担当区分：筆頭著者,　責任著者   記述言語：英語   出版者・発行元：Pediatric Neurology  

Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an autoimmune demyelinating disorder that often manifests after infections or vaccinations. We report two patients who developed MOGAD out of eight patients with juvenile myelomonocytic leukemia (JMML) that has never been reported. Methods: We investigated two patients with JMML who developed MOGAD among 127 patients with leukemia from 2012 to 2021. Results: Patient 1 was treated for JMML and developed fever and impaired consciousness at two years and one month of age. Magnetic resonance imaging revealed high-intensity lesions in the left frontal and left occipital white matter. The serum anti-MOG antibody test was positive, while the test was negative in the stored serum 45 days before the onset of encephalopathy. He had relapse of MOGAD after steroid therapy and plasmapheresis. Patient 2, who was treated for JMML, became apathetic and mute at three years and seven months of age. Magnetic resonance imaging revealed left frontoparietal subcortical high-intensity lesions. Anti-MOG antibody at the onset of encephalopathy was positive, while it was negative in stored serum 57 days before and 47 days after the onset. Conclusion: We treated two patients who developed MOGAD out of eight patients with JMML and none with MOGAD out of 119 patients with acute lymphocytic leukemia, acute myelocytic leukemia, or chronic myelocytic leukemia. The activated autoimmune process via the RAS pathway abnormality may have led to the formation of the anti-MOG antibody and the onset of MOGAD. MOGAD can occur in children with JMML, and abnormalities of the RAS pathway possibly contribute to its onset.

DOI： 10.1016/j.pediatrneurol.2023.03.002

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記述言語：英語   出版者・発行元：Scientific Reports  

This work aimed to investigate the involvement of the thalamic nuclei in mesial temporal lobe epilepsy (MTLE) and identify the influence of interictal epileptic discharges on the neural basis of memory processing by evaluating the functional connectivity (FC) between the thalamic nuclei and default mode network-related area (DMNRA) using magnetoencephalography. Preoperative datasets of nine patients with MTLE with seizure-free status after surgery and those of nine healthy controls were analyzed. The FC between the thalamic nuclei (anterior nucleus [ANT], mediodorsal nucleus [MD], intralaminar nuclei [IL]), hippocampus, and DMNRA was examined for each of the resting, pre-spike, spike, and post-spike periods in the delta to ripple bands using magnetoencephalography. The FC between the ANT, MD, hippocampus, and medial prefrontal cortex increased in the gamma to ripple bands, whereas the FC between the ANT, IL, and DMNRA decreased in the delta to beta bands, compared with that of the healthy controls at rest. Compared with the rest period, the pre-spike period had significantly decreased FC between the ANT, MD, and DMNRA in the ripple band. Different FC changes between the thalamic nuclei, hippocampus, and DMNRA of specific connections in a particular band may reflect impairment or compensation in the memory processes.

DOI： 10.1038/s41598-023-37834-2

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：European Journal of Paediatric Neurology  

Objectives: Ataxic-rigid gait is a characteristic gait pathology in patients with Rett syndrome (RTT). In the present study, we aimed to quantitatively evaluate gait pathology in patients with RTT using three-dimensional gait analysis (3DGA). Methods: We performed 3DGA in 11 patients with RTT ranging from 5 to 18 years (median age, 9 years) and in 33 age-matched healthy female controls. We compared the results of 3DGA, including spatiotemporal gait parameters and comprehensive indices of gait kinematics, such as the Gait Deviation Index (GDI) and Gait Profile Score (GPS), between the two groups. The GPS consists of nine sub-indices called Gait Variable Scores (GVSs). Decline in GDI or elevation of GPS and GVS indicated greater abnormal gait pathology. Results: The patients demonstrated significantly slower walking speed, lower step length/length of the lower extremities, lower cadence, wider step width, and higher coefficient of variation of step length than the controls. Moreover, the patients had a lower GDI and higher GPS than the controls. The patients also exhibited higher GVSs for eight out of nine gait kinematics, particularly the sagittal plane in the pelvis, hip, knee, and ankle joint; coronal plane in the pelvis and hip joint; and horizontal plane in the pelvis than the controls. Conclusions: Quantitative evaluation of gait pathology in patients with RTT is possible using 3DGA. We found that in addition to ataxic-rigid gait, abnormalities in the coronal plane of the pelvis and hip joint and the horizontal plane of the pelvis were prominent.

DOI： 10.1016/j.ejpn.2022.11.010

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出版者・発行元：東京医学社  

DOI： 10.24479/pm.0000000594

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：American Journal of Neuroradiology  

BACKGROUND AND PURPOSE: West syndrome is a developmental and epileptic encephalopathy characterized by epileptic spasms, neurodevelopmental regression, and a specific EEG pattern called hypsarrhythmia. Our aim was to investigate the brain activities related to hypsarrhythmia at onset and focal epileptiform discharges in the remote period in children with West syndrome using simultaneous electroencephalography and fMRI recordings. MATERIALS AND METHODS: Fourteen children with West syndrome underwent simultaneous electroencephalography and fMRI at the onset of West syndrome. Statistically significant blood oxygen level-dependent responses related to hypsarrhythmia were analyzed using an event-related design of 4 hemodynamic response functions with peaks at 3, 5, 7, and 9 seconds after the onset of each event. Six of 14 children had focal epileptiform discharges after treatment and underwent simultaneous electroencephalography and fMRI from 12 to 25 months of age. RESULTS: At onset, positive blood oxygen level-dependent responses were seen in the brainstem (14/14 patients), thalami (13/14), basal ganglia (13/14), and hippocampi (13/14), in addition to multiple cerebral cortices. Group analysis using hemodynamic response functions with peaks at 3, 5, and 7 seconds showed positive blood oxygen level-dependent responses in the brainstem, thalamus, and hippocampus, while positive blood oxygen level-dependent responses in multiple cerebral cortices were seen using hemodynamic response functions with peaks at 5 and 7 seconds. In the remote period, 3 of 6 children had focal epileptiform discharge- related positive blood oxygen level-dependent responses in the thalamus, hippocampus, and brainstem. CONCLUSIONS: Positive blood oxygen level-dependent responses with hypsarrhythmia appeared in the brainstem, thalamus, and hippocampus on earlier hemodynamic response functions than the cerebral cortices, suggesting the propagation of epileptogenic activities from the deep brain structures to the neocortices. Activation of the hippocampus, thalamus, and brainstem was still seen in half of the patients with focal epileptiform discharges after adrenocorticotropic hormone therapy.

