当前位置： SCI文献检索 > PEDIATRIC NEUROLOGY期刊下所有文献 > Moyamoya vascular pattern in Alagille syndrome.

Moyamoya vascular pattern in Alagille syndrome.

Abstract：

:We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A heterozygous duplication of one nucleotide (a c.715dupA mutation) not previously described was identified in exon 5 of the JAG1 gene. We review similar cases in the literature and possible pathophysiologic mechanisms (e.g., the Jagged 1 and Notch signaling pathway) of this association.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Rocha R,Soro I,Leitão A,Silva ML,Leão M

doi

10.1016/j.pediatrneurol.2012.04.014

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

125-8

issue

2

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(12)00174-9

journal_volume

47

pub_type

杂志文章

相关文献

PEDIATRIC NEUROLOGY文献大全
  • Serum, urine, and saliva levels of ghrelin and obestatin pre- and post-treatment in pediatric epilepsy.

    abstract：INTRODUCTION:In this study, we aimed to determine the serum, urine, and saliva levels of acyl ghrelin, des-acyl ghrelin, and obestatin in the newly diagnosed idiopathic generalized pediatric epilepsy patients in the pretreatment period and in the third month of valproic acid. MATERIAL AND METHODS:Thirty pre- and post-...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2014.05.014

    authors： Taskin E,Atli B,Kiliç M,Sari Y,Aydin S

    更新日期：2014-09-01 00:00:00

  • Pediatric Hirayama disease.

    abstract：:We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2010.03.015

    authors： Hosokawa T,Fujieda M,Wakiguchi H,Oosaki Y

    更新日期：2010-08-01 00:00:00

  • Effect of Serotonin 1A Agonists and Selective Serotonin Reuptake Inhibitors on Behavioral and Nighttime Respiratory Symptoms in Rett Syndrome.

    abstract：BACKGROUND:Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system has been postulated to play a role in the pathophysiology of these symptoms. PATIENT DESCRIPTION:We present an 11-year-old girl wi...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2016.03.016

    authors： Ohno K,Saito Y,Ueda R,Togawa M,Ohmae T,Matsuda E,Fujiyama M,Maegaki Y

    更新日期：2016-07-01 00:00:00

  • Anxiety and depressive symptoms in children presenting with a first seizure.

    abstract：:We investigated whether children presenting with a first seizure experienced anxiety and depressive signs. Children (aged 7-17 years) with a first unprovoked afebrile seizure participated. These patients (mean age, 12 +/- 2.7 years S.D.; 14 female/8 male) completed the Revised Child Manifest Anxiety Scale (n = 22) and...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2008.07.005

    authors： Loney JC,Wirrell EC,Sherman EM,Hamiwka LD

    更新日期：2008-10-01 00:00:00

  • MRI assessment of myelination patterns in high-risk infants.

    abstract：:Magnetic resonance imaging (MRI) was used in high-risk infants to assess the myelination process and its relationship with neurologic outcome. The time period when delayed myelination is best detected by MRI was also studied. MRI was performed in 39 high-risk infants (i.e., preterm infants, infants with respiratory di...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/0887-8994(93)90083-o

    authors： Fujii Y,Konishi Y,Kuriyama M,Maeda M,Saito M,Ishii Y,Sudo M

    更新日期：1993-05-01 00:00:00

  • MRI and CT findings in Krabbe disease.

    abstract：:The progression and characteristics of magnetic resonance imaging (MRI) and computed tomographic (CT) findings in 3 patients with infantile Krabbe disease (i.e., globoid cell leukodystrophy or galactocerebroside beta-galactosidase deficiency) are reported. We obtained initial CT and MRI studies when patients demonstra...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/0887-8994(91)90046-n

    authors： Sasaki M,Sakuragawa N,Takashima S,Hanaoka S,Arima M

    更新日期：1991-07-01 00:00:00

  • Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

    abstract：:Mitochondrial encephalopathies may be caused by mutations in the respiratory chain complex I subunit genes. Described here are the cases of two pediatric patients who presented with MELAS-like calcarine lesions in addition to novel, bilateral rolandic lesions and epilepsia partialis continua, secondary to MT-ND3 mutat...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2009.02.010

    authors： Werner KG,Morel CF,Kirton A,Benseler SM,Shoffner JM,Addis JB,Robinson BH,Burrowes DM,Blaser SI,Epstein LG,Feigenbaum AS

    更新日期：2009-07-01 00:00:00

  • Vanishing white matter disease with periodic (paroxysmal) hemiparesis.

    abstract：:Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, a...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2005.12.014

    authors： Ramaswamy V,Chan AK,Kolski HK

    更新日期：2006-07-01 00:00:00

  • Calf muscle volume estimates: implications for botulinum toxin treatment?

