Clinical manifestations of neurofibromatosis-1 in Chinese children.

Abstract:

:The complications of 50 Chinese children with neurofibromatosis-1 were found to be different from other ethnic groups. There was a predominance of scoliosis, speech problems, and blood malignancies, but brain tumors were rare. The majority had good prognosis. Clinical manifestations depend on the age of ascertainment and, therefore, the prediction of associated complications should be made accordingly.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Wong VC

doi

10.1016/0887-8994(94)90006-x

subject

Has Abstract

pub_date

1994-11-01 00:00:00

pages

301-7

issue

4

eissn

0887-8994

issn

1873-5150

pii

0887-8994(94)90006-X

journal_volume

11

pub_type

杂志文章
  • Correlates of periodic limb movements of sleep in the pediatric population.

    abstract::Periodic limb movements of sleep are clinically underdiagnosed in children. Polysomnography is the most accurate diagnostic test. There is a paucity of information regarding polysomnography findings in children. We evaluated the prevalence and correlates of pediatric periodic limb movements detected by polysomnography...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2008.03.008

    authors: Bokkala S,Napalinga K,Pinninti N,Carvalho KS,Valencia I,Legido A,Kothare SV

    更新日期:2008-07-01 00:00:00

  • Pediatric Guillain-Barré Syndrome in a 30-Year Nationwide Cohort.

    abstract:BACKGROUND:Guillain-Barré syndrome is the most common cause of acute flaccid paresis in childhood. Few validated large-scale population-based data are available concerning pediatric Guillain-Barré syndrome, including incidence, risk factors, and initial clinical characteristics. METHODS:In the Danish National Patient ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2020.01.017

    authors: Levison LS,Thomsen RW,Markvardsen LK,Christensen DH,Sindrup SH,Andersen H

    更新日期:2020-06-01 00:00:00

  • Pediatric Cerebral Cavernous Malformations.

    abstract::Cerebral cavernous malformations are the second most common vascular malformations in the central nervous system, and over one-third are found in children. Lesions may be solitary or multiple, be discovered incidentally, be sporadic, or be secondary to familial cavernomatosis or radiation therapy. Children may present...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/j.pediatrneurol.2020.11.004

    authors: Paddock M,Lanham S,Gill K,Sinha S,Connolly DJA

    更新日期:2020-11-27 00:00:00

  • Occipital-parietal encephalopathy: a new name for an old syndrome.

    abstract::A boy presented with hypertension, seizures, lethargy, headache, and occipital blindness. He improved with antihypertensive therapy. Other reported children with a similar distinctive clinical condition are compared with adults with a syndrome termed reversible posterior leukoencephalopathy. Because both gray and whit...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/s0887-8994(96)00292-5

    authors: Pavlakis SG,Frank Y,Kalina P,Chandra M,Lu D

    更新日期:1997-02-01 00:00:00

  • Gabapentin treatment in a child with delayed-onset hemichorea/hemiballismus.

    abstract::A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(99)00104-6

    authors: Kothare SV,Pollack P,Kulberg AG,Ravin PD

    更新日期:2000-01-01 00:00:00

  • Hallervorden-Spatz syndrome.

    abstract::The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/s0887-8994(01)00253-3

    authors: Swaiman KF

    更新日期:2001-08-01 00:00:00

  • Age-Dependent Reduction in Severity and Discrete Topographical Patterns in Rasmussen Encephalitis: A Link to Cortical Maturation?

    abstract:BACKGROUND:Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS:In our retrospective study, 38 cases were dichotomized into ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2020.07.016

    authors: Benjamin RN,Thomas M,Muthusamy K,Yoganathan S,Mathew V,Chacko AG,Prabhu K,Chacko G

    更新日期:2020-11-01 00:00:00

  • Acute Central Nervous System Complications in Pediatric Acute Lymphoblastic Leukemia.

    abstract:BACKGROUND:The outcome of childhood acute lymphoblastic leukemia has improved because of intensive chemotherapy and supportive care. The frequency of adverse events has also increased, but the data related to acute central nervous system complications during acute lymphoblastic leukemia treatment are sparse. The purpos...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2015.03.006

    authors: Baytan B,Evim MS,Güler S,Güneş AM,Okan M

    更新日期:2015-10-01 00:00:00

  • A case of alternating hemiplegia of childhood with cerebellar atrophy.

