Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania
Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related clinical practice for DMD among the local experts. In 2015, we conducted a DMD expert survey in Asia and Oceania to acquire information regarding patients with DMD and to assess current clinical practice with the cooperation of Asian and Oceanian Myology Centre, a neuromuscular disease research network. (Source: Brain and Development)
Source: Brain and Development - January 21, 2020 Category: Neurology Authors: Fumi Takeuchi, Harumasa Nakamura, Naohiro Yonemoto, Hirofumi Komaki, Raymond L. Rosales, Andrew J. Kornberg, Allan H. Bretag, Charungthai Dejthevaporn, Khean Jin Goh, Yuh-Jyh Jong, Dae-Seong Kim, Satish V. Khadilkar, Dingguo Shen, Kum Thong Wong, Josiah C Tags: Original article Source Type: research

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15
We present a girl with severe intellectual disability, developmental delay, distinctive facial features, and other neuropsychiatric features. Trio whole exome sequencing revealed a novel homozygous frameshift variant in AP4E1 [NM_007347.5:c.2412dupT:p.(Gly805Trpfs*8)] and uniparental isodisomy of chromosome 15 [iUPD(15)]. Single nucleotide polymorphism mapping analysis of exome data showed that the homozygous AP4E1 variant was derived from her heterozygous carrier father and unmasked by paternal iUPD(15). (Source: Brain and Development)
Source: Brain and Development - January 16, 2020 Category: Neurology Authors: Hiroaki Murakami, Tomoko Uehara, Yoshinori Tsurusaki, Yumi Enomoto, Yukiko Kuroda, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa Tags: Case Report Source Type: research

Discrepancy between musical ability and language skills in children with Williams syndrome
Children with Williams syndrome (WS) show a marked interest in music, a characteristic often explored in clinical settings. However, the actual musical abilities of patients with WS remain debatable due to some of the relevant data being derived from experimental tasks that require a verbal response, despite the known language impairments in WS. The present study aimed to examine musical ability in children with WS using a newly invented pitch discrimination task with minimal involvement of language and clarify its relationship with language skill. (Source: Brain and Development)
Source: Brain and Development - January 13, 2020 Category: Neurology Authors: Yuzuki Kitamura, Yosuke Kita, Yasuko Okumura, Yoshimi Kaga, Hideyuki Okuzumi, Yuji Ishikawa, Miho Nakamura, Masumi Inagaki Tags: Original article Source Type: research

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria
We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by severe ventricular dilatation, follow-up magnetic resonance imaging (MRI) findings from one year later, and the clinical manifestations, neuropsychological scores, genetic test results, urine and blood laboratory results and evolution of the disorder. (Source: Brain and Development)
Source: Brain and Development - January 13, 2020 Category: Neurology Authors: Bin Guo, Linfeng Yang, Xue Li, Xiangyu Liu, Xinhong Wei, Lingfei Guo Tags: Case Report Source Type: research

POLR3A variants in striatal involvement without diffuse hypomyelination
Biallelic variants in POLR3A encoding the largest subunit of RNA polymerase III cause POLR3-related (or 4H) leukodystrophy characterized by neurologic dysfunction, abnormal dentition, endocrine abnormalities and ocular abnormality. Recently, whole-exome sequencing enabled the discovery of POLR3A variants in cases lacking diffuse hypomyelination, the principal MRI phenotype of POLR3-related leukodystrophy. Homozygous c.1771-6C  > G variants in POLR3A were recently suggested to cause striatal and red nucleus involvement without white matter involvement. (Source: Brain and Development)
Source: Brain and Development - January 13, 2020 Category: Neurology Authors: Takuya Hiraide, Kazuo Kubota, Yu Kono, Seiji Watanabe, Tomoko Matsubayashi, Mitsuko Nakashima, Tadashi Kaname, Toshiyuki Fukao, Nobuyuki Shimozawa, Tsutomu Ogata, Hirotomo Saitsu Tags: Case Report Source Type: research

Increased levels of NLRP3 in children with febrile seizures
This study aimed to investigate the role of NLRP3 in FS. (Source: Brain and Development)
Source: Brain and Development - January 13, 2020 Category: Neurology Authors: Zhigang Liu, Huiwen Xian, Xingguang Ye, Jinxi Chen, Yuhua Ma, Weimin Huang Tags: Original article Source Type: research

Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy
To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. (Source: Brain and Development)
Source: Brain and Development - January 2, 2020 Category: Neurology Authors: Sato Suzuki-Muromoto, Rika Kosaki, Kenjiro Kosaki, Masaya Kubota Tags: Case Report Source Type: research

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum
Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. Here, we report a case of a 4-year-old Japanese girl with severe intellectual disability and motor deficits. Brain magnetic resonance imaging showed signal abnormalities in the white matter and thinning of the corpus callosum. Whole-exome sequencing was performed on the proband and her parents, and novel compound heterozygous mutations at c.936_938del (p.Phe313del) and c.1503dup...
Source: Brain and Development - December 31, 2019 Category: Neurology Authors: Naoya Yamaguchi, Kyoko Ban, Atsushi Suzuki, Yuji Nakamura, Kohji Kato, Hideki Muramatsu, Yusuke Okuno, Ayako Hattori, Tadashi Kaname, Yoshiyuki Takahashi, Shinji Saitoh Tags: Case Report Source Type: research

Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid
In July 2018, a rare and serious adverse effect (AE), namely, communicating hydrocephalus unrelated to meningitis or bleeding, was reported in relation to five patients treated with nusinersen for spinal muscular atrophy (SMA). Some patients were managed using a ventriculo-peritoneal shunt (VPS) implant and continued to receive nusinersen treatment. However, there is limited information concerning the effectiveness and safety of nusinersen treatment for patients with a VPS. (Source: Brain and Development)
Source: Brain and Development - December 28, 2019 Category: Neurology Authors: Takenori Tozawa, Takashi Kasai, Harutsugu Tatebe, Kozue Shiomi, Hisahide Nishio, Takahiko Tokuda, Tomohiro Chiyonobu Tags: Case Report Source Type: research

Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder
Autosomal recessive PRUNE1 mutations on chromosome 1q21.3 are reported to cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations. Here, we report a Japanese case with a reported PRUNE1 mutation whose brain magnetic resonance imaging (MRI) showed specific imaging findings that have not been reported before. The patient was a 12-month-old girl, the first child of healthy and nonconsanguineous Japanese parents. She showed global developmental delay, intellectual disability, hypotonia, spastic quadriparesis, and hyperreflexia. (Source: Brain and Development)
Source: Brain and Development - December 24, 2019 Category: Neurology Authors: Hiroyuki Fujii, Noriko Sato, Jun-ichi Takanashi, Yukio Kimura, Emiko Morimoto, Yoko Shigemoto, Fumio Suzuki, Masayuki Sasaki, Hideharu Sugimoto Tags: Case Report Source Type: research

Development of a movement questionnaire adapted for Japanese culture for elementary school children
Current tools to evaluate Developmental Coordination Disorder (DCD) symptoms are not adapted to Japanese cultural and educational contexts. We aimed to develop a new tool, the Developmental Coordination Disorder Checklist (DCDC), that can be applied specifically to elementary school –aged children in Japan, by generating a list of culturally relevant items. (Source: Brain and Development)
Source: Brain and Development - December 19, 2019 Category: Neurology Authors: Ryusaku Hashimoto, Keitaro Sueda, Kazuyori Yagyu Tags: Original article Source Type: research

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration
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. (Source: Brain and Development)
Source: Brain and Development - December 16, 2019 Category: Neurology Authors: Masahiro Kawaguchi, Takayuki Sassa, Hiroyuki Kidokoro, Tomohiko Nakata, Kohji Kato, Hideki Muramatsu, Yusuke Okuno, Hiroyuki Yamamoto, Tadashi Kaname, Akio Kihara, Jun Natsume Tags: Case Report Source Type: research

d-Glycerate kinase deficiency in a neuropediatric patient
We describe a Moroccan patient with DGKD whose metabolic defect has been characterized by metabolite studies, sequencing of genomic DNA and by studies on the RNA level. Since birth the index patient presented with severe muscular hypotonia, joint hypermobility and tremor. Enantioselective analysis showed elevated d-glyceric acid in the urine of the patient, but not in that of his parents. (Source: Brain and Development)
Source: Brain and Development - December 16, 2019 Category: Neurology Authors: J örn Oliver Sass, Sidney Behringer, Malkanthi Fernando, Elisabetta Cesaroni, Ida Cursio, Alberto Volpini, Claudia Till Tags: Case Report Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - December 14, 2019 Category: Neurology Source Type: research

Dr. Frederick Andermann
(Source: Brain and Development)
Source: Brain and Development - December 14, 2019 Category: Neurology Source Type: research

