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Background: Moyamoya is a progressive, non-atherosclerotic cerebral arteriopathy that may present in childhood and currently has no cure. Early diagnosis is critical to prevent a lifelong risk of neurological morbidity. Blood-oxygen-level-dependent (BOLD) MRI cerebrovascular reactivity (CVR) imaging provides a non-invasive, in vivo measure of autoregulatory capacity and cerebrovascular reserve. However, non-compliant or younger children require general anesthesia to achieve BOLD-CVR imaging. Objective: To determine the same-day repeatability of BOLD-CVR imaging under general anesthesia in children with moyamoya. Materials and methods: Twenty-eight examination pairs were included (mean patient age = 7.3 ± 4.0 years). Positive and negatively reacting voxels were averaged over signals and counted over brain tissue and vascular territory. The intraclass correlation coefficient (ICC), Wilcoxon signed-rank test, and Bland–Altman plots were used to assess the variability between the scans. Results: There was excellent-to-good (≥ 0.59) within-day repeatability in 18 out of 28 paired studies (64.3%). Wilcoxon signed-rank tests demonstrated no significant difference in the grey and white matter CVR estimates, between repeat scans (all p-values > 0.05). Bland–Altman plots of differences in mean magnitude of positive and negative and fractional positive and negative CVR estimates illustrated a reasonable degree of agreement between repeat scans and no systematic bias. Conclusion: BOLD-CVR imaging provides repeatable assessment of cerebrovascular reserve in children with moyamoya imaged under general anesthesia. [ABSTRACT FROM AUTHOR]

Bedside dysphagia assessment protocols are not well developed in acute pediatric stroke unlike adults. The objective of this study was to identify items deemed relevant and feasible by expert consensus to inform the development of a bedside dysphagia screening tool for acute pediatric stroke. A two-phase study was conducted: (1) literature review and expert consultation generated a comprehensive list of dysphagia assessment items; (2) items were formatted in an online survey asking respondents opinion of relevance to acute pediatric stroke and feasibility for bedside administration by a trained health professional. The Dillman Tailored Design approach optimized response rate. Respondents were identified using the snowball method. Speech-language pathologists with > 2 years in pediatric dysphagia were invited to complete the survey. Demographic and practice variables were compared using univariate statistics. Item relevance and feasibility were made using binary or ordinal responses, combined to derive item-content validity indices (I-CVI) to guide item reduction. Items with I-CVI > 0.78 (excellent content validity) were moved forward to tool development. Of the 71 invited respondents, 57(80.3%) responded, of which 34(59.6%) were from North America. Sixty-one items were generated of which 4(6.6%) items were rated 'to keep'. These were face symmetry (I-CVI:0.89), salivary control (I-CVI:0.95), alertness (I-CVI:0.89) and choking (I-CVI:0.84). Of all respondents, 31(54.4%) endorsed swallowing trials, of which 25(80.6%) endorsed thin liquid by teaspoon (n = 17, 68%) or open cup (n = 20, 80%). We identified candidate items for bedside dysphagia screening with excellent content validity for acute pediatric stroke patients. Next steps include assessment of the psychometric value of each item in identifying dysphagia in children in the acute stage of recovery from stroke. [ABSTRACT FROM AUTHOR]

Moyamoya disease is a major arteriopathy characterised by progressive steno-occlusion of the arteries of the circle of Willis. Studies in adults with moyamoya suggest an association between abnormal fronto-parietal and white matter regional haemodynamics and cognitive impairments, even in the absence of focal infarction. However, these associations have not been investigated in children with moyamoya. We examined the relationship between regional haemodynamics and ratings of intellectual ability and executive function, using hypercapnic challenge blood oxygen level–dependent magnetic resonance imaging of cerebrovascular reactivity in a consecutive cohort of children with confirmed moyamoya. Thirty children were included in the final analysis (mean age: 12.55 ± 3.03 years, 17 females, 15 idiopathic moyamoya and 15 syndromic moyamoya). Frontal haemodynamics were abnormal in all regardless of stroke history and comorbidity, but occipital lobe haemodynamics were also abnormal in children with syndromic moyamoya. Executive function deficits were noted in both idiopathic and syndromic moyamoya, whereas intellectual ability was impaired in syndromic moyamoya, even in the absence of stroke. Analysis of the relative effect of regional abnormal haemodynamics on cognitive outcomes demonstrated that executive dysfunction was predominantly explained by right parietal and white matter haemodynamics independent of stroke and comorbidity, while posterior circulation haemodynamics predicted intellectual ability. These results suggest that parietal and posterior haemodynamics play a compensatory role in overcoming frontal vulnerability and cognitive impairment. [ABSTRACT FROM AUTHOR]