DOI： 10.3174/ajnr.A7646

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Brain and Development  

Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a common type of acute encephalopathy in Japan; the condition is clinically characterized by prolonged seizures as the initial neurological symptom, followed by late seizures 4–6 days later. It is difficult to differentiate AESD from prolonged febrile seizures (PFSs). Here, we explored the use of electroencephalography to differentiate AESD from PFSs. Methods: We studied the electroencephalograms (EEGs) of children <6 years of age diagnosed with AESD or PFSs; all EEGs were recorded within 48 h of seizure onset (i.e., before the late seizures of AESD). Two pediatric neurologists evaluated all EEGs, focusing on the basic rhythm, slowing during wakefulness/arousal by stimuli, spindles, fast waves, and slowing during sleep. Results: The EEGs of 14 children with AESD and 31 children with PFSs were evaluated. Spindles were more commonly reduced or absent in children with AESD than in those with PFSs (71% vs. 31%, p = 0.021). Fast waves were also more commonly reduced or absent in children with AESD (21% vs. 0%, p = 0.030). The rates of all types of slowing did not differ between children with AESD and those with PFSs, but continuous or frequent slowing during sleep was more common in the former (50% vs. 17%, p = 0.035). Conclusions: EEG findings may usefully differentiate AESD from PFSs. Reduced or absent spindles/fast waves and continuous or frequent slowing during sleep are suggestive of AESD in children with prolonged seizures associated with fever.

DOI： 10.1016/j.braindev.2021.11.003

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Pediatrics International  

Background: We aimed to investigate electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) findings to elucidate the interictal epileptiform discharge (IED)-related functional alterations in deep brain structures and the neocortex in childhood epilepsy with centrotemporal spikes (CECTS). Methods: Ten children with CECTS (median age 8.2 years), referred to our hospital within a year of onset, were eligible for inclusion. They underwent EEG-fMRI recording during sleep. Llongitudinal evaluations, including medical examinations, intelligence tests, and questionnaires about developmental disabilities, were performed. The initial evaluation was performed at the same time as the EEG-fMRI, and the second evaluation was performed over 2 years after the initial evaluation. Results: Three children were unable to maintain sleep during the EEG-fMRI recording, and the remaining seven children were eligible for further assessment. All patients showed unilateral-dominant centrotemporal spikes during scans. One patient had only positive hemodynamic responses, while the others had both positive and negative hemodynamic responses. All patients showed IED-related hemodynamic responses in the bilateral neocortex. For deep brain structures, IED-related hemodynamic responses were observed in the cingulate gyrus (n = 4), basal ganglia (n = 3), thalamus (n = 2), and default mode network (n = 1). Seizure frequencies at the second evaluation were infrequent or absent, and the longitudinal results of intelligence tests and questionnaires were within normal ranges. Conclusions: We demonstrated that IEDs affect broad brain areas, including deep brain structures such as the cingulate gyrus, basal ganglia, and thalamus. Deep brain structures may play an important role in the pathophysiology of CECTS.

DOI： 10.1111/ped.15001

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記述言語：英語   出版者・発行元：Epilepsy and Behavior  

Purpose: This multicenter study examined the effectiveness and tolerability of lacosamide (LCM) for children and young adults with epilepsy, particularly in patients who had previously been treated with other sodium channel blockers (SCBs) and the difference in effectiveness and tolerability when using other concomitant SCBs. Methods: We retrospectively studied the clinical information of patients aged <30 years given LCM to treat epilepsy. The effectiveness and adverse events (AEs) of LCM and the other SCBs were investigated. Factors related to the effectiveness and AEs of LCM, such as the number of antiepileptic drugs (AEDs) tried before LCM and concomitantly used SCBs, were also studied. Results: We enrolled 112 patients (median age = 11 years). One year after starting LCM, 29% of the patients were seizure free, and 50% had a ≥50% seizure reduction. Of the patients, 17% experienced AEs, the most common being somnolence. A ≥50% seizure reduction was observed for LCM in 30% of patients in whom other SCBs had not been effective. Lacosamide produced a ≥50% seizure reduction in 35% of the patients taking one concomitant SCB. By contrast, no patients had ≥50% seizure reduction, and 33% developed AEs, when LCM was administered concomitantly with two SCBs. Conclusions: Lacosamide was effective in 30% of children and young adults in whom other SCBs had not been effective. The effectiveness of LCM may differ from that of other SCBs, and it is worth trying in patients with epilepsy resistant to other AEDs.

DOI： 10.1016/j.yebeh.2021.108397

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Brain and Development  

Background: Brush or delta brush is a well-known characteristic waveform in preterm electroencephalograms. However, the longitudinal trajectory of brushes and its association with neurodevelopment remain uncertain. Methods: We analyzed the longitudinal incidence of brushes in 36 extremely low birth weight infants without severe brain lesions and its association with neurodevelopment and white matter abnormality. Conventional eight-channel electroencephalograms were recorded at 30, 32, 36, and 40 postmenstrual weeks (PMW). Incidence of brushes was calculated as the sum of brushes from each channel separated by active sleep and quiet sleep. A developmental delay was defined as a developmental quotient of <85 assessed at corrected age of 18 months. White matter abnormalities were evaluated with term-equivalent magnetic resonance imaging. Results: The median incidence of brushes (per minute) in 36 infants at PMW 30, 32, 36, and 40 was 16.4, 20.4, 22.5, and 1.8 during active sleep and 7.5, 10.3, 11.5, and 1.7 during quiet sleep, respectively. Among the 36 infants, 14 infants were diagnosed with developmental delay. Longitudinal trajectories of the incidence of brushes were different between the normal and the delayed development groups. Brushes were observed most frequently at 36 PMW in the delayed development group. The incidence of brushes at 36 PMW was significantly correlated with the severity of white matter abnormalities and negatively correlated with the developmental quotient. Conclusion: The incidence of brushes at 36 PMW can be a unique predictor of early neurodevelopment in extremely low birth weight infants without severe brain lesions.

