当前位置： SCI文献检索 > BRAIN & DEVELOPMENT期刊下所有文献 > Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease.

Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease.

Abstract：

:We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and marked swelling in the white matter and basal nucelei of the right hemisphere. Her seizures and right hemisphere lesion improved with glycerol and dexamethasone treatment. When dexamethasone was discontinued, her symptoms worsened and lesions later appeared in the left hemisphere. Her cerebrospinal fluid showed elevated levels of the cytokines TNF-alpha and IL-5. It is considered that inflammation contributes to disease progression in Tay-Sachs disease.

journal_name

Brain Dev

journal_title

Brain & development

authors

Hayase T,Shimizu J,Goto T,Nozaki Y,Mori M,Takahashi N,Namba E,Yamagata T,Momoi MY

doi

10.1016/j.braindev.2009.01.007

subject

Has Abstract

pub_date

2010-03-01 00:00:00

pages

244-7

issue

3

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(09)00055-2

journal_volume

32

pub_type

杂志文章

相关文献

BRAIN & DEVELOPMENT文献大全
  • Respiratory function in handicapped children.

    abstract：:The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(12)80067-2

    authors： Ishida C,Fujita M,Umemoto H,Taneda M,Sanae N,Tazaki T

    更新日期：1990-01-01 00:00:00

  • The natural history of somatic morbidity in disintegrative psychosis and infantile autism: a validation study.

    abstract：:In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(99)00045-5

    authors： Mouridsen SE,Rich B,Isager T

    更新日期：1999-10-01 00:00:00

  • Eye contact and emotional face processing in 6-month-old infants: advanced statistical methods applied to event-related potentials.

    abstract：:Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2009.04.001

    authors： Stahl D,Parise E,Hoehl S,Striano T

    更新日期：2010-04-01 00:00:00

  • Congenital muscular dystrophy (non-Fukuyama type) in Turkey: a clinical and pathological evaluation.

    abstract：:Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution. ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(89)80066-x

    authors： Topaloğlu H,Yalaz K,Renda Y,Kale G,Cağlar M,Göğüş S

    更新日期：1989-01-01 00:00:00

  • Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.

    abstract：:Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus, an opportunistic infection of the central nervous system. Although the majority of cases are infected with the human immunodeficiency virus (HIV), other immunocompromised patients are also at risk. Purine nucleoside phosphorylase...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2006.07.008

    authors： Parvaneh N,Ashrafi MR,Yeganeh M,Pouladi N,Sayarifar F,Parvaneh L

    更新日期：2007-03-01 00:00:00

  • Pharmacokinetics of zonisamide in perinatal period.

    abstract：:Zonisamide is widely used for intractable epilepsy and the effects of this drug on fetuses and neonates through the mother taking it for epilepsy need to be clarified. We measured the zonisamide concentration in plasma and breast milk using high-performance liquid chromatography to investigate the transfer of zonisami...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(01)00407-7

    authors： Kawada K,Itoh S,Kusaka T,Isobe K,Ishii M

    更新日期：2002-03-01 00:00:00

  • Menkes disease: is vitamin C treatment effective?

    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

    authors： Ueki Y,Narazaki O,Hanai T

    更新日期：1985-01-01 00:00:00

  • Electro-clinical-etiological associations of epilepsia partialis continua in 57 Chinese children.

    abstract：OBJECTIVE:Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiologic...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2017.01.011

    authors： Li H,Xue J,Qian P,Zhang Y,Bao X,Liu X,Yang Z

    更新日期：2017-06-01 00:00:00

  • Early development destructive brain lesions and their relationship to epilepsy and hippocampal damage.

    abstract：:Fifty-one consecutive adult patients with epilepsy and early development destructive brain lesions were divided into three main groups according to the topographic distribution of the lesion on magnetic resonance imaging: hemispheric (H) (n=9); main arterial territory (AT) (n=25) and arterial borderzone (Bdz) (n=17). ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(03)00065-2

    authors： Teixeira RA,Li LM,Santos SL,Zanardi VA,Honorato DC,Guerreiro CA,Cendes F

    更新日期：2003-12-01 00:00:00

  • High doses of penicillin decreases [3H]flunitrazepam binding sites in rat neuron primary culture.

    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

    authors： Shiraishi H,Ito M,Go T,Mikawa H

    更新日期：1993-09-01 00:00:00

  • Early neurological phenotype in 4 children with biallelic PRODH mutations.

    abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2007.01.008

    authors： Afenjar A,Moutard ML,Doummar D,Guët A,Rabier D,Vermersch AI,Mignot C,Burglen L,Heron D,Thioulouse E,de Villemeur TB,Campion D,Rodriguez D

    更新日期：2007-10-01 00:00:00

  • Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course.

    abstract：:Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonstrate characteristic clinical features but very little information is available for childhood-onset patients with MuSK-positive MG...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2011.12.014

    authors： Takahashi Y,Sugiyama M,Ueda Y,Itoh T,Yagyu K,Shiraishi H,Ukeba-Terashita Y,Nakanishi M,Nagashima T,Imai T,Motomura M,Saitoh S

    更新日期：2012-10-01 00:00:00

  • Two different pathological conditions of photoparoxysmal responses in hereditary dentatorubral-pallidoluysian atrophy.