Am J Neuroradiol 2009; 30: 232 - 52. 6 Toelle SP, Avetisyan T, Kuyumjyan N, Sukhudyan B, Boltshauser E, Hackenberg A. Infantile basal ganglia stroke after mild head trauma associated with mineralizing angiopathy of lenticulostriate arteries: an under recognized entity. Abbreviation AIS Arterial ischemic stroke In 2014, Lingappa et al.1 described a distinct clinicoradiological stroke syndrome in children, which they called "mineralizing angiopathy". We propose that a subgroup of children with isolated idiopathic basal ganglia AIS after minor head injury have mineralizing angiopathy and warrant consideration of a non-contrast CT to demonstrate the calcifications. Three had silent basal ganglia infarcts detected at the time of acute presentation, four had basal ganglia hemorrhage, and three had parietal or thalamic calcifications (Fig. [Extracted from the article]

The article reports that A previously healthy 2-year-old girl presented to the Emergency Department with 2-day history of vomiting, lethargy, fever, and poor oral intake. On initial presentation she was tachycardic with intermittent irritability. She also had dry mucous membranes, pallor, and mild dehydration.

Aim: To assess long‐term cognitive function in children after cerebral sinovenous thrombosis (CSVT). Method: Children with CSVT, who had neuropsychological testing for intellectual ability, executive function, attention, language, or behavior, were included in a prospective observational study. Outcomes were compared with normative means using one‐sample t‐tests. Predictors of abnormal function were examined using logistic regression. Results: Fifty children with CSVT were included (median age at diagnosis 2y 10mo, interquartile range 7d–6y 10mo; 35 males, 15 females). The median follow‐up time was 4 years 2 months (interquartile range 2y 8mo–6y 4mo). Compared with normative means, children with CSVT had lower mean (± standard deviation) full‐scale IQ, working memory, and processing speed scores (93.3±16, p=0.01; 93.6±16, p=0.04; 93.7±15.3, p=0.02 respectively). They also had lower scores in executive function, attention, and language domains. Refractory seizure at presentation was associated with a trend in behavioral problems (odds ratio [OR] 6.3, 95% confidence interval [CI] 0.9–46, p=0.07). Females were less likely to experience processing speed difficulties (OR 0.22, 95% CI 0.04–1.3, p=0.09). Incomplete recanalization was associated with a greater risk of abnormal verbal comprehension (OR 5.3, 95% CI 0.93–30.5, p=0.059). Interpretation: Children with CSVT as a group performed below age expectations on standardized neuropsychological tests, although there was variability across individuals and cognitive domains. Larger studies are needed to evaluate predictors of cognitive deficits in children with CSVT. [ABSTRACT FROM AUTHOR]

Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All individuals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss‐of‐function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment. [ABSTRACT FROM AUTHOR]

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Childhood arterial ischemic stroke often involves basal ganglia and thalamus but little is known about neuropsychological outcomes in this group. We examined intellectual ability, academics, attention, executive function, and psychological diagnoses in children and adolescents (6-20 years of age) with childhood stroke involving the basal ganglia (n = 32) or thalamus (n = 12). Intellectual ability was age-appropriate but working memory was significantly lower than expected. Compared to the normative mean, the stroke group exhibited significantly weaker performance in reading comprehension, math fluency, attention, and greater challenges with executive function. Children with basal ganglia stroke had weaker working memory and were more likely to receive diagnoses of Attention Deficit Hyperactivity Disorder and Anxiety Disorder than those with thalamic stroke. Lesion size was most important in predicting working memory ability, whereas age at stroke and age at test were important in predicting academic ability. [ABSTRACT FROM AUTHOR]