DOI： 10.1016/j.braindev.2021.07.003

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Epilepsy and Behavior  

Objective: Repetitive sleep starts (RSS) are clusters of nonepileptic, spasm-like movements occurring during sleep onset. However, their characteristics have yet to be defined. We conducted a clinicoelectroencephalographic study of children with RSS to clarify their detailed characteristics. Methods: To differentiate starts from epileptic spasms, we recruited children with brief “crescendo–decrescendo” muscle contractions that simultaneously involved the limbs and trunk without electroencephalogram changes, and that fulfilled the following criteria: (1) repeated occurrence (five or more) and (2) manifestation during sleep stage N1–N2. A total of nine children met these criteria. Their clinical information and video-electroencephalogram data were analyzed retrospectively. Results: The background conditions observed at onset of RSS were perinatal hypoxic–ischemic encephalopathy (n = 4), West syndrome of unknown etiology (n = 1), and traumatic brain injury (n = 1). The age at onset of RSS, the number of starts in a given RSS cluster, the interval between starts, and the duration of surface electromyogram activity were between 3 and 46 months, 5 and 547, <1 and 60 s, and 0.3 and 5.4 s, respectively. None of the median value of these parameters differed between children with and without corticospinal tract injury. During the median follow-up period of 33 months, RSS disappeared spontaneously in five. Conclusion: This is the largest case series of RSS clarifying their clinicoelectroencephalographic characteristics reported to date. To avoid unnecessary antiepileptic therapies, clinicians should be aware of RSS and distinguish it from other disorders involving involuntary movements or seizures, especially epileptic spasms.

DOI： 10.1016/j.yebeh.2021.108075

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Magnetic Resonance Imaging  

The accuracy of brain age estimates from magnetic resonance (MR) images has improved with the advent of deep learning artificial intelligence (AI) models. However, most previous studies on predicting age emphasized aging from childhood to adulthood and old age, and few studies have focused on early brain development in children younger than 2 years of age. Here, we performed brain age estimates based on MR images in children younger than 2 years of age using deep learning. Our AI model, developed with one slice each of raw T1- and T2-weighted images from each subject, estimated brain age with a mean absolute error of 8.2 weeks (1.9 months). The estimates of our AI model were close to those of human specialists. The AI model also estimated the brain age of subjects with a myelination delay as significantly younger than the chronological age. These results indicate that the prediction accuracy of our AI model approached that of human specialists and that our simple method requiring less data and preprocessing facilitates a radiological assessment of brain development, such as monitoring maturational changes in myelination.

DOI： 10.1016/j.mri.2021.03.004

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記述言語：英語   出版者・発行元：Neuroradiology  

Purpose: Brain MRI provides important information about suspected congenital CMV infection in neonatally underdiagnosed children. This study aimed to describe MRI findings in children in whom congenital CMV infection was not suspected during the neonatal period and was proven retrospectively. Methods: We enrolled 31 children referred to the pediatric neurology clinic with neurological symptoms who were proven to have congenital CMV infection based on dried umbilical cord samples. Upon diagnosis, MR and CT images were assessed using the van der Knaap scoring system integrated with additional variables. Two investigators independently assessed all images. Results: The age at diagnosis was < 12 months in 14, 12–24 months in 11, and > 24 months in 6 patients. The initial symptom triggering clinic referral was delayed development in 22, seizure in 5, deafness in 3, and hemiplegia in 1 patient. Of the 31 children, 30 had a white matter (WM) abnormality predominant in the deep WM of the parietal lobe (n = 25). Anterior temporal lesions were observed in 21 children. Cortical lesions were observed in 7 children, suggestive of polymicrogyria. No child had cerebellar or brainstem abnormalities. Brain CT was performed in 22 of 31 children, and 11 showed punctate cerebral calcification in the periventricular and/or deep WM. Conclusion: Patients with congenital CMV infection with delayed neurological symptoms show a relatively uniform pattern of parietal-dominant multifocal WM lesions and anterior temporal lesions, with or without polymicrogyria.

DOI： 10.1007/s00234-020-02603-9

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Epilepsy and Behavior  

Objective: Bacille de Calmette et Guérin (BCG) is a live vaccine for tuberculosis that is administered to all infants in Japan. Adrenocorticotropic hormone (ACTH) therapy for West syndrome (WS) causes immunosuppression and may result in BCG infection after BCG vaccination. We evaluated the safety of ACTH therapy initiated shortly after BCG vaccination. Methods: We analyzed patients with WS who received ACTH therapy between 2005 and 2018. We evaluated the interval between BCG and ACTH therapy, and the rate of BCG infection during and after ACTH therapy, by retrospective chart review. Results: Seventy-nine patients were included in the analysis. Twenty-three patients received ACTH therapy prior to BCG vaccination. For the remaining 56 patients, the median interval between BCG vaccination and the start of ACTH therapy (BCG–ACTH interval) was 91.5 (range 14–280) days. The BCG–ACTH interval was shorter in patients with unknown than in those with known etiologies. It was <8 weeks in 13 patients (10 with unknown and 3 with known etiologies). The minimum BCG–ACTH interval was 14 days. Six patients with epileptic spasms received BCG vaccinations because physicians did not recognize their seizures. None of the patients developed BCG infection. Conclusion: No patients who received ACTH therapy after BCG, even at an interval of 8 weeks, developed BCG infection. The timing of ACTH therapy initiation should be based on the risk of BCG-related adverse events and the adverse effects of any delay.

DOI： 10.1016/j.yebeh.2021.107924

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記述言語：英語   出版者・発行元：Brain and Development  

Background and purpose: Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center. Methods: We studied 48 shuffling babies who visited Toyota Municipal Child Development Center from April 2007 to March 2015. We excluded patients with cerebral palsy, Down syndrome, or congenital disorders. In 2018, we retrospectively reviewed the clinical charts of the enrolled children. We investigated family history, neurological findings, and the developmental outcome during the follow-up period. Results: During the follow-up period, 20 children (42%) were diagnosed with ASD. Gross motor development in infancy was not different between infants with and without ASD. The rate of poor eye contact at the first visit and a delay in the first word speech were significantly higher in infants with ASD than in infants without ASD. A family history of bottom shuffling was significantly less frequent in infants with ASD (10%) than in those without (39%). Conclusion: Some of bottom shufflers may represent ASD during follow-up. Paying attention to social and cognitive functions in shuffling babies is important.

DOI： 10.1016/j.braindev.2020.08.007

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記述言語：英語   出版者・発行元：Brain and Development  

Purpose: To establish an objective method of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods: FDG-PET was performed in 8 patients with a mean age of 12.5 years (range, 2–22 years) with GLUT1-DS. Their PET findings were compared with those of 45 controls with a mean age of 11.2 years (range, 2–21 years) by statistical parametric mapping (SPM12, Welcome Neurological Institute). The controls had epilepsy of unknown etiology and normal MRI findings. The age-adjusted ratios of mean radioactivities in regions of interest (ROIs) of bilateral lenticular nuclei, thalami, and the whole cerebral cortex were also measured. The sensitivities and specificities of the ratios for the differential diagnosis of GLUT1-DS were also determined. Results: SPM showed significantly decreased uptake in bilateral thalami and increased uptake in bilateral lenticular nuclei in patients with GLUT1-DS. There were no areas in the cerebral cortex with significant differences between patients and controls. On ROI analysis, by setting the cut-off value of the age-adjusted lenticular nuclei/thalami radioactivity ratio to 1.54, patients with GLUT1-DS were differentiated from controls with sensitivity of 1.00 and specificity of 0.98. Conclusion: The age-adjusted lenticular nuclei/thalami radioactivity ratio on PET can distinguish patients with GLUT1-DS from patients with epilepsy of unknown etiology with high sensitivity and specificity. It is important to pay attention to the metabolism of the lenticular nuclei and thalami on PET for the diagnosis of GLUT1-DS.

