Abstract:
:Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, was present in a relatively high percentage in the white matter, which showed frontal lobe micropolygyria and diffuse low density on CT and MR T1-imaging.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Izumi T,Hara K,Ogawa T,Osawa M,Saito K,Novo ML,Fukuyama Y,Takashima Sdoi
10.1016/0387-7604(94)00114-dsubject
Has Abstractpub_date
1995-01-01 00:00:00pages
33-7issue
1eissn
0387-7604issn
1872-7131pii
038776049400114Djournal_volume
17pub_type
杂志文章abstract::Here we describe two patients with 5p- syndrome who suffered from epilepsy characterised by stimulus-induced epileptic spasms manifesting as head nodding. In patient 1, a series of spasms were exclusively triggered by eating, and were associated with diffuse high-voltage slow waves on ictal EEG, particularly presentin...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.002
更新日期:2016-02-01 00:00:00
abstract::The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(80)80026-x
更新日期:1980-01-01 00:00:00
abstract::We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00217-6
更新日期:2003-04-01 00:00:00
abstract::Serial changes of MRI scanning of an 11-year-old boy with hemiparesis due to a germ cell tumor in the basal ganglia are presented. Initial brain MRI T1-weighted images revealed a subtle mixed signal intensity lesion at left anterior and posterior limbs of the internal capsule. This lesion was not enhanced with Gd-DTPA...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90024-3
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.03.025
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2013.05.003
更新日期:2013-09-01 00:00:00
abstract::MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.06.013
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.06.011
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.09.014
更新日期:2021-02-01 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::The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80122-4
更新日期:1985-01-01 00:00:00
abstract::This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 m...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2008.07.005
更新日期:2009-06-01 00:00:00
abstract::Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00339-4
更新日期:2001-12-01 00:00:00
abstract::Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.12.014
更新日期:2010-02-01 00:00:00
abstract::Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainst...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80008-9
更新日期:1982-01-01 00:00:00
abstract:INTRODUCTION:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of acute encephalopathy among children in Japan. The pathogenesis of AESD is mostly delayed cerebral edema caused by excitotoxic injury. It is difficult to discriminate AESD and complex febrile seizure ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.07.007
更新日期:2016-02-01 00:00:00
abstract::In order to evaluate the criteria for discontinuing neonatal anticonvulsant treatment, 55 newborns with seizures have been studied. Clinical and EEG serial examinations were performed: soon after the first seizure, throughout the hospital course, and during the follow-up every 3 months until a year, and every 6 months...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80057-6
更新日期:1983-01-01 00:00:00
abstract::The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80017-0
更新日期:1979-01-01 00:00:00
abstract::The objective of the present study was to evaluate sleeping position-dependent effects on cerebral hemodynamics during apnea in preterm infants. To this end, polygraphic studies were performed on 15 stable preterm infants lying prone and lying supine. Changes in cerebral blood volume (DeltaCBV) and in cerebral hemoglo...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(01)00245-5
更新日期:2001-10-01 00:00:00
abstract::Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80066-4
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.03.011
更新日期:2018-08-01 00:00:00
abstract::We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80010-8
更新日期:1984-01-01 00:00:00
abstract::A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80083-x
更新日期:1989-01-01 00:00:00
abstract::Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00023-2
更新日期:2002-04-01 00:00:00
abstract:OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, prol...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.04.009
更新日期:2020-09-01 00:00:00
abstract::We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.06.009
更新日期:2013-05-01 00:00:00
abstract::Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.11.005
更新日期:2005-09-01 00:00:00
abstract::In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of PPRs using optical filters with specific wavelength transmission. I...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00022-3
更新日期:1997-06-01 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:Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.12.010
更新日期:2014-11-01 00:00:00