AIM To describe the characteristics of paediatric cerebral sinus venous thrombosis (CSVT) inSwitzerland.METHOD Data on clinical features, neuroimaging, risk factors, and treatment were collected for all children in Switzerland younger than 16 years of age who had CSVT between January 2000 and December 2008. A follow-up examination and a cognitive assessment were performed (mean follow-up period 26mo). Differences between neonates and children (patients older than 28d) were assessed and predictors of outcome were determined.RESULTS Twenty-one neonates (14 males, seven females; mean age 9d, SD 8d) and 44 children (30 males, 14 females; mean age 8y 7mo, SD 4y 5mo) were reported. The incidence of paediatric CSVT in Switzerland was 0.558 per 100 000 per year. In neonates, the deep venous system was more often involved and parenchymal injuries were more common. The strongest predictor of poor outcome was neonatal age (odds ratio 17.8, 95% confidence interval 0. 847-372.353). Most children showed global cognitive abilities within the normal range, but impairments in single cognitive subdomains were frequent.INTERPRETATION Paediatric CSVT is rare. Its outcome is poor in neonates. Most children have good neurological outcomes, but some patients have individual neuropsychological impairments.Cerebral sinus venous thrombosis (CSVT) in children is rare. Based on a Canadian registry, its incidence is 0.67 cases per 100 000 children per year; neonates were the most commonly affected.1 The risk factors in neonates include maternal conditions, delivery complications, and neonatal comorbidities. [1][2][3][4] Older children often use prothrombotic agents such as oral contraceptives or suffer from infections of the head and neck or a chronic systemic illness.5-8 Prothrombotic states are increased in patients who suffer from CSVT.1,9 The superficial venous system is most commonly involved. 1,6,10 Parenchymal injuries, such as ischaemic or haemorrhagic infarcts, are often observed in conjunction with CSVT. [1][2][3]11,12 One-third of term neonates with intraventricular haemorrhage suffer from CSVT. 13Two to 10 per cent of the neonates 2,4 and 11 to 17% of the older children died after CSVT 2,6 . A recurrence of the thrombosis occurred in 6%.10 Thirty-eight per cent of the patients exhibited neurological deficits, such as motor impairment, cognitive problems, or epilepsy.1 The long-term outcome was especially poor in neonates. 1,2,4 In older children who suffered from CSVT, cognitive assessments with standardized and agenormalized tests showed cognitive performance within the normal range, 14,15 but individual impairments were seen in up to 20% of the patients. 14In the present study, we aimed to describe the incidence, clinical manifestation, neuroimaging findings, risk factors, and treatment of children suffering from CSVT in Switzerland. In addition, we systematically assessed outcomes after CSVT and identified predictors of poor outcome. METHOD Participants and data collectionThe Swiss Neuropaediatric Stroke Registry (SNPSR) is a...

N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body fluids is hardly detectable, 1H-MRS is a noninvasive technique for identifying neurometabolic diseases with absent NAA. This report puts NAA as a neuronal marker to question.

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Key PointsQuestionDoes treatment with l-citrulline and metformin combination therapy reduce motor function decline in ambulant patients with Duchenne muscular dystrophy?FindingsIn this randomized clinical trial of 47 ambulant male children aged 6.5 to 10 years with Duchenne muscular dystrophy, treatment with a combination of l-citrulline and metformin therapies provided a clinically relevant but not statistically significant reduction in motor function decline, as assessed by the transfer and standing posture dimension of the Motor Function Measure scale. No indications of harm were found in the intention-to-treat population.MeaningTreatment with a combination of l-citrulline and metformin therapies may slow muscle function decline in a specific subgroup of patients with Duchenne muscular dystrophy, but additional clinical trials with greater statistical power are warranted.

SUMMARYPurpose: Children with epilepsy have a significant risk for attention-deficit/hyperactivity disorder (ADHD), which is often accompanied by deficits in working memory performance. However, it is not yet clear whether there are specific differences in the underlying mechanisms of working memory capability between children with epilepsy-related ADHD and those with developmental ADHD. There is evidence that methylphenidate can improve the behavioral difficulties in children with developmental ADHD. Whether this medication has the same effect on ADHD symptoms in patients with epilepsy is not yet well understood. The aim of the present study is, therefore, to evaluate whether boys with epilepsy-related ADHD and developmental ADHD share a common behavioral, pharmacoresponsive, and neurofunctional pathophysiology. Methods: Seventeen boys with diagnosed combined epilepsy/ADHD, 15 boys with developmental ADHD, and 15 healthy controls (aged 8-14 years) performed on working memory tasks (N-back) while brain activation was recorded using functional magnetic resonance imaging. Each patient was tested twice: once after the intake of methylphenidate and once without in a counterbalanced order. Key Findings: On a behavioral level, we show that boys with epilepsy-related ADHD as well as those with developmental ADHD performed similarly poorly on tasks with high cognitive load when compared to healthy controls, and that intake of methylphenidate improved performance almost to normal levels in both ADHD groups. On the functional level, both patient groups showed similar reductions of activation in all relevant parts of the functional network of working memory when compared to controls. Of interest, intake of methylphenidate did not significantly alter this activity pattern. Significance: Our data show strong similarities between epilepsy-related and developmental ADHD on the behavioral, pharmacoresponsive, and neural level, favoring the view that ADHD with and without epilepsy shares a common underlying neurobehavioral pathophysiology.