DOI： 10.1016/j.braindev.2020.07.001

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記述言語：英語   出版者・発行元：一般社団法人 日本周産期・新生児医学会  

<p> フェノバルビタール（以下PB）及びミダゾラム（以下MDL）に抵抗性の新生児発作の治療について十分なエビデンスは未だ得られていない．新生児発作にホスフェニトイン（以下fos-PHT）が有効であった1例を報告する．症例は，在胎40週5日に胎児機能不全のため吸引分娩にて出生した．Apgar Score1点（1分），4点（5分），5点（10分）で，新生児仮死が疑われNICUに入院した．生後32時間よりamplitude-integrated EEG（以下aEEG）波形は鋸歯状パターンを呈し，脳波波形では律動的に反復する同一波形を認めた．左上肢の間代性けいれんも出現し新生児発作と診断した．PB及びMDL投与で発作は持続し，fos-PHT投与で発作は消失した．低血圧や徐脈などの副作用は認めなかった．両親にfos-PHTが新生児に対し適応外使用である旨を説明し同意を得た．本症例では新生児発作にfos-PHTが有効で，安全に使用することができた.</p>

DOI： 10.34456/jjspnm.57.1_124

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記述言語：英語   出版者・発行元：Pediatric Neurology  

Background: Advances in hematopoietic stem cell transplantation have improved the survival rate of malignant diseases and congenital immunodeficiencies. It has become important to assess long-term complications in survivors. To assess neurological abnormalities in children treated by transplantation, diffusion tensor imaging was performed. Methods: Forty children who underwent head diffusion tensor imaging before and after their first transplantation were enrolled. Patients with brain lesions on conventional MRI were excluded. Fractional anisotropy and mean diffusivity were compared between patients and 28 control subjects using tract-based spatial statistics. The Strengths and Difficulties Questionnaire was administered as a behavioral evaluation after transplantation, and diffusion tensor images of patients with and without behavioral abnormalities were compared. Results: The age of patients and controls was 0 to 19 years and 0 to 16 years, respectively. The date of diffusion tensor imaging was 10 to 57 days before and 40 to 153 days after transplantation. Tract-based spatial statistics showed fractional anisotropy reduction in widespread white matter in patients before and after transplantation. Mean diffusivity was high before transplantation and normalized after transplantation. Analysis comparing before and after hematopoietic stem cell transplantation shows no difference in fractional anisotropy and significantly high mean diffusivity before hematopoietic stem cell transplantation. In patients with behavioral abnormalities, low fractional anisotropy and high mean diffusivity remained after transplantation. Conclusions: Longitudinal diffusion tensor imaging showed white matter abnormalities in children without conventional MRI abnormalities, which were related to behavioral problems after transplantation. Diffusion tensor imaging is useful for behavioral assessment in children undergoing transplantation.

DOI： 10.1016/j.pediatrneurol.2020.06.008

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記述言語：英語   出版者・発行元：Clinical Neurophysiology  

Objective: The early diagnosis of beta-propeller protein-associated neurodegeneration (BPAN) before distinct brain magnetic resonance imaging (MRI) findings of iron deposition occur remains challenging. This study examined whether children with BPAN have characteristic high-amplitude (>50 μV) fast activity (HAFA) on electroencephalography (EEG). Methods: We conducted a retrospective analysis of EEG performed during childhood in five patients with BPAN. We also examined 143 EEGs from 59 patients with different etiologies, including epilepsy (n = 33), acute encephalopathy (n = 6), neurodevelopmental disorders (n = 5), non-epileptic events (n = 4), and others (n = 11). Trained electroencephalographers reviewed all of the EEGs. When excessive fast activity was observed, the amplitude, frequency, and locality were assessed. Results: All five patients with BPAN underwent initial EEGs at 12–21 months old, and diffuse continuous HAFA (range 20–50 Hz) was observed on both awake and sleep EEGs. In the awake records, there was no clear posterior dominant rhythm in 4 of the 5 patients. Although 28% of the 143 EEGs had continuous excessive fast activity, mainly in the sleep records, only two (1.4%) exhibited HAFA when asleep, and their awake EEGs had clear posterior dominant rhythm. Conclusions: The EEGs of children with BPAN showed diffuse HAFA continuously when both awake and asleep, which is uncommon in children with other etiologies. Significance: This study provides an important clue for the early diagnosis of BPAN.

DOI： 10.1016/j.clinph.2020.06.006

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記述言語：英語   出版者・発行元：European Journal of Paediatric Neurology  

Aim: Little is known about acute febrile status epilepticus-induced injury of extrahippocampal structures. To clarify the presence and clinical significance of acute extrahippocampal injuries, we performed diffusion-weighted imaging (DWI) in children immediately after prolonged febrile seizure (PFS). Method: We performed a retrospective cohort study in children younger than 6 years old who visited one of two hospitals due to PFSs between January 2013 and October 2018. PFS was defined as a febrile seizure that persisted for 15 min or longer. We collected brain DWI data within 6 h of the end of PFS. When the initial DWI detected an abnormality, a follow-up DWI was performed a few days later. Results: The study population consisted of 101 patients with PFSs. DWI was performed within 6 h in 51 patients, while the remaining 50 patients did not undergo imaging because of good recovery of consciousness. Restricted cortical diffusion was evident in 9 (18%) patients on initial DWI. All of them underwent DWI within 100 min after PFS. Restricted cortical diffusion was associated with male sex, asymmetrical PFS symptoms, and a shorter duration between the end of the seizure and DWI, but was not associated with seizure duration. All cortical abnormalities had resolved on follow-up DWI of these patients within 72 h after the initial imaging, but ipsilateral hippocampal hyperintensity appeared in one patient. All 9 patients with restricted cortical diffusion were finally diagnosed with PFS and discharged without sequelae. Conclusions: Some children with PFSs exhibit transient restricted diffusion in the regional cortex on DWI performed immediately after the end of PFS. These transient diffusion changes were not associated with unfavorable epileptic sequelae or neuroimaging in the short-term.