Dystonia is a movement disorder that involves excessive, involuntary muscle contractions resulting in repetitive movements and/or abnormal posturing. One common cause of unilateral dystonia in childhood is ischemic stroke involving the basal ganglia and/or thalamus. Virtually nothing is known about neuropsychological outcomes in children who have dystonia following basal ganglia stroke. The present study explored whether or not children with secondary dystonia experience additional cognitive challenges when compared to children with similar patterns of brain injury, but no dystonia. We examined intellectual function, academics, and several aspects of executive function in children with unilateral basal ganglia stroke during childhood, comparing those with dystonia and those without. Although groups did not differ in terms of lesion size, we found significantly lower performance on measures of verbal and nonverbal reasoning, inhibitory control, and academic ability in children with secondary dystonia compared to those without. In contrast, there were no significant group differences on parent ratings of their child’s executive function in daily life. These findings suggest that maladaptive reorganization following basal ganglia stroke may contribute to the development of secondary dystonia and also to poor intellectual and academic outcomes in this group. [ABSTRACT FROM AUTHOR]

Aim: We aimed to evaluate whether an institutional acute stroke protocol (ASP) could accelerate the diagnosis and secondary treatment of pediatric stroke.Method: We initiated an ASP in 2005. We compared 209 children (125 males, 84 females; median age 4.8y, interquartile range [IQR] 1.2-9.3y, range 0.09-17.7y) diagnosed with arterial ischemic stroke 'pre-protocol' (1992-2004) to 112 children (60 males, 52 females; median age 5.8y, IQR 1.0-11.4y, range 0.08-17.7y) diagnosed 'post-protocol' (2005-2012) for time-to-diagnosis, mode of diagnostic imaging, and time-to-treatment with antithrombotic medication (aspirin or anticoagulants).Results: Overall, the interval from symptom onset to diagnosis was similar post-protocol compared to pre-protocol (20.3 vs 22.7h; p=0.109), although mild strokes (Pediatric National Institute of Health Stroke Scale [PedNIHSS] 0-4), were diagnosed faster post-protocol (12.1 vs 36.3h; p=0.003). Magnetic resonance imaging (MRI) was the initial diagnostic modality more often post-protocol (25% vs 1.4%; p<0.001). Initial MRI was more accurate for diagnosing stroke than initial CT (100% vs 47%; p<0.001) with similar time-to-diagnosis. The proportion of children receiving antithrombotic medication within 24 hours doubled in the post-protocol period (83% vs 36%; p<0.001).Interpretation: A pediatric ASP accelerated time-to-treatment, time-to-diagnosis in children with subtle strokes, and increased MRI as initial imaging, reducing the need for computed tomography. Implementing optimized ASPs can facilitate more timely access to diagnosis and management of children with acute stroke. [ABSTRACT FROM AUTHOR]

Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. Methods We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics Clinic. Electronic patient charts were reviewed for clinical features, neuroimaging, biochemical investigations, and molecular genetic investigations including targeted next-generation sequencing of epileptic encephalopathy genes. Results Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes. Forty-five percent of patients obtained a genetic diagnosis by targeted next-generation sequencing epileptic encephalopathy panels. It is notable that 4.5% of patients had a treatable inherited metabolic disease. Significance To the best of our knowledge, this is the first study to combine inherited metabolic disorders and other genetic causes of epileptic encephalopathy. Targeted next-generation sequencing panels increased the genetic diagnostic yield from <10% to >25% in patients with epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

Background: Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. Methods: This retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fluid (CSF) homovanillic and 5-hydroxyindol acetic acid measurements. Patients with CSF neurotransmitter investigations suggestive of an inherited neurotransmitter disorder and patients with normal or non-diagnostic CSF neurotransmitter investigations underwent direct sequencing of single gene disorders. Results: There were 154 patients between October 2004 and July 2013. Four patients were excluded due to their diagnosis prior to this study dates. Two major clinical feature categories of patients who underwent lumbar puncture were movement disorders or epilepsy in our institution. Twenty out of the 150 patients (13.3%) were diagnosed with a genetic disorder including inherited neurotransmitter disorders (6 patients) (dihydropteridine reductase, 6-pyruvoyl-tetrahydropterin synthase, guanosine triphosphate cyclohydrolase I, tyrosine hydroxylase, pyridoxine dependent epilepsy due to mutations in the ALDH7A1 gene and pyridoxamine-5-phosphate oxidase deficiencies) and non-neurotransmitter disorders (14 patients). Conclusion: Prevalence of inherited neurotransmitter disorders was 4% in our retrospective cohort study. Eight out of the 150 patients (5.3%) had one of the treatable inherited metabolic disorders with favorable short-term neurodevelopmental outcomes, highlighting the importance of an early and specific diagnosis. Whole exome or genome sequencing might shed light to unravel underlying genetic defects of new inherited neurotransmitter disorders in near future. [ABSTRACT FROM AUTHOR]