Announcements and reports
(Source: Brain and Development)
Source: Brain and Development - December 14, 2019 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - December 14, 2019 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - December 14, 2019 Category: Neurology Source Type: research

Serum matrix metallopeptidase-9 and tissue inhibitor of metalloproteinase-1 levels in autoimmune encephalitis
In this study, we aimed to evaluate the association of serum matrix metallopeptidase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1) levels with the neurological prognosis of AE. (Source: Brain and Development)
Source: Brain and Development - December 13, 2019 Category: Neurology Authors: Ryuki Matsuura, Shin-ichiro Hamano, Atsuro Daida, Hazuki Nonoyama, Jun Kubota, Satoru Ikemoto, Yuko Hirata, Reiko Koichihara, Kenjiro Kikuchi, Akira Yamaguchi, Hiroshi Sakuma, Yukitoshi Takahashi Tags: Original article Source Type: research

A case of juvenile Canavan disease with distinct pons involvement
Canavan disease is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of the white matter. Its key clinical features in the infantile form are developmental delay, visual problems and macrocephaly. Congenital and juvenile forms have also been described. (Source: Brain and Development)
Source: Brain and Development - December 12, 2019 Category: Neurology Authors: Nafiye Emel Çakar, Tuğçe Aksu Uzunhan Tags: Case Report Source Type: research

Change of centrotemporal spikes from onset to remission in self-limited epilepsy with centrotemporal spikes (SLECTS)
To reveal the changes of centrotemporal spikes that occur during the disease course of self-limited epilepsy with centrotemporal spikes (SLECTS). (Source: Brain and Development)
Source: Brain and Development - December 5, 2019 Category: Neurology Authors: Ji Yeon Han, Sun Ah Choi, Yoon Gi Chung, Young Kyu Shim, Woo Joong Kim, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim Tags: Original article Source Type: research

Effects of valproic acid and levetiracetam monotherapy on carotid intima-media and epicardial adipose tissue thickness in non-obese children with epilepsy
The aim of the study was to investigate the risk of subclinical atherosclerosis independent from obesity and high blood lipid levels in pediatric patients with idiopathic epilepsy receiving valproic acid or levetiracetam monotherapy by evaluating carotid intima-media thickness (CIMT) and Epicardial adipose tissue thickness (EATT). (Source: Brain and Development)
Source: Brain and Development - December 2, 2019 Category: Neurology Authors: Elif Karatoprak, Oyku Tosun Tags: Original article Source Type: research

Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessively inherited inborn error of metabolism, caused by mutation in SUOX gene. ISOD has two kind of presentation; early and late-onset. The late-onset form is extremely rare and only 10 cases have been reported. (Source: Brain and Development)
Source: Brain and Development - December 2, 2019 Category: Neurology Authors: Indar Kumar Sharawat, Lokesh Saini, Bhanudeep Singanamala, Arushi Gahlot Saini, Jitendra Kumar Sahu, Savita Verma Attri, Naveen Sankhyan Source Type: research

Serum and cerebrospinal fluid cytokines in children with acute encephalopathy
The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. (Source: Brain and Development)
Source: Brain and Development - November 28, 2019 Category: Neurology Authors: Yuta Kawahara, Akira Morimoto, Yukiko Oh, Rieko Furukawa, Kei Wakabayashi, Yukifumi Monden, Hitoshi Osaka, Takanori Yamagata Tags: Original article Source Type: research

Children with autism spectrum disorder comorbid with attention-deficit/hyperactivity disorder examined by the Wisconsin card sorting test: Analysis by age-related differences
This study investigated the executive function of ASD comorbid with ADHD (ASD  + ADHD), ASD, and typically developed (TD) children using the Keio version of the modified Wisconsin card sorting test (KWCST). Children with ASD + ADHD (n = 43), ASD (n = 69), and TD (n = 69) were examined in two age groups: 5–9 years and 10–15 years. Both of the younger clinical g roups showed significantly unfavorable scores for many indices in the second step compared to the TD group. (Source: Brain and Development)
Source: Brain and Development - November 27, 2019 Category: Neurology Authors: Yoko Kado, Satoshi Sanada, Shigeru Oono, Tatsuya Ogino, Shin Nouno Tags: Original article Source Type: research

