Abstract:
:Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No delay in the developmental milestones was seen, and no neurological abnormalities were observed during the interictal period. Interictal electroencephalography was normal in both infants. However, the diffusion-weighted images showed abnormal high intensities in both the genu and splenium in one patient and in the splenium only in the other. No diffusion abnormalities were observed in follow-up magnetic resonance imaging. The clustered seizures may be related to the transient callosal lesions seen in our patients.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Okumura A,Abe S,Hara S,Aoyagi Y,Shimizu T,Watanabe Kdoi
10.1016/j.braindev.2009.04.010subject
Has Abstractpub_date
2010-08-01 00:00:00pages
564-6issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(09)00137-5journal_volume
32pub_type
杂志文章abstract::Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.05.010
更新日期:2018-10-01 00:00:00
abstract::We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.01.010
更新日期:2013-09-01 00:00:00
abstract::Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.07.008
更新日期:2009-06-01 00:00:00
abstract::We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.013
更新日期:2007-06-01 00:00:00
abstract::We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.07.013
更新日期:2011-06-01 00:00:00
abstract:AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.10.002
更新日期:2016-04-01 00:00:00
abstract::CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.02.008
更新日期:2020-06-01 00:00:00
abstract::Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.09.003
更新日期:2010-09-01 00:00:00
abstract:INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.07.003
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)90006-4
更新日期:2003-12-01 00:00:00
abstract::Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within...
journal_title:Brain & development
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::We reported a 2-year-old boy with Lennox-Gastaut syndrome, of which the cause could be an adverse effect of further attenuated live (FL) measles vaccine. The pre- and peri-natal histories of the patient were uneventful, except that he was one of monozygotic twins. He had developed normally until 24 months of life, whe...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00076-5
更新日期:1999-12-01 00:00:00
abstract::In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(02)00228-0
更新日期:2003-06-01 00:00:00
abstract::Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.014
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVES:Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain development. Deficits in serotonin synthesis and abnormal neurogenesis were sh...
journal_title:Brain & development
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.braindev.2017.01.012
更新日期:2017-06-01 00:00:00
abstract::Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.016
更新日期:2010-04-01 00:00:00
abstract::Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90128-7
更新日期:1994-09-01 00:00:00
abstract::Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80008-1
更新日期:1988-01-01 00:00:00
abstract::Penicillin (PC) neurotoxicity (convulsions and encephalopathy) is considered to be due to GABAergic inhibition. The effects of penicillin G(PCG) on [3H]flunitrazepam (FNZ) binding in rat neuron-enriched primary cultures was examined to assess the role of the benzodiazepine (BDZ) receptor in the neurotoxicity. PCG appl...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90121-n
更新日期:1993-09-01 00:00:00
abstract::The effects of drug on the cholinergic system (atropine and physostigmine) were evaluated in acute tests in 12 infant patients with the West syndrome (WS) and in 12 older ones who had suffered from WS at typical ages, displaying various types of epileptic symptoms. In both groups paroxysmal EEG activity was inhibited ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80008-8
更新日期:1990-01-01 00:00:00
abstract::l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are believed to be caused by the toxicity of the accumulation of l-2-hydrox...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.04.012
更新日期:2016-01-01 00:00:00
abstract::The purpose of this study is to elucidate the interrelation between the M and F wave characteristics of the median nerve and the grip power in patients with spinal muscular atrophy (SMA). The SMA patients showed decreased amplitudes of the M and F waves, decreased frequency of the F wave, and an increase of the F/M ra...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00098-3
更新日期:1998-01-01 00:00:00
abstract::Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(12)80198-7
更新日期:1990-01-01 00:00:00
abstract::We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.02.002
更新日期:2006-09-01 00:00:00
abstract::We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.12.008
更新日期:2004-10-01 00:00:00
abstract::Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy 1 or 2 weeks later. We report herein on severe neurological complications of CSD c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.11.001
更新日期:2007-07-01 00:00:00
abstract:BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.06.005
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. CASE DESCRIPTION:A 12 year old girl, presented with history of fever for 10 days, painful swe...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.07.016
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.07.008
更新日期:2021-01-01 00:00:00
abstract::To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80123-9
更新日期:1991-01-01 00:00:00