DOI： 10.1016/j.ejpn.2020.05.004

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Neurosurgery  

OBJECTIVE The authors recently reported a novel subsecond analysis method of analyzing EEG–functional MRI (fMRI) to improve the detection rate of epileptic focus. This study aims to validate the utility of this method for presurgical evaluation in pharmacoresistant focal epilepsy. METHODS Among 13 patients with focal epilepsy undergoing presurgical examinations including simultaneous EEG-fMRI at 3T, 11 patients had interictal epileptiform discharges (IEDs) during fMRI. The authors used the sequence of topographic maps during the IEDs as a reference to obtain subsecond fMRI activation maps with the same temporal resolution as the EEG data, and constructed “spike-and-slow-wave-activation-summary” (SSWAS) maps that showed the activation frequency of voxels during IEDs. Clusters were defined by thresholding the SSWAS maps (voxel value > 10), and those containing voxels with the top 3 highest activation frequencies were considered significant. Significant hemodynamic responses using conventional event-related (ER) analysis and SSWAS maps were compared with the resection areas and surgical outcomes at 1 year after surgery. RESULTS Using ER analysis, 4 (36%) of 11 patients had significant hemodynamic responses. One of 4 patients had significant hemodynamic responses in the resection area and good surgical outcome. Using SSWAS maps, 10 (91%) of 11 patients had significant hemodynamic responses. Six of 10 patients had significant hemodynamic responses in the resection area, and 5 of the 6 patients achieved good surgical outcomes. The remaining 4 patients had significant hemodynamic responses distant from the resection area, and only 1 of the 4 patients achieved good surgical outcomes. The sensitivity, specificity, positive predictive value, and negative predictive value of SSWAS maps were 83.3%, 75.0%, 83.3%, and 75.0%, respectively. CONCLUSIONS This study demonstrated the clinical utility of SSWAS maps for presurgical evaluation of pharmacoresistant focal epilepsy. The findings indicated that subsecond EEG-fMRI analysis may help surgeons choose the resection areas that could lead to good surgical outcomes.

DOI： 10.3171/2020.1.JNS192567

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Scientific Reports  

Deep-seated epileptic focus estimation using magnetoencephalography is challenging because of its low signal-to-noise ratio and the ambiguity of current sources estimated by interictal epileptiform discharge (IED). We developed a distributed source (DS) analysis method using a volume head model as the source space of the forward model and standardized low-resolution brain electromagnetic tomography combined with statistical methods (permutation tests between IEDs and baselines and false discovery rate between voxels to reduce variation). We aimed to evaluate the efficacy of the combined DS (cDS) analysis in surgical cases. In total, 19 surgical cases with adult and pediatric focal epilepsy were evaluated. Both cDS and equivalent current dipole (ECD) analyses were performed in all cases. The concordance rates of the two methods with surgically identified epileptic foci were calculated and compared with surgical outcomes. Concordance rates from the cDS analysis were significantly higher than those from the ECD analysis (68.4% vs. 26.3%), especially in cases with deep-seated lesions, such as in the interhemispheric, fronto-temporal base, and mesial temporal structures (81.8% vs. 9.1%). Furthermore, the concordance rate correlated well with surgical outcomes. In conclusion, cDS analysis has better diagnostic performance in focal epilepsy, especially with deep-seated epileptic focus, and potentially leads to good surgical outcomes.

DOI： 10.1038/s41598-020-62098-5

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記述言語：英語   出版者・発行元：Pediatric Research  

Objective: The objective of this study was to describe a novel amplitude-integrated electroencephalography (aEEG) pattern in infants with hypoxic–ischemic encephalopathy (HIE) and to assess the clinical significance. Methods: The aEEG traces of infants with HIE who were treated with therapeutic hypothermia (TH) from 2012 to 2017 were analyzed. A pseudo-sawtooth (PST) pattern was defined as a periodic increase of the upper and/or lower margin of the trace on aEEG without showing seizure activities on conventional EEG (CEEG). Results: Of the 46 infants, 6 (13%) had the PST pattern. The PST pattern appeared following a flat trace or a continuous low-voltage pattern and was followed by a burst-suppression pattern. On CEEG, the PST pattern consists of alternating cycles of low-voltage irregular activities and almost flat tracing. The PST pattern was associated with neuroimaging abnormalities and with various degrees of neurodevelopmental outcomes. Positive predictive values of the PST or worse pattern for adverse outcomes were high at 12 h after birth. Conclusion: A novel aEEG background pattern in infants with HIE was reported. The PST pattern likely indicates a suppressed background pattern and may be linked to unfavorable outcomes. Further multicenter validation study is needed to clarify its clinical significance.

DOI： 10.1038/s41390-019-0567-5

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記述言語：英語   出版者・発行元：Brain and Development  

FA2H encodes fatty acid 2-hydroxylase, which plays a significant role in maintaining the neuronal myelin sheath. Previous reports have revealed that a FA2H mutation leads to spastic paraplegia, leukodystrophy, and neurodegeneration with brain iron accumulation, collectively referred to as fatty acid hydroxylase-associated neurodegeneration (FAHN). The disease severity of FAHN varies among individual patients and may be explained by the enzyme activity of FA2H mutant proteins. Here we report a 10-year-old Japanese boy with FAHN having novel heterozygous mutations in FA2H. The patient presented with a spastic gait since the age of 5 years and was unable to walk without a cane by the time he was 8 years old. Brain MRI demonstrated a partial thinning of the corpus callosum, slight reduction of cerebellar volume, and posterior dominant periventricular leukodystrophy. Whole exome sequencing revealed two novel missense mutations in FA2H with compound heterozygous inheritance (NM_024306, p.Val149Leu, and p.His260Gln mutations). The enzyme activities of the p.Val149Leu and p.His260Gln variants were 60%–80% and almost 0%, respectively. Our cell-based enzyme assay demonstrated partial functionality for one of the variants, indicating a milder phenotype. However, considered along with previous reports, there was no definite relationship between the disease severity and residual enzyme activity measured using a similar method. Further research is needed to precisely predict the phenotypic severity of this disorder.

