison was made between 2 groups ('conservative' versus 'emergency') at early FU and 3 groups ('conservative' versus 'elective' versus 'emergency') at long-term FU. RESULTS: Data from 30 patients (M:F = 2.8:1; mean age: 54 years; median FU: 31.5 months) were collected. 86,7% patients presented with visual disturbances (70% acuity, 50% field, 50% diploplia). 10 (33%) patients underwent emergency surgery and further 8 underwent delayed elective surgery.At early FU, resolution rates of VA (33% versus 38%), VF (40% versus 50%) and CN deficits (71% versus 40%) were not significantly different between groups.At long-term FU, resolution of VA (80% versus 20% versus 75%) and CN deficits (67% versus 50% versus 80%) was not significantly different between groups. Most patients who underwent surgery presented with severe VA deficit (20% versus 40% versus 63%) but severity of initial deficit wasn't correlated with long-term resolution.VF recovery rates showed significant difference between groups (p = 0.027): 67% versus 0% versus 88%.Endocrine outcomes were generally poor, regardless of the management strategy.Regarding possible predictive factors, age and tumour size correlated with visual outcomes. Especially in patients treated conservatively in the acute phase, no cases of complete resolution of VA or VF deficit were recorded when tumour was higher than 35 mm. CONCLUSIONS: Good results are possible with conservative management in selected cases. Emergency surgery provides better visual outcomes. Decision-making process should be tailored to every single patient. We believe that a tumour vertical diameter >35 mm should tip the balance in favour of surgical management in presence of visual deficit.

Avoiding skull radiographs in infants with suspected inflicted injury who also undergo head CT: "a no-brainer?"

OBJECTIVES: To assess whether head CT with 3D reconstruction can replace skull radiographs (SXR) in the imaging investigation of suspected physical abuse (SPA)/abusive head trauma (AHT). METHODS: PACS was interrogated for antemortem skeletal surveys performed for SPA, patients younger than 2 years, SXR and CT performed within 4 days of each other. Paired SXR and CT were independently reviewed. One reviewer analysed CT without and (3 months later) with 3D reconstructions. SXR and CT expert consensus review formed the gold standard. Observer reliability was calculated. RESULTS: A total of 104 SXR/CT examination pairs were identified, mean age 6.75 months (range 4 days to 2 years); 21 (20%) had skull fractures; two fractures on CT were missed on SXR. There were no fractures on SXR that were not seen on CT. For SXR and CT, respectively: PPV reviewer 1, 95% confidence interval (CI) 48-82% and 85-100%; reviewer 2, 67-98% and 82-100%; and NPV reviewer 1, 95%, CI 88-98% and 96-100%; reviewer 2, 88-97% and 88-98%. Inter- and intra-observer reliability were respectively the following: SXR, excellent (kappa = 0.831) and good (kappa = 0.694); CT, excellent (kappa = 0.831) and perfect (kappa = 1). All results were statistically significant (p < 0.001). CONCLUSIONS: CT has greater diagnostic accuracy than SXR in detecting skull fractures which is increased on concurrent review of 3D reconstructions and should be performed in every case of SPA/AHT. SXR does not add further diagnostic information and can be omitted from the skeletal survey when CT with 3D reconstruction is going to be, or has been, performed. KEY POINTS: • Head CT with 3D reconstruction is more sensitive and specific for the diagnosis of skull fractures. • Skull radiographs can be safely omitted from the initial skeletal survey performed for suspected physical abuse when head CT with 3D reconstruction is going to be, or has been, performed.

Neurologic Deficits in Patients With Newly Diagnosed Celiac Disease Are Frequent and Linked With Autoimmunity to Transglutaminase 6.