    abstract::A case of alternating hemiplegia of childhood is reported. Tonic fits and generalized tonic-clonic seizures developed during her infancy. Frequent twitching and apneic seizures appeared at 16 years of age. Zonisamide transiently suppressed the tonic, twitching and apneic seizures, as well as the facial and neck dyston...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(98)00016-2

    authors: Saito Y,Sakuragawa N,Sasaki M,Sugai K,Hashimoto T

    更新日期:1998-07-01 00:00:00

  • Posterior reversible encephalopathy syndrome in acute intermittent porphyria.

    abstract:BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2014.05.016

    authors: Zhao B,Wei Q,Wang Y,Chen Y,Shang H

    更新日期:2014-09-01 00:00:00

  • Niemann-Pick type C disease associated with peripheral neuropathy.

    abstract::Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(03)00219-4

    authors: Zafeiriou DI,Triantafyllou P,Gombakis NP,Vargiami E,Tsantali C,Michelakaki E

    更新日期:2003-09-01 00:00:00

  • Elevated cerebrospinal fluid opening pressure in a pediatric demyelinating disease cohort.

    abstract:BACKGROUND:Cerebrospinal fluid opening pressure is elevated with central nervous system infection and vasculitis, but has not been studied in inflammatory demyelinating disease. This retrospective study sought to determine whether children with demyelinating disease demonstrate elevated cerebrospinal fluid opening pres...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2015.01.002

    authors: Narula S,Liu GT,Avery RA,Banwell B,Waldman AT

    更新日期:2015-04-01 00:00:00

  • Association of the nicotinic receptor beta 2 subunit and febrile seizures.

    abstract::The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is t...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2003.08.001

    authors: Peng CT,Chou IC,Li CI,Hsu YA,Tsai CH,Tsai FJ

    更新日期:2004-03-01 00:00:00

  • Hammersmith Infant Neurological Examination Asymmetry Score Distinguishes Hemiplegic Cerebral Palsy From Typical Development.

    abstract:BACKGROUND:The Hammersmith Infant Neurological Examination is one of several useful tools for early identification of cerebral palsy; however, cut-off scores for cerebral palsy do not consistently distinguish infants with hemiplegia from those typically developing. We hypothesized that use of an asymmetry score, in add...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2018.07.002

    authors: Hay K,Nelin M,Carey H,Chorna O,Moore-Clingenpeel Ma Mas M,Maitre N,NCH Early Developmental Group.

    更新日期:2018-10-01 00:00:00

  • Transient focal cortical hypometabolism in idiopathic West syndrome.

    abstract::Positron emission tomography (PET) using 18F-labeled 2-deoxy-D-glucose was performed serially in 5 infants with idiopathic West syndrome. While tonic spasms persisted, 2 infants had hypometabolism in the bilateral temporo-parieto-occipital regions, which disappeared after cessation of spasms. In 2 other infants, PET r...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(93)90021-4

    authors: Maeda N,Watanabe K,Negoro T,Aso K,Haga Y,Kito M,Ohki T,Ito K,Kato T

    更新日期:1993-11-01 00:00:00

  • First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.

    abstract::Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids c...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(97)89979-1

    authors: Valik D,Miner PT,Jones JD

    更新日期:1997-04-01 00:00:00

  • Acute Disseminated Encephalomyelitis in Children: An Updated Review Based on Current Diagnostic Criteria.

    abstract::Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated encephalomyelitis did not exist until publication of expert-defined consensus definitions by the International Pediatric Multiple Sclerosis Society Group in 2007, with upda...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/j.pediatrneurol.2019.06.017

    authors: Cole J,Evans E,Mwangi M,Mar S

    更新日期:2019-11-01 00:00:00

  • Acute, sustained chorea in children after supratherapeutic dosing of amphetamine-derived medications.

