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Brain & Development

Kenji Yamada, Michinori Ito, Hironori Kobayashi, Yuki Hasegawa, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classically caused by a congenital defect in electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). Flavin adenine dinucleotide synthase (FADS) deficiency caused by mutations in FLAD1 was recently reported as a novel riboflavin metabolism disorder resembling MADD. Here, we describe a Japanese boy with FADS deficiency due to a novel mutation (p.R249*) in FLAD1. In the asymptomatic male infant born at full term, newborn screening showed positive results with elevated C5 and C14:1 acylcarnitine levels and an increased C14:1/C2 ratio...
April 11, 2019: Brain & Development
Jung Min Ko, Woo Joong Kim, Soo Yeon Kim, Jun Hwa Lee, Jong Hee Chae, Ki Joong Kim, Byung Chan Lim
Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of anti-NMDAR encephalitis; this patient showed subsequent recurrent, unexplained episodes of encephalopathy associated with hyperammonemia. The patient was diagnosed with lysinuric protein intolerance (LPI), a rare inborn metabolic disorder...
April 5, 2019: Brain & Development
Yuichi Takami, Taku Nakagawa
OBJECTIVE: This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS: A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Patients with CwG who had experienced two or more seizures were eligible. Patients were excluded if any anticonvulsant was used before enrollment. Patients who were allocated to the PB group were administered 10 mg/kg of PB intravenously...
April 3, 2019: Brain & Development
Robertino Dilena, Paola De Liso, Matteo Di Capua, Dario Consonni, Giuseppe Capovilla, Francesco Pisani, Agnese Suppiej, Giovanna Vitaliti, Raffaele Falsaperla, Dario Pruna
BACKGROUND: A targeted treatment approach is increasingly promoted in epilepsy management. AIM: To investigate if etiology (both established or initially presumed) influences antiepileptic drug choice of experts in neonatal seizures. METHODS: An invitation to participate to a web-based questionnaire was sent to Italian pediatric neurologists affiliated to the Italian Society of Pediatric Neurology (SINP). RESULTS: 19 pediatric neurologists from different centers, all consultants of third level Neonatal Intensive Care Units (NICUs) answered...
April 3, 2019: Brain & Development
Yan Xiang, Hua Han, Shengfeng Ji, Liang Wei, Pengbo Yang, Junfeng Zhang
BACKGROUNDS: Metabotropic glutamate receptors, besides ionotropic receptors, mediate the complicated effect of glutamate on neurogenesis. Previous studies showed that metabotropic glutamate receptor 4 (mGluR4) regulated the proliferation and differentiation of neural stem/progenitor cells in vitro. However, little is known about the expression pattern of mGluR4 on prenatal central nervous system in vivo, especially the human being. METHODS: The normal brain tissues of human fetus were collected and divided into 4 groups according to the gestational age: 9-11 W, 14-16 W, 22-24 W and 32-36 W...
April 3, 2019: Brain & Development
Ali Mir, Mohammed Chaudhary, Hani Alkhaldi, Rami Alhazmi, Raidah Albaradie, Yousef Housawi
OBJECTIVE: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases. METHODS: Retrospective chart review was done to collect patient data...
April 2, 2019: Brain & Development
Josef Finsterer
No abstract text is available yet for this article.
April 2, 2019: Brain & Development
Akira Yasumura, Mikimasa Omori, Ayako Fukuda, Junichi Takahashi, Yukiko Yasumura, Eiji Nakagawa, Toshihide Koike, Yushiro Yamashita, Tasuku Miyajima, Tatsuya Koeda, Masao Aihara, Masumi Inagaki
BACKGROUND: The neural correlates of executive function disorders are thought to be predominantly localized within the prefrontal cortex (PFC). However, no study to date has investigated changes in this system across different age groups in children with attention deficit hyperactivity disorder (ADHD). Thus, this study aimed to explore changes in PFC function in children with ADHD. METHODS: Study participants included typically developing (TD) children (n = 140) and children with ADHD (n = 67) of primary school age...
April 2, 2019: Brain & Development
Tomoki Maeda
No abstract text is available yet for this article.
March 29, 2019: Brain & Development
Tsukasa Tanaka, Hiroaki Nagase, Hiroshi Yamaguchi, Yusuke Ishida, Kazumi Tomioka, Masahiro Nishiyama, Daisaku Toyoshima, Azusa Maruyama, Kyoko Fujita, Kandai Nozu, Noriyuki Nishimura, Hiroshi Kurosawa, Ryojiro Tanaka, Kazumoto Iijima
BACKGROUND: Seizures and/or impaired consciousness accompanied by fever without known etiology (SICF) is common in the pediatric emergency setting. No optimal strategy for the management of SICF in childhood currently exists. We previously demonstrated the effectiveness of targeted temperature management (TTM) against SICF with a high risk of morbidity; however, some patients with SICF develop neurological sequelae despite TTM, which necessitate additional neuroprotective treatment. The clinical characteristics of these severe cases have not been studied...