BACKGROUND & AIMS: Celiac disease is an autoimmune disorder induced by ingestion of gluten that affects 1% of the population and is characterized by gastrointestinal symptoms, weight loss, and anemia. We evaluated the presence of neurologic deficits and investigated whether the presence of antibodies to Transglutaminase 6 (TG6) increases the risk of neurologic defects in patients with a new diagnosis of celiac disease. METHODS: We performed a prospective cohort study at a secondary-care gastroenterology center of 100 consecutive patients who received a new diagnosis of celiac disease based on gastroscopy and duodenal biopsy. We collected data on neurologic history, and patients were evaluated in a clinical examination along with magnetic resonance imaging of the brain, magnetic resonance (MR) spectroscopy of the cerebellum, and measurements of antibodies against TG6 in serum samples. The first 52 patients recruited underwent repeat MR spectroscopy at 1 year after a gluten-free diet (GFD). The primary aim was to establish if detection of antibodies against TG6 can be used to identify patients with celiac disease and neurologic dysfunction. RESULTS: Gait instability was reported in 24% of the patients, persisting sensory symptoms in 12%, and frequent headaches in 42%. Gait ataxia was found in 29% of patients, nystagmus in 11%, and distal sensory loss in 10%. Sixty percent of patients had abnormal results from magnetic resonance imaging, 47% had abnormal results from MR spectroscopy of the cerebellum, and 25% had brain white matter lesions beyond that expected for their age group. Antibodies against TG6 were detected in serum samples from 40% of patients-these patients had significant atrophy of subcortical brain regions compared with patients without TG6 autoantibodies. In patients with abnormal results from MR spectroscopy of the cerebellum, those on the GFD had improvements detected in the repeat MR spectroscopy 1 year later. CONCLUSIONS: In a prospective cohort study of patients with a new diagnosis of celiac disease at a gastroenterology clinic, neurologic deficits were common and 40% had circulating antibodies against TG6. We observed a significant reduction in volume of specific brain regions in patients with TG6 autoantibodies, providing evidence for a link between autoimmunity to TG6 and brain atrophy in patients with celiac disease. There is a need for early diagnosis, increased awareness of the neurologic manifestations among clinicians, and reinforcement of adherence to a strict GFD by patients to avoid permanent neurologic disability.

Added value of arterial spin labeling magnetic resonance imaging in pediatric neuroradiology: pitfalls and applications.

Arterial spin labeling is a noninvasive, non-gadolinium-dependent magnetic resonance imaging (MRI) technique to assess cerebral blood flow. It provides insight into both tissue metabolic activity and vascular supply. Because of its non-sensitivity toward blood-brain barrier leakage, arterial spin labeling is also more accurate in cerebral blood flow quantification than gadolinium-dependent methods. The aim of this pictorial essay is to promote the application of arterial spin labeling in pediatric neuroradiology. The authors provide information on artifacts and pitfalls as well as numerous fields of application based on pediatric cases.

The effects of classroom noise on the reading comprehension of adolescents.

An investigation has been carried out to examine the impact of different levels of classroom noise on adolescents' performance on reading and vocabulary-learning tasks. A total of 976 English high school pupils (564 aged 11 to 13 years and 412 aged 14 to 16 years) completed reading tasks on laptop computers while exposed to different levels of classroom noise played through headphones. The tasks consisted of reading science texts, which were followed by multiple-choice questions probing comprehension and word learning. Number of questions attempted, times taken to read the texts and to answer questions were recorded, as well as correct answers to different types of question. The study consisted of two similar experiments, the first comparing performance in classroom noise at levels of 50 and 70 dB LAeq; and the second at levels of 50 and 64 dB LAeq. The results showed that the performance of all pupils was significantly negatively affected in the 70 dB LAeq condition, for the number of questions attempted and the accuracy of answers to factual and word learning questions. It was harder to discern effects at 64 dB LAeq, this level of noise having a detrimental effect upon the older pupils only.

Do Optic Canal Dimensions Measured on CT Influence the Degree of Papilloedema and Visual Dysfunction in Idiopathic Intracranial Hypertension?