Stroke is a relatively rare but rather significant cause of short- and long-term morbidity and mortality in children. It can be divided into three categories: arterial ischemic stroke (AIS), hemorrhagic stroke (HS) and cerebral sinovenous thrombosis (CSVT). This review focuses on AIS. The etiologies of pediatric AIS are diverse and different from those in adult stroke, chief among these being congenital heart disease, vasculopathies, hematological disorders and prothrombotic states. Additional factors might be related to the age group, ethnicity and geographic factors. Early recognition enables initiation of prompt therapy thereby reducing risk of further recurrence and complications. [ABSTRACT FROM AUTHOR]

This population-based study assesses the long-term impact of childhood stroke on function and independence in young adults. We undertook a cross-sectional outcome study of patients with arterial ischemic stroke and cerebral sinovenous thrombosis, beyond 18 years of age. We studied 26 patients; 21 arterial stroke, 5 cerebral sinovenous thrombosis, with 16 females. Mean age at assessment was 21.5 years, and mean follow-up time was 10.8 years. According to the modified Rankin Scale, final outcomes were 37% normal, 42% mild, 8% moderate, and 15% severe deficits. Risk factors for abnormal functional outcome included arterial ischemic stroke, presence of arteriopathy, and 1-year poststroke Pediatric Stroke Outcome Measure score ≥ 2 (P < .05). Most (77-84%) were independent in driving, relationships, and employment. Functional status at 1 year poststroke strongly predicts long-term outcome. Mental illness in one-quarter of young adults surviving childhood stroke represents an important direction for research. [ABSTRACT FROM AUTHOR]

Aim To describe outcomes and outcome predictors in childhood basilar artery stroke ( BAS). Method We prospectively enrolled children with BAS with or without basilar artery occlusion ( BAO) in the Toronto Children's Stroke Registry from 1992 to 2009. We assessed presenting features and outcomes including Pediatric Stroke Outcome Measure scores. Results Among 578 children with acute arterial ischemic stroke, 27 had BAS (4.6% including neonates, 6% excluding neonates). Twenty-four (14 males, 10 females) children met study criteria (mean age at stroke was 8y 10mo; range 0-17y). Eleven children had BAO. Aspirin or anticoagulation was given to 15 children. None received tissue plasminogen activator or endovascular treatments. At mean follow-up (3y 2mo, range 1mo-11y 8mo), 12 had a 'good outcome' (seven normal, five insignificant deficit) and 12 had 'poor outcome' (10 moderate or severe deficit, two acute deaths). Larger infarct size (≥50% of axial brainstem diameter) independently predicted poor outcome ( p=0.02; odds ratio 21.2, 95% confidence interval 1.6-274.9) but not BAO, altered level of consciousness, or age. Interpretation Compared with adults, in childhood BAS death is rare and survivors frequently have good outcomes. Aggressive endovascular interventions may not be justifiable in this population. [ABSTRACT FROM AUTHOR]

Aim Wallerian degeneration is a radiological finding thought to reflect corticospinal tract degeneration. This finding on magnetic resonance imaging (MRI) is routinely used as a predictor of poor prognosis in childhood stroke. However, its validity has never been established. Our objective was to correlate Wallerian degeneration seen on MRI with histopathology. Method We searched the databases of the Department of Pathology and Children's Stroke registry at the Hospital for Sick Children, Toronto for autopsy specimens exhibiting focal infarcts from children born at term who underwent MRI after a stroke. The specimens were examined for Wallerian degeneration and then correlated with the pre-mortem MRI findings. Results Seven children (four females, three males) with a median age of 11 years (1-17y) at the time of stroke met the inclusion criteria for this study. Of the seven children included in the study with ischaemic or haemorrhagic infarcts, six had concordant Wallerian degeneration findings on both MRI and post-mortem histopathological examination. The median time between stroke and death was 20 days (3-1825d). Interpretation Our results show for the first time that the radiographic finding of Wallerian degeneration is a valid biomarker of corticospinal tract degeneration in children who have had ischaemic or haemorrhagic stroke. [ABSTRACT FROM AUTHOR]