DOI： 10.1016/j.braindev.2019.11.006

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記述言語：英語   出版者・発行元：Epilepsy and Behavior  

We conducted a questionnaire survey to examine the knowledge about and attitudes toward epilepsy among school teachers in an urban area in Japan. The questionnaire consisted of six questions: two questions about contact with children with epilepsy, one about knowledge about emergency care, and three about attitudes toward the participation of children with epilepsy in school events. The respondents answered each question using a five-point Likert scale: strongly agree, agree, undecided, disagree, or strongly disagree. A total of 713 teachers completed the questionnaire. More than one-third of the teachers had taught children with epilepsy, and more than half had witnessed a seizure. Although 36% thought that one should “put something in the mouth during a seizure”, fewer believed in restricting swimming, out-of-school activities, and sports. Special school teachers were less likely to suggest putting something in the mouth during a seizure and restrict swimming than were normal school teachers. The answers did not differ according to teacher age or contact with children with epilepsy. Contact with children with epilepsy was relatively common among school teachers, whereas knowledge about epilepsy was insufficient. Negative attitudes toward epilepsy were uncommon. Special school teachers knew more about epilepsy than normal school teachers.

DOI： 10.1016/j.yebeh.2019.06.005

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記述言語：日本語   出版者・発行元：一般社団法人 日本小児神経学会  

<p>脳波検査は古くから人の脳機能を把握する検査として行われている. 急性脳症における知見も積み重ねられてはいるが, 近年その診断には頭部MRIの存在感が高まっている. しかし, 脳波は脳機能をリアルタイムに, また持続的に把握できる検査法であり, 急性脳症・脳炎では必ず考慮されるべき検査法である. 急性脳症では頭部MRIよりも早く異常所見を呈することがあり, 脳波検査により早期に診断できる可能性がある. また, 持続脳波モニタリングを行うことで潜在性の発作を検出することができ, 発作の早期治療介入により予後を改善させることが期待される. 血圧, 心電図, 酸素飽和度のように生体情報モニターとして脳波が使用されていくことを望む.</p>

DOI： 10.11251/ojjscn.52.246

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記述言語：日本語   出版者・発行元：一般社団法人 日本小児神経学会  

DOI： 10.11251/ojjscn.52.238

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記述言語：英語   出版者・発行元：No To Hattatsu  

Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) is identified in some patients with ADEM. Whether serial change of MOGAb titer is useful for deciding on the therapeutic strategy for multiphasic ADEM has not been clarified. We report the case of multiphasic ADEM who was treated with intravenous immunoglobulin (IVIG) therapy and whose MOG-Ab was serially evaluated. The patient is 9-yearold boy. He showed acute onset of headache and delirium. T2-weighted and fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) showed multiple hyperintense lesions in bilateral subcortical and cortical areas, and we diagnosed the patient with ADEM. Although symptoms and MRI lesions were resolved by steroid pulse therapy, he experienced three time relapses characterized by headache and abnormal behavior as well as new MRI lesions during tapering of the therapy. We started monthly IVIG from 5 months after onset, and no relapse of ADEM was encountered. MOG-Ab titer ranged from 4,096 to 2,048 before IVIG therapy. After starting IVIG, MOG-Ab titer gradually decreased. We were able to decrease and discontinue oral steroids. After steroid discontinuation, MOG-Ab titer remained low. We started to decrease the dose of IVIG at 1 year and 3 months after the onset of ADEM and terminated IVIG at 1 year and 9 months after onset by checking low titer of MOG-Ab. Our results suggest that serial evaluations of MOG-Ab may contribute to the monitoring of disease activity and decision-making on drug tapering and termination for multiphasic ADEM. The utility of serial evaluations should be validated in studies of larger numbers of patients.

DOI： 10.11251/ojjscn.52.414

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記述言語：英語   出版者・発行元：一般社団法人 日本神経救急学会  

<p>救急・ICU管理において脳波モニタリングが有用な疾患として，感染などを契機に発症する急性脳症がある。「二相性発作と遅発性拡散能低下を示す急性脳症（AESD）」と呼ばれる急性脳症は，発症時は熱性けいれん重積と鑑別が困難で，数日後に二相目の発作群発が起こるとともに高度の大脳白質の浮腫が出現する。発症時のMRIでは異常がみられないため，早期の熱性けいれんとの鑑別のために脳波が重要である。またICUで鎮静下に治療を行うため臨床観察のみでは発作の診断が困難で，脳波モニタリングが治療の指標になる。近年は急性脳症に対して低体温療法を試みることが増えており，低体温療法中の脳波所見も知っておく必要がある。これらのICU脳波モニタリングにはamplitude-integrated EEGやdense spectral arrayなどのトレンドグラムが有用である。</p>

DOI： 10.11170/jjsnecc.31.2_22

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記述言語：英語   出版者・発行元：Epilepsia  

Objective: To assess hippocampal signal changes on diffusion-weighted imaging (DWI) during the acute period after febrile status epilepticus (FSE) and to examine the relationship between DWI and subsequent epilepsy. Methods: A prospective, multicenter study of children with a first episode of FSE was performed. The patients underwent magnetic resonance imaging (MRI) within 3 days of FSE, and signal intensity was evaluated on DWI. Electroencephalography studies within 3 days of FSE were also assessed. Nine to 13 years after FSE, information on subsequent epilepsy was obtained. Results: Twenty-two children with FSE were evaluated. DWI showed unilateral hippocampal hyperintensity in six patients (27%). Three of six patients with hippocampal hyperintensity had ipsilateral thalamic hyperintensity. On EEG within 3 days of FSE, five of six patients with hippocampal hyperintensity had ipsilateral focal slowing, spikes, or attenuation. Nine to 13 years later, the outcomes could be determined in five patients with hippocampal hyperintensity and in 10 without. All 5 patients with hippocampal hyperintensity had hippocampal atrophy and developed focal epilepsy, whereas only 1 of 10 patients without hippocampal hyperintensity developed epilepsy (P = 0.002). Ictal semiology was concordant with temporal lobe seizures in all patients. Ipsilateral temporal epileptiform abnormalities were seen on EEG in four of five at last follow-up. Significance: Acute DWI hippocampal hyperintensity was seen in 27% of patients with FSE. Acute DWI hyperintensity suggests cytotoxic edema caused by prolonged seizure activity. Hippocampal DWI hyperintensity is related to mesial temporal lobe epilepsy and can be a target of neuroprotective treatments to prevent the onset of epilepsy.