A recent study found that increased optic canal area on magnetic resonance imaging was associated with worse papilloedema in idiopathic intracranial hypertension (IIH). We repeated this study using more accurate computerized tomography derived measurements. Optic canal dimensions were measured from 42 IIH patients and 24 controls.  These were compared with papilloedema grade.  There was no correlation between any of the optic canal measurements and papilloedema grade and no significant difference in optic canal measurements between patients and controls. Our results cast doubt on the existing literature regarding the association between optic canal size and the degree of papilloedema in IIH. CT delineates bony anatomy more accurately than MRI and our CT-derived optic canal measurements cast doubt on the existing literature regarding the association between optic canal size and the degree of Papilloedema in IIH.

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a 'prototypical' neurodevelopmental disorder with many clinical features overlapping with other intellectual and developmental disabilities (IDD). Therapeutic interventions for RTT may therefore have broader applications. However, the reliance on the laboratory mouse to identify viable therapies for the human condition may present challenges in translating findings from the bench to the clinic. In addition, the need to identify outcome measures in well-chosen animal models is critical for preclinical trials. Here, we report that a novel Mecp2 rat model displays high face validity for modelling psychomotor regression of a learned skill, a deficit that has not been shown in Mecp2 mice. Juvenile play, a behavioural feature that is uniquely present in rats and not mice, is also impaired in female Mecp2 rats. Finally, we demonstrate that evaluating the molecular consequences of the loss of MeCP2 in both mouse and rat may result in higher predictive validity with respect to transcriptional changes in the human RTT brain. These data underscore the similarities and differences caused by the loss of MeCP2 among divergent rodent species which may have important implications for the treatment of individuals with disease-causing MECP2 mutations. Taken together, these findings demonstrate that the Mecp2 rat model is a complementary tool with unique features for the study of RTT and highlight the potential benefit of cross-species analyses in identifying potential disease-relevant preclinical outcome measures.

Initial experience of an investigational 3T MR scanner designed for use on neonatal wards.

OBJECTIVES: MR imaging of neonates is difficult for many reasons and a major factor is safe transport to the MR facilities. In this article we describe the use of a small, investigational 3-T MR customised for brain imaging and sited on a neonatal unit of a tertiary centre in the UK, which is in contrast to a 300-m journey to the whole-body MR scanner used at present for clinical cases. METHODS: We describe our methods for preparing babies for safe transport and scanning on an investigational 3-T MR scanner on a neonatal unit and the development of appropriate MR sequences. The MR scanner does not have CE marking at present so this early development work was undertaken on normal neonates whose parents consented to a research examination. RESULTS: Fifty-two babies were scanned and there were no serious adverse events. The MR examinations were considered to be diagnostically evaluable in all 52 cases and in 90% the imaging was considered to be at least as good as the quality obtained on the 1.5-T scanner currently used for clinical cases. CONCLUSION: We have shown that this investigational 3-T MR scanner can be used safely on a neonatal unit and we have refined the MR sequences to a point that they are clinically usable. KEY POINTS: • Access to neonatal MR imaging is limited. • We describe an investigational 3-T MR scanner site on a neonatal unit. • The scanner produces images suitable for clinical practice.

Pituitary tumour apoplexy within prolactinomas in children: a more aggressive condition?

OBJECTIVES: To evaluate clinical presentations, diagnosis and management of paediatric patients presenting with pituitary apoplexy. METHODS: A retrospective case series describing a cohort of paediatric patients presenting with this condition from 2010-2016 to a tertiary referral children's hospital in the United Kingdom. RESULTS: Pituitary apoplexy is a rare condition that seems to have a higher relative incidence in children than adults. Our series suggests that pituitary apoplexy in paediatric patients with adenomas appears more common than previously described. All our patients required surgery, either as an acute or delayed procedure, for visual compromise. Two patients had commenced growth hormone (GH) for GH deficiency two weeks prior to the onset of pituitary apoplexy. CONCLUSIONS: With only a limited number of published case reports surrounding this topic our case series contributes to help further understand and manage this condition.

Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity.

Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.

Quantification of structural changes in the corpus callosumin children with profound hypoxic-ischaemic brain injury.