Aim Moyamoya vasculopathy is characterized by progressive stenosis of the major arteries of the Circle of Willis, resulting in compromised cerebral blood flow and increased risk of stroke. The objectives of the current study were to examine intellectual and executive functioning of children with moyamoya and to evaluate the impact of moyamoya type, stroke (clinical or silent), vasculopathy laterality, and disease duration on neurocognitive abilities. Method Thirty pediatric participants (mean age 10y 10mo, SD 4y; 18 females, 12 males) completed age-appropriate Wechsler Intelligence Scales before any therapeutic revascularization procedures. Reports of executive function were obtained from parents and teachers using the Behavior Rating Index of Executive Function. Results Children with moyamoya scored significantly lower than the test standardization samples on all indices of intelligence and ratings of executive functioning ( p<0.001). Patients did not differ by type of moyamoya or history of stroke. Patients with bilateral disease and stroke scored significantly lower than those with unilateral disease on measures of overall intellectual function ( p=0.035) and verbal comprehension ( p=0.04). Deficits in metacognitive executive functions were also more pronounced in bilateral patients according to teacher ratings. Interpretation Children with moyamoya are at risk for intellectual and executive problems, exacerbated by bilateral disease and clinical stroke history. [ABSTRACT FROM AUTHOR]

Neonatal cerebral sinovenous thrombosis is a frequent contributor to neonatal mortality and morbidity. Treatment is controversial, and reported clinical outcomes vary widely. Newborns with radiologically confirmed neonatal cerebral sinovenous thrombosis from 1992 to 2009 were prospectively followed in our Children’s Stroke Clinic for standardized outcomes, including the Pediatric Stroke Outcome Measure. Outcomes were available in 90 of 104 (87%) neonates. Early outcomes included cerebral sinovenous thrombosis-associated death (5) and thrombus propagation (15 [6 associated with new venous infarcts]). Lack of anticoagulation predicted propagation (RR = 13; P = .0007). Complete thrombus recanalization occurred in 90% by 3 months. Late outcomes (median, 2.5 years) were epilepsy (15) and neurological disability (50), which included moderate-severe language (43), sensorimotor (38), and cognitive/behavioral (24) deficits. Overall, 61% had poor outcome (death/any deficit). Concurrent neurological comorbidity at diagnosis (odds ratio = 2.8; P = .029) predicted poor outcome. Clinical trials are urgently needed to establish more effective treatment strategies. [ABSTRACT FROM AUTHOR]

There is little consensus regarding optimal surveillance of optic pathway glioma (OPG) and plexiform neurofibroma (PNF) in childhood neurofibromatosis type 1 (NF1). 18F-2-Fluoro-2-deoxy- D-glucose (FDG) positron emission tomography and computed tomography (PET/CT) is employed in the surveillance of adult PNFs; but its utility has neither been specifically studied in children with PNFs nor in children with OPG. Review of PET/CT studies was performed in NF1 children with OPG or PNF. FDG-avidity of tumours was semi-quantitatively analysed and graded by calculating the maximum standardised uptake value (SUVmax) [grade 1: <3 (low), grade 2: >3–<4 (intermediate), grade 3: >4 (intense)]. Eighteen children (ten girls; median age: 8.5–years) had PET/CT. Nineteen OPGs were imaged. The SUVmax could be measured in 16. Ten were grade 1 and three each were grade 2 and grade 3. FDG-avidity reduced from grade 3 to grade 1 in two symptomatic OPGs following chemotherapy and this was associated with clinical improvement. PET/CT diagnosed symptomatic OPGs with a sensitivity of 0.625 [95% confidence interval (CI): 0.259–0.897] and specificity of 0.875 (95% CI: 0.466–0.993). Sixteen PNFs were imaged. Twelve were grade 1 and two each were grade 2 and grade 3. The two grade 3 PNFs were confirmed malignant peripheral nerve sheath tumours. PET/CT diagnosed malignant transformation with a sensitivity of 1.0 (95% CI: 0.197–1.0) and specificity of 0.857 (95% CI: 0.561–0.974). PET/CT may contribute useful information to the surveillance of OPG in childhood NF1—particularly to identify progressive, symptomatic tumours. As in adults, PET/CT is useful for the detection of malignant transformation in PNFs in children with NF1. [ABSTRACT FROM AUTHOR]