Atypical gamma functional connectivity pattern during light sleep in children with attention deficit hyperactivity disorder
We examined functional connectivity analyses in electroencephalograms (EEGs) of patients with attention deficit hyperactivitydisorder (ADHD) and in those of typically developing children (TDC) to uncover neurobiological abnormalities. (Source: Brain and Development)
Source: Brain and Development - November 22, 2019 Category: Neurology Authors: Riyo Ueda, Hiroshige Takeichi, Yoshimi Kaga, Masayoshi Oguri, Yoshihiko Saito, Eiji Nakagawa, Yoshihiro Maegaki, Masumi Inagaki Source Type: research

Phenotype –genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms
We report the first three Japanese patients with missense variants in the GNB1 gene. Patients exhibited severe dyskinetic quadriplegia with cortical blindness and epileptic spasms, West syndrome (but with good outcomes), and hypotonic quadriplegia that later developed into spastic diplegia. Whole-exome sequencing revealed two recurrent GNB1 variants (p.Leu95Pro and p.Ile80Thr) and one novel variant (p.Ser74Leu). A recent investigation revealed large numbers of patients with GNB1 variants. Functional studies of such variants and genotype –phenotype correlation are required to enable future precision medicine. (Source:...
Source: Brain and Development - November 14, 2019 Category: Neurology Authors: Wakaba Endo, Satoru Ikemoto, Noriko Togashi, Takuya Miyabayashi, Erika Nakajima, Shin-ichiro Hamano, Moriei Shibuya, Ryo Sato, Yusuke Takezawa, Yukimune Okubo, Takehiko Inui, Mitsuhiro Kato, Toru Sengoku, Kazuhiro Ogata, Kohei Hamanaka, Takeshi Mizuguchi, Tags: Case Report Source Type: research

Analysis of spinal muscular atrophy-like patients by targeted resequencing
Several effective therapies have been developed for spinal muscular atrophy (SMA), but there are multiple diseases that show SMA-like symptoms, necessitating efficient differential genetic diagnostic methods. Advancements in next-generation sequencing (NGS) technology have facilitated the successful diagnosis of many undiagnosed genetic diseases. Here, we applied NGS along with conventional methods for the molecular diagnosis of undiagnosed patients with lower motor neuron (LMN) symptoms who were initially suspected to have SMA. (Source: Brain and Development)
Source: Brain and Development - November 13, 2019 Category: Neurology Authors: Shinichi Hosokawa, Yuji Kubo, Reiko Arakawa, Hiroshi Takashima, Kayoko Saito Tags: Original article Source Type: research

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined
Coffin –Siris syndrome (CSS) is a neurodevelopmental disorder characterized by somatic dysmorphic features, developmental and speech delay. It is due to mutations in many different genes, belonging to BAF chromatin-remodelling complex. The last gene involved in this complex, recently individuated and rel ated to CSS, was DPF2, although only nine patients have been reported until now. (Source: Brain and Development)
Source: Brain and Development - November 6, 2019 Category: Neurology Authors: Roberta Milone, Maria Gnazzo, Elena Stefanutti, Dorella Serafin, Antonio Novelli Tags: Case Report Source Type: research

PIGA related disorder as a range of phenotypes rather than two distinct subtypes
Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the possibility of a phenotypic spectrum associated with PIGA disorder.In order to further characterize this phenotypic spectrum, we present two patients with features of both the severe and less severe subtypes with a review of phenotypes reported to date in the literature. (Source: Brain and Development)
Source: Brain and Development - November 5, 2019 Category: Neurology Authors: Shelby J. Cash, Brooklyn P. Mcgue, Tamara S. Reynolds, Erin R. Crist Tags: Case Report Source Type: research

Safety and immediate effects of Hybrid Assistive Limb in children with cerebral palsy: A pilot study
Early intervention is effective for developing motor ability and preventing contractures and deformities in patients with cerebral palsy (CP). Gait training using the newly developed Hybrid Assistive Limb (HAL) shows promise as an intervention to prevent deterioration in walking ability and deformities in pediatric CP patients. The purpose of this pilot study was to examine the safety and immediate effects on walking ability after gait training using the HAL in pediatric CP patients. (Source: Brain and Development)
Source: Brain and Development - November 5, 2019 Category: Neurology Authors: Shogo Nakagawa, Hirotaka Mutsuzaki, Yuki Mataki, Yusuke Endo, Mayumi Matsuda, Kenichi Yoskikawa, Hiroshi Kamada, Nobuaki Iwasaki, Masashi Yamazaki Tags: Original article Source Type: research