BACKGROUND: Birth-related acute profound hypoxic-ischaemic brain injury has specific patterns of damage including the paracentral lobules. OBJECTIVE: To test the hypothesis that there is anatomically coherent regional volume loss of the corpus callosum as a result of this hemispheric abnormality. MATERIALS AND METHODS: Study subjects included 13 children with proven acute profound hypoxic-ischaemic brain injury and 13 children with developmental delay but no brain abnormalities. A computerised system divided the corpus callosum into 100 segments, measuring each width. Principal component analysis grouped the widths into contiguous anatomical regions. We conducted analysis of variance of corpus callosum widths as well as support vector machine stratification into patient groups. RESULTS: There was statistically significant narrowing of the mid-posterior body and genu of the corpus callosum in children with hypoxic-ischaemic brain injury. Support vector machine analysis yielded over 95% accuracy in patient group stratification using the corpus callosum centile widths. CONCLUSION: Focal volume loss is seen in the corpus callosum of children with hypoxic-ischaemic brain injury secondary to loss of commissural fibres arising in the paracentral lobules. Support vector machine stratification into the hypoxic-ischaemic brain injury group or the control group on the basis of corpus callosum width is highly accurate and points towards rapid clinical translation of this technique as a potential biomarker of hypoxic-ischaemic brain injury.

Diffuse intrinsic pontine glioma: is MRI surveillance improved by region of interest volumetry?

BACKGROUND: Paediatric diffuse intrinsic pontine glioma (DIPG) is noteworthy for its fibrillary infiltration through neuroparenchyma and its resultant irregular shape. Conventional volumetry methods aim to approximate such irregular tumours to a regular ellipse, which could be less accurate when assessing treatment response on surveillance MRI. Region-of-interest (ROI) volumetry methods, using manually traced tumour profiles on contiguous imaging slices and subsequent computer-aided calculations, may prove more reliable. OBJECTIVE: To evaluate whether the reliability of MRI surveillance of DIPGs can be improved by the use of ROI-based volumetry. MATERIALS AND METHODS: We investigated the use of ROI- and ellipsoid-based methods of volumetry for paediatric DIPGs in a retrospective review of 22 MRI examinations. We assessed the inter- and intraobserver variability of the two methods when performed by four observers. RESULTS: ROI- and ellipsoid-based methods strongly correlated for all four observers. The ROI-based volumes showed slightly better agreement both between and within observers than the ellipsoid-based volumes (inter-[intra-]observer agreement 89.8% [92.3%] and 83.1% [88.2%], respectively). Bland-Altman plots show tighter limits of agreement for the ROI-based method. CONCLUSION: Both methods are reproducible and transferrable among observers. ROI-based volumetry appears to perform better with greater intra- and interobserver agreement for complex-shaped DIPG.

A survey of acoustic conditions and noise levels in secondary school classrooms in England.

An acoustic survey of secondary schools in England has been undertaken. Room acoustic parameters and background noise levels were measured in 185 unoccupied spaces in 13 schools to provide information on the typical acoustic environment of secondary schools. The unoccupied acoustic and noise data were correlated with various physical characteristics of the spaces. Room height and the amount of glazing were related to the unoccupied reverberation time and therefore need to be controlled to reduce reverberation to suitable levels for teaching and learning. Further analysis of the unoccupied data showed that the introduction of legislation relating to school acoustics in England and Wales in 2003 approximately doubled the number of school spaces complying with current standards. Noise levels were also measured during 274 lessons to examine typical levels generated during teaching activities in secondary schools and to investigate the influence of acoustic design on working noise levels in the classroom. Comparison of unoccupied and occupied data showed that unoccupied acoustic conditions affect the noise levels occurring during lessons. They were also related to the time spent in disruption to the lessons (e.g., students talking or shouting) and so may also have an impact upon student behavior in the classroom.

Successful treatment of metastatic relapse of medulloblastoma in childhood with single session stereotactic radiosurgery: a report of 3 cases.