DOI： 10.1111/epi.16059

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Pediatrics International  

DOI： 10.1111/ped.13793

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記述言語：英語   出版者・発行元：Epilepsy and Behavior Case Reports  

DOI： 10.1016/j.ebcr.2018.09.011

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1186/s13256-018-1931-5

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記述言語：英語   出版者・発行元：American Journal of Neuroradiology  

BACKGROUND AND PURPOSE: Despite the development of neuroimaging, identification of focal cortical dysplasia remains challenging. The purpose of this study was to show the longitudinal changes of MR imaging and FDG-PET in patients with West syndrome and subtle focal cortical dysplasia. MATERIALS AND METHODS: Among 52 consecutive patients with West syndrome, 4 were diagnosed with subtle focal cortical dysplasia on 3T MR imaging. MR imaging and PET findings were evaluated longitudinally at onset and at 12 and 24 months of age. RESULTS: At the onset of West syndrome, MR imaging demonstrated focal signal abnormalities of the subcortical white matter in 2 patients. In the other 2 patients, focal subcortical high-intensity signals became visible on follow-up T2WI as myelination progressed. PET at onset showed focal cortical hypometabolism in 3 patients, with 1 of these patients also having focal hypermetabolism and 1 having normal findings. On PET at 24 months, hypometabolism persisted in 2 patients and disappeared in 1, and hypermetabolism disappeared in 1. In 1 patient with normal MR imaging and PET findings at onset, focal hyperintensity and hypometabolism first appeared at 24 months of age. The findings on MR imaging and PET in these patients evolved differently with brain maturation and the clinical course. CONCLUSIONS: Subtle focal cortical dysplasia can be undetectable on MR imaging at the onset of West syndrome and is not always accompanied by hypometabolism or hypermetabolism on PET. Longitudinal MR imaging and PET studies may be useful for detecting such lesions. Even in West syndrome with a congenital structural abnormality, PET findings evolve differently with brain maturation and the clinical condition.

DOI： 10.3174/ajnr.A5772

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記述言語：英語  

DOI： 10.1016/j.braindev.2017.11.007

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記述言語：英語   出版者・発行元：Epilepsia  

Objective: To clarify longitudinal changes in white matter microstructures from the onset of disease in patients with West syndrome (WS) of unknown etiology. Methods: Diffusion tensor imaging (DTI) was prospectively performed at onset and at 12 and 24 months old in 17 children with WS of unknown etiology. DTI was analyzed using tract-based spatial statistics (TBSS) and tract-specific analysis (TSA) of 13 fiber tracts, and fractional anisotropy (FA) and mean diffusivity (MD) were compared with those of 42 age-matched controls. Correlations of FA and MD with developmental quotient (DQ) at age 24 months were analyzed. Multiple comparisons were adjusted for using the false discovery rate (q-value). Results: TBSS analysis at onset showed higher FA and lower MD in the corpus callosum and brainstem in patients. TSA showed lower MD in bilateral uncinate fasciculi (UF) (right: q < 0.001; left: q = 0.03) at onset in patients. TBSS showed a negative correlation between FA at onset and DQ in the right frontal lobe, whereas FA at 24 months old exhibited a positive correlation with DQ in the diffuse white matter. MD for bilateral UF at 24 months old on TSA correlated positively with DQ (q = 0.04, both). Significance: These findings may indicate the existence of cytotoxic edema in the immature white matter and dorsal brainstem at onset, and subsequent alterations in the diffuse white matter in WS of unknown etiology. Microstructural development in the UF might play important roles in cognitive development in WS.

DOI： 10.1111/epi.13988

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記述言語：英語   出版者・発行元：Epilepsy Research  

Objective The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. Methods The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs. PNEs in the former group were classified based on the suspected seizure type. Results Of 886 habitual paroxysmal events, vEEG confirmed that 83 events (68 children) were PNEs. The median age of the 68 children was 3.2 years. Concurrent epilepsies included focal epilepsies (n = 33), infantile spasms (n = 16), and other types (n = 19). The most common types of PNEs were sleep myoclonus (n = 11), followed by stereotypies (n = 9), awake myoclonus (n = 8), paroxysmal ocular deviations (PODs, n = 8), and tonic posturing (n = 8). Even after direct observation or video viewing, the doctors suspected epileptic seizures in all three of the PODs and two of the tonic posturing children. Before the vEEG, however, the accurate visual information led to the speculation that the four psychogenic and two sleep myoclonus events were all PNEs. Myoclonus, stereotypies, and head drops were often misdiagnosed as epileptic spasms, while PODs and tonic posturing were often misdiagnosed as focal seizures with motor components. Additionally, staring and motion arrest during a drowsy state were often misdiagnosed as focal dyscognitive seizures. Seven of eight patients with PODs had epileptic spasms that were concurrent with epileptic seizures. A diffuse cerebral lesion or reduced visual acuity was seen in seven patients with PODs. Conclusion We re-emphasize that vEEG is essential for accurate diagnosis and provides evidence for listing POD in the differential diagnosis of oculomotor paroxysmal events.

DOI： 10.1016/j.eplepsyres.2017.02.009

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

DOI： 10.1007/s11548-017-1554-0

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その他リンク： https://dblp.uni-trier.de/db/journals/cars/cars12.html#KawagishiCFSSKY17

記述言語：英語   出版者・発行元：American Journal of Neuroradiology  

BACKGROUND AND PURPOSE: West syndrome is an epileptic encephalopathy characterized by epileptic spasms, a specific pattern on electroencephalography of hypsarrhythmia, and developmental regression. Our aim was to assess white matter abnormalities in West syndrome of unknown etiology. We hypothesized that diffusion tensor imaging reveals white matter abnormalities, especially in patients with poor seizure and developmental outcomes. MATERIALS AND METHODS: We enrolled 23 patients with new-onset West syndrome of unknown etiology. DTI was performed at 12 and 24 months of age. Fractional anisotropy images were compared with those of controls by using tract-based spatial statistics. We compared axial, radial, and mean diffusivity between patients and controls in the fractional anisotropy skeleton. We determined correlations of these parameters with developmental quotient, electroencephalography, and seizure outcomes. We also compared DTI with hypometabolism on fluorodeoxyglucose positron-emission tomography. RESULTS: At 12 months of age, patients showed widespread fractional anisotropy reductions and higher radial diffusivity in the fractional anisotropy skeleton with a significant difference on tract-based spatial statistics. The developmental quotient at 12 months of age correlated positively with fractional anisotropy and negatively with radial and mean diffusivity. Patients with seizure and abnormal findings on electroencephalography after initial treatments had lower fractional anisotropy and higher radial diffusivity. At 24 months, although tract-based spatial statistics did not show significant differences between patients and controls, tract-based spatial statistics in the 10 patients with a developmental quotient of <70 had significant fractional anisotropy reduction. In patients with unilateral temporal lobe hypometabolism on PET, tract-based spatial statistics showed greater fractional anisotropy reduction in the temporal lobe ipsilateral to the side of PET hypometabolism. CONCLUSIONS: Diffuse abnormal findings on DTI at 12 months of age suggest delayed myelination as a key factor underlying abnormal findings on DTI. Conversely, asymmetric abnormal findings on DTI at 24 months may reflect underlying focal pathologies.

