当前位置： SCI文献检索 > BRAIN & DEVELOPMENT期刊下所有文献 > Molybdenum cofactor deficiency associated with Dandy-Walker complex.

Molybdenum cofactor deficiency associated with Dandy-Walker complex.

Abstract：

:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral injury is unknown, but sulphite excess, and sulphate or uric acid deficiencies are possible factors. We present here a new case of Molybdenum cofactor deficiency associated with Dandy-Walker complex with a history of three dead siblings, the latter also having Dandy-Walker malformation. We speculate that severe cerebral volume loss due to the above mentioned mechanisms may lead to an appearance resembling Dandy-Walker malformation.

journal_name

Brain Dev

journal_title

Brain & development

authors

Arslanoglu S,Yalaz M,Gökşen D,Coker M,Tütüncüoglu S,Akisu M,Darcan S,Kultursay N,Ciriş M,Demirtaş E

doi

10.1016/s0387-7604(01)00316-3

keywords:

subject

Has Abstract

pub_date

2001-12-01 00:00:00

pages

815-8

issue

8

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(01)00316-3

journal_volume

23

pub_type

杂志文章

相关文献

BRAIN & DEVELOPMENT文献大全
  • A group of very preterm children characterized by atypical gaze patterns.

    abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.10.001

    authors： Sekigawa-Hosozawa M,Tanaka K,Shimizu T,Nakano T,Kitazawa S

    更新日期：2017-03-01 00:00:00

  • The treatment of acute polyradiculoneuritis with respiratory paralysis.

    abstract：:This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：

    authors： Wu HS,Yei QF,Liu TC,Zhang WC

    更新日期：1988-01-01 00:00:00

  • Two siblings with partial trisomy 1(q42.3-ter).

    abstract：:Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(93)90048-d

    authors： Sunaga Y,Ohtsuka T,Nagashima K,Kuroume T

    更新日期：1993-03-01 00:00:00

  • Effectiveness of lidocaine infusion for status epilepticus in childhood: a retrospective multi-institutional study in Japan.

    abstract：:We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...

    journal_title：Brain & development

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.braindev.2007.12.016

    authors： Hattori H,Yamano T,Hayashi K,Osawa M,Kondo K,Aihara M,Haginoya K,Hamano S,Izumi T,Kaneko K,Kato I,Matsukura M,Minagawa K,Miura T,Ohtsuka Y,Sugai K,Takahashi T,Yamanouchi H,Yamamoto H,Yoshikawa H

    更新日期：2008-09-01 00:00:00

  • Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome.

    abstract：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2004.01.009

    authors： Uemura N,Matsumoto A,Nakamura M,Watanabe K,Negoro T,Kumagai T,Miura K,Ohki T,Mizuno S,Okumura A,Aso K,Hayakawa F,Kondo Y

    更新日期：2005-08-01 00:00:00

  • Enteral formula feeds interfere with phenytoin absorption.

    abstract：:Two children treated for status epilepticus had low plasma phenytoin levels during enteral feeding, despite adequate oral dosage. The target range (10-20 mg/l) was achieved when feeds were stopped, or when intravenous phenytoin was used. Enteral feeding may interfere with the absorption of oral phenytoin thereby compr...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(94)90058-2

    authors： O'Hagan M,Wallace SJ

    更新日期：1994-03-01 00:00:00

  • Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.

    abstract：:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2009.04.013

    authors： Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin U

    更新日期：2010-05-01 00:00:00

  • 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.

    abstract：:3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We repor...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(94)90095-7

    authors： Ozand PT,Rashed M,Gascon GG,al Odaib A,Shums A,Nester M,Brismar J

    更新日期：1994-11-01 00:00:00

  • Electroencephalographic features of epileptic drop attacks and absence seizures: a case study.

    abstract：:A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(93)90070-o

    authors： Oguni H,Imaizumi Y,Uehara T,Oguni M,Fukuyama Y

    更新日期：1993-05-01 00:00:00

  • Cerebellar primary germ-cell tumor in a young boy.

    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

    authors： Nakase H,Ohnishi H,Touho H,Karasawa J,Tsunoda S

    更新日期：1994-09-01 00:00:00

  • Electrophysiological study of face inversion effects in Williams syndrome.

    abstract：OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2012.05.010

    authors： Nakamura M,Watanabe S,Inagaki M,Hirai M,Miki K,Honda Y,Kakigi R

    更新日期：2013-04-01 00:00:00

  • Experimentally induced cranial meningocele and cerebral microgyria.

    abstract：:Teratological study on microgyra is rare, and its morphogenesis is still on dispute. Microgyra associated with cranial meningocele and progressive hydrocephalus were induced in rat siblings by administration of 10 mg/kg.bw of n-methyl n-nitrosourea (MNU) to rat dams on day 9 of gestation. Microgyra were closely simila...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：

    authors： Sato H,Sato N,Tamaki N,Matsumoto S

    更新日期：1982-01-01 00:00:00

  • Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome.

    abstract：PURPOSE:The aim of this study is to elucidate the clinical and neurophysiological characteristics of the myoclonic, myoclonic-astatic, or astatic seizures in patients with myoclonic-astatic epilepsy (MAE) of early childhood, and to discuss on the nosology of this unique epileptic syndrome. SUBJECTS:The subjects includ...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/s0387-7604(01)00281-9

    authors： Oguni H,Fukuyama Y,Tanaka T,Hayashi K,Funatsuka M,Sakauchi M,Shirakawa S,Osawa M