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. (Source: Brain and Development)
Source: Brain and Development - October 31, 2019 Category: Neurology Authors: Luciana Midori Inuzuka, L úcia Inês Macedo-Souza, Bruno Della-Ripa, Katiane S.S. Cabral, Fabiola Monteiro, João Paulo Kitajima, Luis Filipe de Souza Godoy, Daniel de Souza Delgado, Fernando Kok, Eliana Garzon Tags: Case Report Source Type: research

The effects of antihistamine on the duration of the febrile seizure: A single center study with a systematic review and meta-analysis
Several studies have investigated the potential effects of antihistamines on febrile seizure. However, these findings are inconsistent across the studies. (Source: Brain and Development)
Source: Brain and Development - October 31, 2019 Category: Neurology Authors: Ryo Sugitate, Yusuke Okubo, Hiroki Nariai, Atsushi Matsui Tags: Review article Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - October 30, 2019 Category: Neurology Source Type: research

Announcements and Reports
(Source: Brain and Development)
Source: Brain and Development - October 30, 2019 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - October 30, 2019 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - October 30, 2019 Category: Neurology Source Type: research

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants
Dravet syndrome (DS) is characterized by high epilepsy-related premature mortality with a markedly young age at death, however, autopsy report of sudden unexpected death with DS has been fewer than expected. (Source: Brain and Development)
Source: Brain and Development - October 30, 2019 Category: Neurology Authors: Yukiko Hata, Yuko Oku, Hiromichi Taneichi, Tomomi Tanaka, Noboru Igarashi, Yo Niida, Naoki Nishida Tags: Original article Source Type: research

New Year ’s Greetings 2020
We wish a Happy New Year 2020 to the readers of Brain& Development, an official journal of the Japanese Society of Child Neurology. (Source: Brain and Development)
Source: Brain and Development - October 15, 2019 Category: Neurology Authors: Katsuhiro Kobayashi Tags: Editorial Source Type: research

Support and development of autistic children with selective eating habits
We provided 3 special diets to 40 preschool children with autism at lunchtime and detected improvements in diet-related issues in almost all of the children. The children fell into the following 3 groups: those who selected their diet based on: group1  = sensory factors; group2 = visual appearance of foods; and group3 = familiar foods. To identify effective support, we performed developmental and sensory assessments of each group retrospectively. (Source: Brain and Development)
Source: Brain and Development - October 10, 2019 Category: Neurology Authors: Kiyoko Yamane, Yoko Fujii, Nozomi Hijikata Tags: Original article Source Type: research

Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency
An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4  years of age, and had been managed with protein restriction combined with sodium benzoate therapy. Though the treatment was successful in ameliorating hyperammonemia, hyperargininemia persisted. After being under control with a strict restriction of dietary protein, severe fall of serum albumin l evels appeared and her condition became strikingly worsened. However, after sodium phenylbutyrate (NaPB) therapy was initiated, the clinical condition and metabolic stability was greatly improved. (Source: Brain and Development)
Source: Brain and Development - October 8, 2019 Category: Neurology Authors: Mayumi Matsufuji, Eiko Takeshita, Masayuki Nakashima, Yoriko Watanabe, Kaori Fukui, Toshio Hanai, Hiromi Ishibashi, Sachio Takashima Tags: Case Report Source Type: research

The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan
To investigate the effect of guidelines for management of febrile seizures on the clinical practice, we conducted a nationwide survey in Japan. (Source: Brain and Development)
Source: Brain and Development - October 8, 2019 Category: Neurology Authors: Masaharu Tanaka, Jun Natsume, Shin-ichiro Hamano, Kuniaki Iyoda, Hideaki Kanemura, Masaya Kubota, Masakazu Mimaki, Shin-ichi Niijima, Takuya Tanabe, Harumi Yoshinaga, Noriko Kojimahara, Hirofumi Komaki, Kenji Sugai, Tokiko Fukuda, Yoshihiro Maegaki, Hideo Tags: Original article Source Type: research

Comparison of mild encephalopathy with reversible splenial lesion with and without acute focal bacterial nephritis
This study aimed to clarify the clinical features of MERS with AFBN. (Source: Brain and Development)
Source: Brain and Development - October 4, 2019 Category: Neurology Authors: Yuta Maruyama, Masanori Sato, Yuji Inaba, Tetsuhiro Fukuyama Tags: Original article Source Type: research