    abstract：:An optimal botulinum toxin dose may be related to the volume of the targeted muscle. We investigated the suitability of using ultrasound and anthropometry to estimate gastrocnemius and soleus muscle volume. Gastrocnemius and soleus muscle thickness was measured in 11 cadaveric human legs, using ultrasound. Lower leg l...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2007.05.019

    authors： Bandholm T,Sonne-Holm S,Thomsen C,Bencke J,Pedersen SA,Jensen BR

    更新日期：2007-10-01 00:00:00

  • An unusual manifestation of Wegener's granulomatosis in a 4-year-old girl.

    abstract：:We report a female who was diagnosed with Wegener's granulomatosis at 4 years of age with life-threatening intracranial bleeding. The patient's serum was positive for c-antineutrophilic cytoplasmic antibodies, and histologic analysis of the lung biopsy revealed evidence of granulomatous vasculitis. Initial treatment w...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/s0887-8994(02)00392-2

    authors： Haas JP,Metzler M,Ruder H,Waldherr R,Böswald M,Rupprecht T

    更新日期：2002-07-01 00:00:00

  • Methylphenidate effects on global and complex measures of EEG.

    abstract：:Methylphenidate (MPH) effects on global and complex measures of electroencephalography were examined in boys with attention-deficit-hyperactivity disorder between the ages of 9 and 11 years. Electroencephalogram (EEG) data were collected separately from the administration of a continuous performance task and were eval...

    journal_title：Pediatric neurology

    pub_type： 临床试验,杂志文章

    doi：10.1016/s0887-8994(99)00052-1

    authors： Lubar JF,White JN Jr,Swartwood MO,Swartwood JN

    更新日期：1999-09-01 00:00:00

  • Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.

    abstract：:An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, ...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2009.02.004

    authors： Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NM

    更新日期：2009-07-01 00:00:00

  • Acute cerebellitis following hemolytic streptococcal infection.

    abstract：BACKGROUND:Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. PATIENT:We describe a 7-year-old girl with a presentation of cerebellitis following group A streptococcal infection. RESULTS:Magnetic resonance imaging showed diffuse symmetrical swelling and ed...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2013.06.003

    authors： Uchizono H,Iwasa T,Toyoda H,Takahashi Y,Komada Y

    更新日期：2013-12-01 00:00:00

  • Neurodevelopmental outcome in children with posthemorrhagic hydrocephalus.

    abstract：:To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2005.01.008

    authors： Futagi Y,Suzuki Y,Toribe Y,Nakano H,Morimoto K

    更新日期：2005-07-01 00:00:00

  • Postictal psychosis in a child.

    abstract：:Postictal psychosis is a state of psychosis following repeated or prolonged complex partial seizures with or without secondary generalization and is well described in adult epilepsy literature. It is sparsely reported in the pediatric literature. This report describes a 12-year-old male presenting with status epilepti...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2005.10.002

    authors： Joshi CN,Booth FA,Sigurdson ES,Bolton JM,Shah NS

    更新日期：2006-05-01 00:00:00

  • Pharmacotherapy of spasticity in children with cerebral palsy.

    abstract：:Spasticity is one of the most common symptoms presented by neurologic patients. Apart from surgical management, drug therapy is an important treatment of children suffering from spasticity. In this review, recent advances in the pharmacologic armamentarium are reported in detail. In particular, there are oral medicati...

    journal_title：Pediatric neurology

    pub_type： 杂志文章,评审

    doi：10.1016/j.pediatrneurol.2005.05.001

    authors： Verrotti A,Greco R,Spalice A,Chiarelli F,Iannetti P

    更新日期：2006-01-01 00:00:00

  • Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine.

    abstract：BACKGROUND:Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel-coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2013.06.005

    authors： Walleigh DJ,Legido A,Valencia I

    更新日期：2013-11-01 00:00:00

  • Frontal white matter reductions in healthy males with complex stereotypies.

    abstract：:The pathophysiologic mechanism for stereotypic, bilateral repetitive movements involving the arms and hands (complex motor stereotypies) is unknown. This study used volumetric magnetic resonance imaging to compare cerebral lobes and caudate nucleus in six males with complex stereotypies and average intelligence to age...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2004.09.005

    authors： Kates WR,Lanham DC,Singer HS

    更新日期：2005-02-01 00:00:00

  • The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.

    abstract：BACKGROUND:Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2014.07.006

    authors： Pavlović M,Neubauer D,Al Tawari A,Heberle LC

    更新日期：2014-10-01 00:00:00

  • Cerebral perfusion pressure monitoring in premature newborns.

    abstract：:Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/0887-8994(86)90048-2

    authors： Braun MA,Rosman NP,Gould JB

    更新日期：1986-07-01 00:00:00

  • Measles-vaccinated Israeli boy with subacute sclerosing panencephalitis.