DOI： 10.3174/ajnr.A4589

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記述言語：英語   出版者・発行元：Brain and Development  

Objective: This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). Methods: We analyzed 124 FHR traces of neonates delivered preterm at 27-33. weeks' gestation to 105 mothers. FHR traces 1-3. h before delivery were translated into power-spectrum curves using a fast Fourier transformation. The total power (the area under the curve of 1-10 cycles per minute), segmental power of every cycle per minute, peak power, and frequency edges were calculated, and their relationship with the subsequent development of PVL was examined. Results: Total power was significantly higher in the PVL group (n= 9, median 1813, range 1064-2426) compared to the non-PVL group (n= 114, median 1383, range 381-3324, p= 0.029). Infants in the PVL group had greater segmental power in segments with 1-2, 2-3, and 9-10 cycles per minute, than those in the non-PVL group. Total power of ≥1550 was significantly correlated with the subsequent development of PVL and premature rupture of membranes. Furthermore, the frequency of pregnancy-induced hypertension was significantly reduced in the fetuses with a total power of ≥1550. Conclusion: Our study suggests that a fetus with increased FHR variability is at risk of developing PVL. This study provides additional evidence supporting the contribution of antenatal factors to the subsequent development of PVL.

DOI： 10.1016/j.braindev.2015.08.008

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記述言語：英語   出版者・発行元：Seizure  

DOI： 10.1016/j.seizure.2016.01.005

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：European Journal of Paediatric Neurology  

Objective To clarify the clinical and radiological spectrum of posterior reversible encephalopathy syndrome (PRES) in children, and to identify the prognostic factors. Methods The records of 40 children with PRES were reviewed. Acute clinical symptoms, MRI including apparent diffusion coefficient (ADC) maps in the acute and follow-up periods and neurological sequelae, including epilepsy, were noted. Results Age at onset ranged from 2 to 16 years. Underlying disorders were hematological or neoplastic disorders (n = 20), renal diseases (n = 14) and others (n = 6). In the acute period, 31 patients had seizures, 25 had altered consciousness, 11 had visual disturbances and 10 had headache. Of 29 patients who had ADC maps in the acute period, 13 had reduced diffusivity as shown by ADC within PRES lesions. Of 26 patients with follow-up MRI, 13 had focal gliosis or cortical atrophy. No patients had motor impairment, and four patients had focal epilepsy. No clinical variables were associated with focal gliosis or cortical atrophy on follow-up MRI, but lesional ADC reduction in the acute period was prognostic for focal gliosis or cortical atrophy on follow-up MRI (p = 0.005). Conclusions To the best of our knowledge, this is the largest cohort study to date involving PRES in children. Acute symptoms in pediatric patients are similar to those reported in adults, but altered consciousness was more frequent in children. Lesional ADC reduction in the acute period was common and was a good predictor of later, irreversible MRI lesions.

DOI： 10.1016/j.ejpn.2015.07.005

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記述言語：英語   出版者・発行元：Scientific Reports  

TUBA1A mutations cause a wide spectrum of lissencephaly and brain malformations. Here, we report two patients with severe cortical dysgeneses, one with an extremely thin cerebral parenchyma apparently looking like hydranencephaly and the other with lissencephaly accompanied by marked hydrocephalus, both harbouring novel de novo missense mutations of TUBA1A. To elucidate how the various TUBA1A mutations affect the severity of the phenotype, we examined the capacity of the mutant protein to incorporate into the endogenous microtubule network in transfected COS7 cells by measuring line density using line extraction in an immunofluorescence study. The mutants responsible for severe phenotypes were found to incorporate extensively into the network. To determine how each mutant alters the microtubule stability, we examined cold-induced microtubule depolymerisation in fibroblasts. The depolymerisation of patients' fibroblasts occurred earlier than that of control fibroblasts, suggesting that microtubules bearing mutated tubulins are unstable. Both mutations are predicted to participate in lateral interactions of microtubules. Our data suggest that the TUBA1A mutations disrupting lateral interactions have pronounced dominant-negative effects on microtubule dynamics that are associated with the severe end of the lissencephaly spectrum.

DOI： 10.1038/srep15165

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記述言語：英語   出版者・発行元：Brain and Development  

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.

DOI： 10.1016/j.braindev.2014.07.006

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Brain and Development  

Objective: To develop a score that predicts the prognosis of children with acute necrotizing encephalopathy (ANE). Method: We retrospectively evaluated clinical variables and neurological outcome in two cohorts of children with ANE. Firstly, we developed the ANE severity score (ANE-SS) according to the clinical variables that correlated with neurological outcome in 41 children who were included in our previous reports in 2009. We then applied the scoring system to a second cohort of 32 patients who were newly collected in 2011. We investigated the correlation between the ANE-SS and neurological outcome in all 73 patients. Results: In the first cohort, brain stem lesions on MRI and state of shock at onset were significantly correlated with outcome. Age over 48. months, elevated CSF protein, and low platelet counts tended to be correlated with outcome. No types of treatment were correlated with outcome. The developed ANE-SS ranged from 0 to 9 points, with 3 points for existence of shock, 2 points for brain stem lesions, 2 points for age over 48. months, 1 point for platelet count below 100,000/μL, and 1 point for CSF protein above 60. mg/dl. Patients were classed as low risk (ANE-SS 0-1 points), medium risk (ANE-SS 2-4 points), or high risk (ANE-SS 5-9 points). ANE-SS was significantly correlated with outcome in the group of 73 patients. Conclusion: ANE-SS can be used to predict outcome in patients with ANE. More effective treatments need to be developed for high-risk patients.

DOI： 10.1016/j.braindev.2014.05.007

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開催年月日： 2022年11月

記述言語：日本語   会議種別：シンポジウム・ワークショップ パネル（指名）  

開催地：京都   国名：日本国  

開催年月日： 2022年6月

記述言語：日本語   会議種別：口頭発表（一般）  

開催地：高崎   国名：日本国  

開催年月日： 2021年12月

記述言語：日本語   会議種別：公開講演，セミナー，チュートリアル，講習，講義等  

開催地：仙台   国名：日本国  

開催年月日： 2021年12月

記述言語：日本語   会議種別：シンポジウム・ワークショップ パネル（指名）  

開催地：仙台   国名：日本国  

開催年月日： 2021年9月

記述言語：日本語   会議種別：ポスター発表  

開催地：名古屋   国名：日本国  

開催年月日： 2021年9月

記述言語：日本語   会議種別：シンポジウム・ワークショップ パネル（指名）  

開催地：名古屋   国名：日本国  

開催年月日： 2021年5月

記述言語：日本語   会議種別：ポスター発表  

開催地：福岡   国名：日本国