    更新日期：2001-11-01 00:00:00

  • Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.

    abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2017.07.015

    authors： Fukazawa M,Tezuka J,Sasazuki M,Masumoto N,Baba H,Doi T,Tsutsumi Y,Mizuno Y,Mihara F,Nakayama H

    更新日期：2018-02-01 00:00:00

  • Electroclinical phenotype in Rubinstein-Taybi syndrome.

    abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2015.12.003

    authors： Giacobbe A,Ajmone PF,Milani D,Avignone S,Triulzi F,Gervasini C,Menni F,Monti F,Biffi D,Canavesi K,Costantino MA

    更新日期：2016-06-01 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

  • Syndrome of septo-optic-pituitary dysplasia: the clinical spectrum.

    abstract：:Septo-optic-pituitary dysplasia is a syndrome characterized by abnormalities of midline brain structures, optic nerve hypoplasia, and congenital hypothalamic-pituitary insufficiency. Four infants, diagnosed as having clinical variations of this disorder, are described. The first had agenesis of the septum pellucidum a...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(86)80075-4

    authors： Morishima A,Aranoff GS

    更新日期：1986-01-01 00:00:00

  • Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.

    abstract：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.01.002

    authors： Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

    更新日期：2016-08-01 00:00:00

  • Urinary N-acetyl-beta-glucosaminidase and guanidinoacetic acid levels in epileptic patients treated with anti-epileptic drugs.

    abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(94)90003-5

    authors： Otsuka T,Sunaga Y,Hikima A

    更新日期：1994-11-01 00:00:00

  • Disentangling the effects of Tourette syndrome and attention deficit hyperactivity disorder on cognitive and behavioral phenotypes.

    abstract：:Eighty participants (62 males; 18 females; age range: 6-16 years) took part in the study, comprising four groups of 20 subjects each: TS-only, ADHD-only, TS+ADHD, controls. The age distributions, did not differ significantly among the four groups. The severity of symptoms, assessed by the TSGS, did not differ signific...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2006.12.003

    authors： Rizzo R,Curatolo P,Gulisano M,Virzì M,Arpino C,Robertson MM

    更新日期：2007-08-01 00:00:00

  • The lack of antiepileptic drugs and worsening of seizures among physically handicapped patients with epilepsy during the Great East Japan Earthquake.

    abstract：BACKGROUND:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.01.005

    authors： Kobayashi S,Endo W,Inui T,Wakusawa K,Tanaka S,Onuma A,Haginoya K

    更新日期：2016-08-01 00:00:00

  • Febrile seizures - semiology in humans and animal models: evidence of focality and heterogeneity.

    abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/j.braindev.2009.09.013

    authors： Neville BG,Gindner D

    更新日期：2010-01-01 00:00:00

  • Intracranial calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report.

    abstract：:A 15-year-old boy presenting with epilepsy, optic atrophy and intracranial calcifications was diagnosed as having metaphyseal dysplasia by bone X-ray examinations. The patient had no laboratory data suggesting other metabolic or endocrinologic disorders. In addition, CT scans showed unique intracranial calcifications ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(97)00040-5

    authors： Ohtagaki A,Hara T,Maegaki Y,Takeshita K

    更新日期：1997-09-01 00:00:00

  • Risk for developing epilepsy and epileptiform discharges on EEG in patients with febrile seizures.

    abstract：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2012.07.014

    authors： Wo SB,Lee JH,Lee YJ,Sung TJ,Lee KH,Kim SK

    更新日期：2013-04-01 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

  • Hyperkinetic movement disorder in a child treated by globus pallidus stimulation.

    abstract：:We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2008.08.003

    authors： Sato K,Nakagawa E,Saito Y,Komaki H,Sakuma H,Sugai K,Sasaki M,Kaido T,Nakama H,Otsuki T

    更新日期：2009-06-01 00:00:00

  • A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

    abstract：BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epi...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2008.05.010

    authors： Ishii A,Fukuma G,Uehara A,Miyajima T,Makita Y,Hamachi A,Yasukochi M,Inoue T,Yasumoto S,Okada M,Kaneko S,Mitsudome A,Hirose S

    更新日期：2009-01-01 00:00:00

  • Importance of Rett syndrome in child neurology.

    abstract：:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/s0387-7604(01)00335-7

    authors： Dunn HG

    更新日期：2001-12-01 00:00:00

  • Short latency somatosensory evoked potentials and 99mTc-HMPAO SPECT in a case of flunarizine-effective alternating hemiplegia in infancy.

    abstract：:Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/0387-7604(94)90032-9

    authors： Imamura A,Komori Y,Fukutomi O,Shimozawa N,Suzuki Y,Kondo N,Orii T

    更新日期：1994-07-01 00:00:00

  • An investigation into kana reading development in normal and dyslexic Japanese children using length and lexicality effects.

    abstract：:This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2011.09.005

    authors： Sambai A,Uno A,Kurokawa S,Haruhara N,Kaneko M,Awaya N,Kozuka J,Goto T,Tsutamori E,Nakagawa K,Wydell TN

    更新日期：2012-06-01 00:00:00