    abstract：:Subacute sclerosing panencephalitis is a rare neurologic disorder of childhood and adolescence. We describe a 16-year-old boy who manifested the disease despite proper vaccinations. He was hospitalized because of bedwetting, involuntary limb movements, abnormal speech, and balance disturbances. Immunoglobulin G antibo...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2011.01.011

    authors： Har-Even R,Aichenbaum S,Rabey JM,Livne A,Bistritzer T

    更新日期：2011-06-01 00:00:00

  • Randomized, Single-Blind, Parallel Clinical Trial on Efficacy of Oral Prednisolone Versus Intramuscular Corticotropin on Immediate and Continued Spasm Control in West Syndrome.

    abstract：OBJECTIVE:A single-center, single-blind, parallel-group, randomized clinical trial was performed to test the null hypothesis that adrenocorticotropic hormone is not superior to high-dose prednisolone for treatment of newly diagnosed West syndrome. METHODS:Newly diagnosed infants with West syndrome were randomized to r...

    journal_title：Pediatric neurology

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.pediatrneurol.2015.05.004

    authors： Wanigasinghe J,Arambepola C,Sri Ranganathan S,Sumanasena S,Attanapola G

    更新日期：2015-09-01 00:00:00

  • Comparison of MRI white matter changes with neuropsychologic impairment in Cockayne syndrome.

    abstract：:The neuropsychologic function and white matter changes observed on magnetic resonance imaging (MRI) in Cockayne syndrome were studied. MRI with T2-weighted sequences revealed periventricular hyperintensity and white matter hyperintensity in all 3 Cockayne syndrome patients examined; in contrast, 8 age-matched controls...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/0887-8994(92)90369-a

    authors： Sugita K,Takanashi J,Ishii M,Niimi H

    更新日期：1992-07-01 00:00:00

  • Diffusion tensor imaging in frontal lobe epilepsy.

    abstract：:We report a 13-year-old female with refractory frontal lobe epilepsy in whom diffusion tensor imaging was useful for exploring subtle cortical malformation. She had frequent simple partial seizures characterized by clonic movement of the right upper extremity. Conventional magnetic resonance imaging was not conclusive...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2004.03.010

    authors： Okumura A,Fukatsu H,Kato K,Ikuta T,Watanabe K

    更新日期：2004-09-01 00:00:00

  • Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes.

    abstract：PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2013.08.008

    authors： Jadav RH,Sinha S,Yasha TC,Aravinda H,Gayathri N,Rao S,Bindu PS,Satishchandra P

    更新日期：2014-01-01 00:00:00

  • Detection of antiphospholipid antibody in children with Henoch-Schönlein purpura and central nervous system involvement.

    abstract：:To explore the mechanisms of central nervous system involvement in children with Henoch-Schönlein purpura, levels of lupus anticoagulant, anticardiolipin antibodies, and anti-β2 glycoprotein I antibodies in serum and cerebrospinal fluid were determined in 46 cases of Henoch-Schönlein purpura with central nervous syste...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2012.05.024

    authors： Liu A,Zhang H

    更新日期：2012-09-01 00:00:00

  • Granulomatous herpes simplex encephalitis in an infant with multicystic encephalopathy: a distinct clinicopathologic entity?

    abstract：BACKGROUND:Herpes simplex virus encephalitis can manifest as a range of clinical presentations including classic adult, neonatal, and biphasic chronic-granulomatous herpes encephalitis. METHOD:We report an infant with granulomatous herpes simplex virus type 2 encephalitis with a subacute course and multicystic encepha...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2013.12.008

    authors： Schutz PW,Fauth CT,Al-Rawahi GN,Pugash D,White VA,Stockler S,Dunham CP

    更新日期：2014-04-01 00:00:00

  • Diffusion-Weighted Imaging Changes in a Child With Posterior Ischemic Optic Neuropathy.

    abstract：BACKGROUND:Posterior ischemic optic neuropathy results from ischemia of the retrobulbar aspect of the optic nerve. It presents as acute loss of vision without optic disc swelling. This is rare in children, with only seven cases reported to date. Neuroimaging is frequently used to aid in the diagnosis of acute visual co...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2018.03.014

    authors： Harrar DB,Solomon J,Shah AS,Vaughn J,Durbin AD,Rivkin MJ

    更新日期：2018-07-01 00:00:00

  • The association of Alagille syndrome and craniosynostosis.

    abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/j.pediatrneurol.2012.10.014

    authors： Yilmaz S,Turhan T,Mutluer S,Aydogdu S

    更新日期：2013-02-01 00:00:00

  • Epidemiology of bacterial meningitis in children: Aichi Prefecture, Japan, 1984-1993.

    abstract：:The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...

    journal_title：Pediatric neurology

    pub_type： 杂志文章

    doi：10.1016/0887-8994(96)00024-0

    authors： Ishikawa T,Asano Y,Morishima T,Nagashima M,Sobue G,Watanabe K,Yamaguchi H

    更新日期：1996-04-01 00:00:00