    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

    authors： Takahashi Y,Watanabe M,Fujiwara T,Yagi K,Kondo N,Orii T,Seino M

    更新日期：1997-06-01 00:00:00

  • Convulsive syncope following placement of sphenoidal electrodes.

    abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(99)00006-6

    authors： DeToledo JC

    更新日期：1999-04-01 00:00:00

  • Risk factors and outcomes of childhood ischemic stroke in Taiwan.

    abstract：:In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2007.05.002

    authors： Lee YY,Lin KL,Wang HS,Chou ML,Hung PC,Hsieh MY,Lin JJ,Wong AM

    更新日期：2008-01-01 00:00:00

  • Excitability level-setting mechanisms in the pons: their behavioral support in decerebrate, reflex standing and freely moving, intact cats.

    abstract：:In the acute precollicular-postmammillary decerebrate cat, stimulation of the mesencephalic locomotor region (MLR) induces "controlled locomotion" on a moving treadmill. Stimulation of the dorsal area and of the ventral area of the pons at its midline elicited a long-lasting decrease and an increase in the tone of the...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(86)80062-6

    authors： Mori S,Ohta Y,Sakamoto T,Nonaka S

    更新日期：1986-01-01 00:00:00

  • Modification of AMPA receptor properties following environmental enrichment.

    abstract：:Environmental enrichment results in many modifications in the brain such as structural, behavioural, and biochemical changes. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type receptors for excitatory amino acid glutamate are recently found to be involved in neuronal plasticity. In this study, we ex...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2004.07.006

    authors： Naka F,Narita N,Okado N,Narita M

    更新日期：2005-06-01 00:00:00

  • Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder.

    abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2009.06.008

    authors： Sasongko TH,Gunadi,Yusoff S,Atif AB,Fatemeh H,Rani A,Marini M,Ab Aziz CB,Zabidi-Hussin ZA,Nishio H,Zilfalil BA

    更新日期：2010-05-01 00:00:00

  • Dystrophin in control and mdx retina.

    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

    authors： Zhao J,Uchino M,Yoshioka K,Miyatake M,Miike T

    更新日期：1991-01-01 00:00:00

  • Long-term prognosis of patients with West syndrome in Japan: social aspects.

    abstract：:Long-term social prognosis of 120 Japanese patients with West syndrome was surveyed using structured questionnaire at the age of 25.4 years in average. The survey revealed that ADL score remained null in one-fifth of cases; the majority entered in special education course for disabled children; only eleven cases were ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(01)00269-8

    authors： Kumagai T,Ito M,Yamazaki Y,Sekijima K,Sakakibara K,Matsutomo Y,Hijikigawa F,Yamada H

    更新日期：2001-11-01 00:00:00

  • A case of intraneural perineurioma presenting with monomelic atrophy in a child.

    abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2009.11.005

    authors： Miyahara-Katayama A,Ohya Y,Omi T,Komaki H,Nonaka I,Sato N,Sasaki M

    更新日期：2010-04-01 00:00:00

  • Efficacy and tolerability of adjunctive therapy with zonisamide in childhood intractable epilepsy.

    abstract：PURPOSE:This study investigated the efficacy and safety of zonisamide (ZNS) adjunctive therapy in children with intractable epilepsy to existing antiepileptic drugs (AEDs). METHODS:A clinical retrospective study was performed from 2003 to 2005 at two tertiary epilepsy centers. We reviewed the data from 163 children (1...

    journal_title：Brain & development

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1016/j.braindev.2009.02.003

    authors： Lee YJ,Kang HC,Seo JH,Lee JS,Kim HD

    更新日期：2010-03-01 00:00:00

  • Maternal micronutrients (folic acid and vitamin B(12)) and omega 3 fatty acids: implications for neurodevelopmental risk in the rat offspring.

    abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2011.01.002

    authors： Roy S,Kale A,Dangat K,Sable P,Kulkarni A,Joshi S

    更新日期：2012-01-01 00:00:00

  • Brain tumors and anorexia nervosa syndrome.

    abstract：:This review presents 21 cases, found in the literature, of a CNS lesion (a tumor in 19 of them) associated with emaciation, anorexia and several psychic symptoms that had led to the diagnosis of anorexia nervosa (AN). Anorexia and psychic disturbances preceded the neurologic signs and/or the correct diagnosis in all p...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/0387-7604(94)90064-7

    authors： Chipkevitch E

    更新日期：1994-05-01 00:00:00

  • ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

    abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.01.003

    authors： Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

    更新日期：2016-08-01 00:00:00

  • Arteriovenous malformation in hypomelanosis of Ito.

    abstract：:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(95)00101-8

    authors： Urgelles E,Pascual-Castroviejo I,Roche C,Moneo JL,Martinez MA,Vega A

    更新日期：1996-01-01 00:00:00

  • Self-induced seizures presumably by peri-orbital somatosensory self-stimulation: a report of two cases.

    abstract：:Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2011.11.004

    authors： Takayama R,Takahashi Y,Mogami Y,Ikegami M,Mukaida S,Ikeda H,Imai K,Shigematsu H,Suzuki Y,Inoue Y

    更新日期：2012-09-01 00:00:00

  • Effect of topiramate, in combination with lidocaine, and phenobarbital, in acute encephalitis with refractory repetitive partial seizures.

    abstract：OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2008.09.010

    authors： Lin JJ,Lin KL,Wang HS,Hsia SH,Wu CT

    更新日期：2009-09-01 00:00:00

  • Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.

    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

    authors： AlOlaby RR,Sweha SR,Silva M,Durbin-Johnson B,Yrigollen CM,Pretto D,Hagerman RJ,Tassone F

    更新日期：2017-06-01 00:00:00

  • Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome.

    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：

    authors： Hori A,Peiffer J,Pfeiffer RA,Iizuka R

    更新日期：1980-01-01 00:00:00