March 28, 2019: Brain & Development
Mahesh Kamate, Mayank Detroja, Virupaxi Hattiholi
Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL type 11 was first described in 2014 in two siblings as adult-onset NCL and was found to be due to a homozygous progranulin gene mutation. These siblings had progressive retinopathy, recurrent generalized seizures, moderate ataxia and subtle cognitive dysfunction...
March 25, 2019: Brain & Development
Alessandra Carvalho, Carlos Brites, Ganeshwaran Mochida, Paloma Ventura, Adriana Fernandes, Maria Lúcia Lage, Tânia Taguchi, Ivar Brandi, Alfredo Silva, Giulia Franceschi, Pedro Lucena, Rita Lucena
OBJECTIVE: To describe the neurological and neurodevelopmental features at 1 year of age in children with cerebral palsy (CP) related to probable congenital Zika (CZ), followed in a referral neurorehabilitation hospital. METHODS: Data on 82 children with CP associated with probable CZ, who consecutively attended the neurodevelopmental and neurological assessment around one year of age, were collected. For neurodevelopmental evaluation, Bayley-III Scales of Infant and Toddler Development was used...
March 23, 2019: Brain & Development
Aya Hashimoto, Ichiro Kuki, Masataka Fukuoka, Kiyohiro Kim, Takeshi Inoue, Megumi Nukui, Shin Okazaki, Hisashi Kawawaki, Yuji Nakamura, Shinji Saitoh
BACKGROUND: Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome. METHODS: After febrile illnesses at 7 months of age, and again at 22 months of age, the boy had a reduced level of consciousness, truncal ataxia and eye movement-disorders...
March 20, 2019: Brain & Development
Maoling Yang, Nong Xiao, Shuang Chen, Wei Jiang
BACKGROUND: This study aimed to analyze clinical and imaging features of children with severe Japanese encephalitis (JE), and to analyze causes and solutions for psychiatric symptoms of JE during the convalescent period. METHODS: We analyzed clinical information for 78 children with severe JE at the Department of Neurology, Department of Infection, and Department of Rehabilitation in our hospital during 2014-2016. Seventy-eight cases of severe JE were divided into patients with psychiatric symptoms and no psychiatric symptoms groups...
March 19, 2019: Brain & Development
Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani
BACKGROUND: Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation. CASE REPORT: The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy...
March 18, 2019: Brain & Development
Lokesh Saini, Priyanka Madaan, M R Rudresh Naik
No abstract text is available yet for this article.
March 12, 2019: Brain & Development
Akihisa Okumura, Harushi Mori
No abstract text is available yet for this article.
March 11, 2019: Brain & Development
Kana Okazaki Fukui, Masaya Kubota, Hiroshi Terashima, Akira Ishiguro, Hirofumi Kashii
BACKGROUND: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most prevalent encephalopathy in Japanese children. AESD is characterized by a prolonged febrile seizure on day 1 followed by secondary seizures and MRI abnormality on days 4-6, resulting in high incidence of neurological sequelae. We aimed to clarify whether early administration of vitamins (vitamin B1, vitamin B6, and l-carnitine) would improve the clinical course of AESD. METHODS: We retrospectively reviewed 34 patients with acute encephalopathy who were admitted to our hospital between January 2009 and August 2016...
March 9, 2019: Brain & Development
Toru Imagi, Tomonaga Matsushita, Miyuki Matsushita, Yukako Yae, Takaoki Yokochi, Go Kawano, Yukihiro Akita, Keizo Ohbu, Toyojiro Matsuishi
Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS until now. Here, we report a case of brain stem infarction in a 6-year-old boy with DS who had no cardiac, renal, or intestinal complications. He exhibited ataxic gait and medial longitudinal fasciculus (MLF) symptoms at first presentation...
March 8, 2019: Brain & Development
Kyoko Hazama, Takashi Shiihara, Hiroyuki Tsukagoshi, Takeshi Matsushige, Yuri Dowa, Mio Watanabe
BACKGROUND: Rhinovirus is a common respiratory pathogen for children throughout the year; nevertheless, its central nervous system involvement is extremely rare, and only two cases have been reported to date: meningitis and sepsis-like illness. PATIENT: A previously healthy 2-year-old Japanese boy developed fever, followed by seizures and lethargy. His cerebrospinal fluid cell count and protein level were slightly increased; brain magnetic resonance imaging showed abnormal intensities in the bilateral cerebellar dentate nuclei, which were prominent in diffusion-weighted images...
March 5, 2019: Brain & Development
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