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Abstract: Migraine is the most common cause of recurrent headache among children and adolescents resulting in missing of school and disabling their daily life. The purpose of this study is to determine the prevalence and clinical features of headache in junior high school children in Japan. In December 2004, questionnaires were sent to 14 junior high schools. There were multiple-choice type questions on headache, mainly migraine. The questionnaires were given during school hours, and 6472 answers were obtained. One thousand four hundred seventy-eight (22.8%) students experienced severe headache and 476 (7.4%) had consulted physicians. Three hundred thirteen (4.8%) were identified as having migraine based on the ICHD-II criteria, consisting of 110/3346 boys (3.3%) and 203/3126 girls (6.5%): 91 (29.1%) with aura and 222 (70.9%) without aura. In about half of the children the migraine attacks were of short duration, ranging from 1 to 3h. There were 36 boys (1.1%) and 45 girls (1.4%) who had shorter attacks of less than 1h, whom we did not diagnose as having migraine according to the ICHD-II criteria. Although migraine is common among schoolchildren, it is often under- or miss-diagnosed since the clinical figure for childhood migraine differs from that for adults. [Copyright &y& Elsevier]

Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3 . A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age. Motor deficits, which included bilateral hypotonia, ataxia, dysmetria, limb incoordination, dysarthria, choreoathetosis, and dystonia, were observed from one year and three months. Whole-exome sequencing detected a heterozygous de novo variant at c.2266C > T (p.Arg756Cys) in ATP1A3 . The episodic course and clinical features of this case were consistent with previously reported cases with mutations at Arg756. Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations. This report therefore provides evidence of genotype-phenotype correlations in ATP1A3 -related disorders as well as in patients with mutations at Arg756 in ATP1A3 . [ABSTRACT FROM AUTHOR]

Aim To determine the early changes and evolutions of brain diffusion-weighted imaging (DWI), and analyze prognostic factors of the early changes among patients with neonatal herpes simplex encephalitis (NHSE). Method We selected patients who developed encephalitis by 28 d after birth; had herpes simplex infection; and who underwent magnetic resonance imaging, including DWI, ⩽7 d of symptom onset. Thirty-two DWI scans between 0 and 28 d after onset in 13 patients and the clinical data were recruited. The distribution, evolution of the lesions, and neurological outcome were analyzed. Results DWI frequently showed multiple cortical lesions in both hemispheres in the early period and both hemispheres on DWI (8/9 scans at ⩽48 h, 7/7 patients). As time from onset increased, the cortical lesions tended to coincide with subcortical white matter lesions beneath the initial cortical lesions ( p < 0.01). Lesions from the cortex extended to the subcortical white matter in 7 patients. Deep cerebral lesions, involving basal ganglia, internal capsules, thalamus, were also found in 9 patients ⩽7 d of onset. The distributions of deep cerebral lesions (none/unilateral/bilateral) ⩽7 d of onset showed significant correlations with neurological prognoses (gross motor functions: p < 0.01; developmental or intellectual quotient scores: p < 0.01). Interpretation Cortical lesions were main findings of DWI in NHSE in the early period. Bilateral deep cerebral lesions ⩽7 d were highly indicative of poor motor and cognitive outcomes. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic factors of AED. Materials & methods: We recruited 33 children with AED, that is, widespread diffusion restriction in cortical and subcortical structures. Their clinical courses, laboratory data, MRI, and the efficacy of treatment were analyzed retrospectively. Results: Of the 33 children, 20 were males and the mean age at diagnosis was 22months. Eighteen children had good outcome and 15 had poor outcome. Univariate analysis showed loss of consciousness 24h after the onset, prolonged seizure at the onset, and mechanical ventilation to be weak predictors of poor outcome. Maximal aspartate aminotransferase, alanine aminotransferase, and creatinine kinase levels were significantly higher in the poor outcome group. Multivariate analysis showed loss of consciousness 24h after the onset and prolonged seizure at the onset to be poor predictors of AED. Treatment with steroids and/or immunoglobulins did not result in better outcome. Conclusion: Prolonged seizure at the onset and loss of consciousness 24h after the onset were seen at early stages of severe AED. Using these features, a prospective study of early intervention in AED should be conducted to further analyze the efficacy of its treatment. [Copyright &y& Elsevier]