Stereotactic radiosurgery (SRS) is an increasingly used treatment modality in adults, but its use and effectiveness in pediatric brain tumors is still uncertain. We describe 3 patients with metastatic relapse of medulloblastoma, who were treated with SRS, and achieved prolonged, progression-free survival. Tolerability of the treatment was excellent with no adverse effects reported. This work adds to the growing evidence that SRS may have an important role to play in the treatment of pediatric brain tumors.

A review of pathologies associated with high T1W signal intensity in the basal ganglia on Magnetic Resonance Imaging.

With several functions and a fundamental influence over cognition and motor functions, the basal ganglia are the cohesive centre of the brain. There are several conditions which affect the basal ganglia and these have various clinical and radiological manifestations. Nevertheless, on magnetic resonance imaging there is a limited differential diagnosis for those conditions presenting with T1 weighted spin echo hyperintensity within the central nervous system in general and the basal ganglia in particular. The aim of our review is to explore some of these basal ganglia pathologies and provide image illustrations.

Outcomes of percutaneous vertebroplasty in multiple myeloma: a tertiary neurosciences experience with long-term follow-up.

Background: Multiple myeloma is diagnosed in 5,800 people in the United Kingdom (UK) each year with up to 64% having vertebral compression fractures at the time of diagnosis. Painful vertebral compression fractures can be of significant detriment to patients' quality of life. Percutaneous vertebroplasty aims to provide long-term pain relief and stabilize fractured vertebrae. Methods and materials: Data was collected from all cases of percutaneous vertebroplasty performed on patients with multiple myeloma from November 2017 to January 2019. Pain scores were measured using the Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) pre-procedure, 2 months post procedure and 4 years post-procedure. Procedure related complications and analgesia use were also documented. Results: 22 patients were included with a total of 119 vertebrae treated. Patients reported a significant improvement in overall pain score with a median pre-procedure VAS of 8 and a median post-procedure VAS of 3.5 (p<0.0001). There was a median pre-procedure ODI score of 60% and a median post-procedure ODI score of 36% (p<0000.1). There was improvement across all ODI domains and a 77% reduction in analgesic requirement. There were small cement leaks into paravertebral veins or endplates at 15 levels (12%) which were asymptomatic. There were 8 responders to the long-term follow-up questionnaire at 4 years. This demonstrated an overall stable degree of pain relief in responders with a median VAS of 3.5 and median ODI of 30%. Conclusion: At this center, vertebroplasty has been shown to reduce both VAS and ODI pain scores and reduce analgesia requirements in patients with VCFs secondary to multiple myeloma with long lasting relief at 4 years post-procedure.

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.

Adolescents' perceptions of their school's acoustic environment: the development of an evidence based questionnaire.

A poor acoustic environment in a school is known to negatively affect pupils' learning and achievement. This paper presents the design and findings of an online questionnaire survey of 11-16 year olds' impressions of their school's acoustic environment. A total of 2588 English secondary school pupils responded to the questionnaire. Factor analysis was used to identify variables which best characterized pupils' impressions of their school's acoustic environment. Four factors, corresponding to ease of hearing in school spaces, sensitivity to noise, the consequences of noise in the classroom, and annoyance to intermittent noise, accounted for 43% of the total variance in pupils' responses to the questionnaire. Analysis of the responses on these factors showed that pupils who reported additional learning needs such as hearing impairment, speaking English as an additional language or receiving learning support reported being significantly more affected by poor school acoustics than pupils reporting no additional learning needs. Older pupils were significantly more sensitive to noise annoyance and to the consequences of poor acoustical conditions on their learning and behaviour than younger pupils. Pupils attending suburban schools featuring cellular classrooms that were not exposed to a nearby noise sources were more positive about their school acoustics than pupils at schools with open plan classroom designs or attending schools that were exposed to external noise sources. The study demonstrates that adolescents are reliable judges of their school's acoustic environment, and have insight into the disruption to teaching and learning caused by poor listening conditions. Furthermore, pupils with additional learning needs are more at risk from the negative effects of poor school acoustics.