Objective Clinical trials are lacking in pediatric cerebral sinovenous thrombosis (CSVT). Neonates and children increasingly receive anticoagulant therapy (ACT) based on adult studies. Safety data for ACT in pediatric CSVT are scant and urgently needed. The objective was to assess the safety and outcome of ACT in pediatric CSVT. Methods In a single-center prospective study, neonates and children with CSVT received ACT (standard/low molecular weight heparin, warfarin) by standardized protocol. A study neuroradiologist (M.S.) assessed all initial and follow-up neuroimaging for intracranial hemorrhage (ICH), thrombus propagation, and recanalization. Clinical outcome was assessed with the Pediatric Stroke Outcome Measure. Results Among 162 pediatric patients, 85 received ACT at diagnosis, including 29/83 (35%) neonates and 56/79 (71%) children. Major hemorrhage occurred in 6% (6/99) of treated patients, including 14% (3/21 neonates, 2/15 children) with and 2% (0/17 neonates, 1/46 children) without pretreatment ICH. ACT-associated bleeds were all nonfatal, and clinical outcome was favorable in 50%, similar to the remaining patients (53%). Early follow-up imaging demonstrated thrombus propagation in 11/57 neonates (10/35 [28%] without and 1/22 [4%] with ACT [ p = 0.037]) and 10/63 children (7/19 [37%] without and 3/44 [7%] with ACT [ p = 0.006]). Propagation was associated with new venous infarcts in 10% neonates and 40% children and worse clinical outcome in children ( p = 0.053). Recanalization occurred earlier and more completely in neonates ( p = 0.002). Clinical outcome was unfavorable in 47%. Interpretation In pediatric CSVT, ACT appears safe. Nontreatment with ACT is associated with thrombus propagation, observed in ¼ of untreated neonates and over ⅓ of children. Anticoagulants merit strong consideration in pediatric CSVT. ANN NEUROL 2010;67:590-599 [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is a common neurogenetic condition associated with cognitive dysfunction and learning disability. Over the past decade, important and consistent findings have emerged that provide insight into the neurobiological correlates of NF1. In this review, we examine the structural and functional neuroimaging literature in individuals with NF1 and discuss findings that have emerged. Collectively, the studies reviewed here highlight structural and functional brain abnormalities as a feature of NF1 and that these abnormalities contribute to the cognitive impairments that are commonly seen. The most compelling structural finding has been an increase in total brain volume with additional areas of interest including the corpus callosum, cerebral asymmetries and differences in grey and white matter. Although the application of functional neuroimaging techniques in NF1 is in its infancy, early evidence suggests alterations in brain organisation for language and visuospatial function as well as thalamic hypometabolism. Suggestions for future research are discussed, including the importance of addressing specific hypotheses in well-defined subsamples of children with NF1 using appropriate control groups. Identifying the underlying neuropathology of NF1 will be of increased importance as targeted interventions begin to emerge. [ABSTRACT FROM AUTHOR]

Cerebral sinovenous thrombosis is a rare but potentially serious condition often occurring in children with nonspecific presenting features. Much remains to be learned about the long-term outcome of infants with cerebral sinovenous thrombosis. We report a series of four patients taken from a prospective database of neonates with sinovenous thrombosis who subsequently developed infantile spasms, three with hypsarrythmia on electroencephalography and one with multiple independent spike foci. The first patient presented at 2 weeks of age with hypernatremia, dehydration, and seizures. He was found to have extensive thrombosis and hemorrhagic infarction of the right basal ganglia. The second patient presented at 5 weeks of life and was found to have sagittal sinus thrombosis with bilateral intracranial hemorrhage. The third patient presented with seizures on day 1 of life and was found to have venous thrombosis involving the torcular, extending into the sagittal sinus. The fourth patient presented at 3 weeks with lethargy and seizures. He was diagnosed with bacterial meningitis and also had extensive sinus thrombosis. All patients developed infantile spasms at ages 9, 7, 11, and 10 months, respectively. This is the first report in the English literature describing infantile spasms as a possible outcome of sinovenous thrombosis in early infancy. [ABSTRACT FROM AUTHOR]

The article discusses the benefits of anticoagulation therapy (ACT) in the treatment of neonatal cerebral sinovenous thrombosis (CSVT) in the presence or absence of pre‐existing intracerebral haemorrhage (ICH). It is mentioned that ACT may reduce thrombus propagation. The article further adds that a position of equipoise is justified, supporting the need for placebo‐controlled randomized trials.

This commentary is on the original article by van der Aa et al. on pages 283–290 of this issue. [ABSTRACT FROM AUTHOR]

The author comments on a study about cerebral sinovenous thrombosis in children. According to the author, accurate diagnosis of this disease requires dedicated intracranial venous imaging techniques such as computed tomography venography and magnetic resonance venography. The author cites the reasons why most neonates are not given anticoagulation therapy. The author asserts that this study needs to be interpreted with caution due to limitations.