Abstract: To clarify the features of acute encephalopathy associated with 2009 pandemic flu. We identified 51 patients with acute encephalopathy with seasonal flu from the data base accumulated by Tokai Pediatric Neurology Society. We also collected 10 patients with acute encephalopathy with 2009 pandemic flu. The clinical course, laboratory data, neuroimaging findings, treatment, and the outcome of these patients were recruited using a structured research form. These data were compared between the two groups. The age was larger in the 2009 pandemic flu group (median, 109.5months) than in the seasonal flu group (median, 44months). There was no significant difference in other demographic data, neurologic symptoms, laboratory and neuroimaging findings, and treatment. Various degrees of neurologic sequelae including death were observed in 32% of the patients in the seasonal flu group, and in 50% in the 2009 pandemic flu groups. The analyses of patients with ages of 6years or older revealed that moderate or more severe sequelae were more frequent in patients with 2009 pandemic flu. Acute encephalopathy with 2009 pandemic flu occurred mainly among children with 6years of age or older, and the outcome was worse in this age group compared with acute encephalopathy with seasonal flu. [Copyright &y& Elsevier]

Abstract: Background: Valproate (VPA) is a simple fatty acid and a substrate for the fatty acid β-oxidation pathway. Previous data suggested that the toxicity of VPA may be provoked by carnitine deficiency and the inhibition of mitochondrial β-oxidation. Objective: The aim of the present study was to elucidate the effect of VPA treatment on carnitine and isomer-differentiated acylcarnitine disposition, and determined the relationships between acylcarnitines and blood VPA levels in long-term treated patients with VPA and/or other antiepileptic drugs. Methods: Serum samples were obtained from children aged 1–15years old treated for at least 6months with VPA alone (n =28) or VPA combined with other anticonvulsants (n =23) and untreated controls (n =23). Serum acylcarnitines were separated from their isomers and quantified using high-performance liquid chromatography–tandem mass spectrometry. Results: We found higher 3-hydroxyisovalerylcarnitine levels and trace amounts of valproylcarnitine in both VPA monotherapy and polytherapy patients. Other acylcarnitines, hexanoylcarnitine, C12, C14:1-carnitines and the ratio of long-chain acylcarnitine to free carnitine were also higher in VPA polytherapy individuals than in controls. VPA monotherapy does not result in decreases in free carnitine or in the accumulation of long-chain acylcarnitines. Blood VPA concentrations correlated positively with hexanoylcarnitine, C12, C14:1, C16:1, C18:1-carnitines in all VPA-treated children (n =51). Conclusion: Long-term VPA treatment in pediatric patients could affect some specific acylcarnitines, which is enhanced by the concomitant use of other anticonvulsants, and the formation of valproylcarnitine alone seems insufficient to develop severe carnitine deficiency at therapeutic doses of VPA. [Copyright &y& Elsevier]

Abstract: Urea cycle disorders are congenital metabolic disorders that often cause episodic hyperammonemia. Neuroimaging in episodic hyperammonemia demonstrates several patterns of brain injuries, including focal lesions in the lentiform nucleus, insula, cingulate gyrus, and perirolandic fissure, as well as diffuse cerebral edema. In cases with neonatal onset of hyperammonemia, similar lesions have also been reported. We herein report a boy with severe neonatal hyperammonemia caused by ornithine transcarbamylase deficiency. He presented with parieto-occipital encephalomalacia, which resembles severe neonatal hypoglycemia on magnetic resonance imaging. This radiological finding may indicate parieto-occipital vulnerability not only to hypoglycemia but also to hyperammonemia. [Copyright &y& Elsevier]

Abstract: We report two heterosexual sibling cases of mild non-specific myopathy, with bilateral occipital cortical dysplasia and diffuse white matter hyperintensity on brain magnetic resonance imaging (MRI). The histological examination of the muscle in the elder sister revealed non-specific myopathic changes and no reductions of α-dystroglycan and laminin α2 expressions. The characteristic findings in the occipital lobe on brain MRI in both cases suggested cobblestone lissencephaly. Disrupted structure of the glia limitans and pial basement membrane complex, by a cause other than an α-dystroglycan and laminin α2 abnormality, may be the cause of the cortical dysplasia in the sibling cases. [Copyright &y& Elsevier]