Cerebral white matter lacerations in children caused by repetitive head trauma
We report three teenage boys (11, 12, and 18 years at final MRI studies) with acquired WM lacerations associated with recurrent head trauma who developed neurologic symptoms such as spastic paralysis, afebrile convulsions, and cognitive impairment. Two of them (patients 1 and 2) were given a diagnosis of autism spectrum disorder and had a history of repeated severe self-inflicted head trauma from preschool age. (Source: Brain and Development)
Source: Brain and Development - September 25, 2019 Category: Neurology Authors: Yuka Murofushi, Kimiko Hosoyama, Kazuo Kubota, Noriko Sato, Yuji Takahashi, Jun-ichi Takanashi Tags: Case Report Source Type: research

Japanese encephalitis-induced anti-N-methyl-d-aspartate receptor encephalitis: A hospital-based prospective study
A hospital-based prospective study was performed to determine: 1) whether Japanese encephalitis (JE) normally triggers anti-N-methyl-d-aspartate receptor (NMDAR) immunoglobulin G (IgG) synthesis, especially in monophasic JE patients; and 2) the incidence of JE-induced anti-NMDAR encephalitis in pediatric patients with JE. (Source: Brain and Development)
Source: Brain and Development - September 25, 2019 Category: Neurology Authors: By Jiannan Ma, Wei Han, Jiang Li Tags: Original article Source Type: research

High-frequency component in flash visual evoked potentials in type 3 Gaucher disease
To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progressive myoclonus epilepsy. (Source: Brain and Development)
Source: Brain and Development - September 24, 2019 Category: Neurology Authors: Masayoshi Oguri, Yoshiaki Saito, Tohru Okanishi, Yuka Matuura, Shota Akiyama, Takuya Ikeguchi, Aya Narita, Yasuaki Hirooka, Yoshihiro Maegaki Source Type: research

Reply to the letter: “Acute encephalopathy with brain swelling”
We would like to thank Priyanka Madaan and Lokesh Saini for contributing their opinions about our article. After a recent nationwide survey in Japan, we know that acute encephalopathy can be classified into two major categories. One is based on the pathogen of the preceding infection and the other is based on clinical, laboratory, imaging, and pathological findings of encephalopathy [1,2]. (Source: Brain and Development)
Source: Brain and Development - September 20, 2019 Category: Neurology Authors: Megumi Nukui, Hisashi Kawawaki, Takeshi Inoue, Ichiro Kuki, Shin Okazaki, Kiyoko Amo, Masao Togawa, Junichi Ishikawa, Hiroshi Rinka, Masashi Shiomi Tags: Reply Source Type: research

Life-threatening muscle complications of COL4A1-related disorder
We report the case of a 2-year-old boy with porencephaly, who harbored a de novo COL4A1 mutation of c.1853G  > A, p. (Gly618Glu) and exhibited recurrent rhabdomyolysis with viral or bacterial infections. Moreover, he developed obstructive hypertrophic cardiomyopathy which required surgical intervention. (Source: Brain and Development)
Source: Brain and Development - September 18, 2019 Category: Neurology Authors: Satomi Okano, Sorachi Shimada, Ryosuke Tanaka, Akie Okayama, Aya Kajihama, Nao Suzuki, Koichi Nakau, Satoru Takahashi, Naomichi Matsumoto, Hirotomo Saitsu, Jantima Tanboon, Ichizo Nishino, Hiroshi Azuma Tags: Case Report Source Type: research

Childhood-onset multifocal motor neuropathy with IgM antibodies to GM2 and GalNac-GD1a
Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40  years (range, 20–70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhood-onset MMN in a patient who tested positive for anti-GM2 and anti-GalNac-GD1a immunoglobulin M (IgM) antibodies. (Source: Brain and Development)
Source: Brain and Development - September 12, 2019 Category: Neurology Authors: Hiroshi Maeda, Ryotaro Ishii, Susumu Kusunoki, Tomohiro Chiyonobu Tags: Case Report Source Type: research

Recent treatment patterns and variations for pediatric acute encephalopathy in Japan
This study investigated recent trends in clinical practice patterns for pediatric acute encephalopathy at a national level. (Source: Brain and Development)
Source: Brain and Development - September 12, 2019 Category: Neurology Authors: Itaru Hayakawa, Yusuke Okubo, Hiroki Nariai, Nobuaki Michihata, Hiroki Matsui, Kiyohide Fushimi, Hideo Yasunaga Tags: Original article Source Type: research