    abstract::Amphetamine-derived medications are being prescribed with increasing frequency to younger pediatric patients to treat attention deficit hyperactivity disorder. Although choreiform movements were reported in adults with amphetamine abuse and in those under therapeutic treatment for attention deficit hyperactivity disor...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2012.05.013

    authors: Ford JB,Albertson TE,Owen KP,Sutter ME,McKinney WB

    更新日期:2012-09-01 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

  • Benign paroxysmal torticollis in infancy.

    abstract::Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(93)90031-7

    authors: Cohen HA,Nussinovitch M,Ashkenasi A,Straussberg R,Kauschanksy A,Frydman M

    更新日期:1993-11-01 00:00:00

  • Fellowship Training in the Emerging Fields of Fetal-Neonatal Neurology and Neonatal Neurocritical Care.

    abstract:BACKGROUND:Neonatal neurocritical care is a growing and rapidly evolving medical subspecialty, with increasing numbers of dedicated multidisciplinary clinical, educational, and research programs established at academic institutions. The growth of these programs has provided trainees in neurology, neonatology, and pedia...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/j.pediatrneurol.2016.06.006

    authors: Smyser CD,Tam EWY,Chang T,Soul JS,Miller SP,Glass HC

    更新日期:2016-10-01 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

  • Intracranial and Extracranial Vascular Stenosis as Risk Factors for Stroke in Sickle Cell Disease.

    abstract:BACKGROUND:Prevalence and contribution of intracranial and extracranial arterial stenosis to stroke risk were assessed prospectively in children and young adults with sickle cell disease. METHODS:In this cross-sectional study, children and young adults (mean = 19.4 years) with sickle cell disease underwent neurologica...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2020.10.006

    authors: Schlotman AA,Donahue MJ,Kassim AA,Lee CA,Waddle SL,Pruthi S,Davis LT,Rodeghier M,DeBaun MR,Jordan LC

    更新日期:2021-01-01 00:00:00

  • Childhood status epilepticus and excitotoxic neuronal injury.

    abstract::This report describes the case of an 11-year-old girl with a prior history of epilepsy and multiple episodes of status epilepticus who presented with generalized convulsive status epilepticus and left hemiclonic seizures. Magnetic resonance imaging, including diffusion-weighted sequences and spectroscopy, and neuropat...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/j.pediatrneurol.2006.12.005

    authors: Tsuchida TN,Barkovich AJ,Bollen AW,Hart AP,Ferriero DM

    更新日期:2007-04-01 00:00:00

  • Pseudotumor cerebri as a presenting symptom of acute sinusitis in a child.

    abstract::Pseudotumor cerebri is a clinical syndrome characterized by increased intracranial pressure in the absence of an intracranial tumor. It is most frequently diagnosed in obese young women, but it is also reported in children of all age groups, including infants. A variety of medical conditions have been suggested as pos...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(98)00035-6

    authors: Keren T,Lahat E

    更新日期:1998-08-01 00:00:00

  • Extramedullary spinal teratoma presenting with recurrent aseptic meningitis.

    abstract:INTRODUCTION:Spinal teratomas are extremely rare; they constitute <0.5% of all spinal cord tumors. These rare tumors have nonspecific manifestations but in most cases are accompanied by neurological deficits. Rupture of a mature teratoma can cause chemical meningitis. PATIENT DESCRIPTION:A 7-year-old boy presented wit...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2014.02.005

    authors: Mpayo LL,Liu XH,Xu M,Wang K,Wang J,Yang L

    更新日期:2014-06-01 00:00:00

  • Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.

    abstract::This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(97)00187-2

    authors: Fujii T,Hattori H,Higuchi Y,Tsuji M,Mitsuyoshi I

    更新日期:1998-03-01 00:00:00

  • Isolated sympathetic failure with autoimmune autonomic ganglionopathy.

    abstract::A 16-year-old boy had a gradual onset of post-exercise myalgia with progressive fatigue and dizziness. He had bradycardia (37 beats/minute) with low supine and normal standing norepinephrine levels (56 and 311 pg/mL, respectively). He had absent sympathetically mediated vasoconstrictor responses during Valsalva maneuv...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2010.05.003

    authors: Fischer PR,Sandroni P,Pittock SJ,Porter CB,Lehwald LM,Raj SR

    更新日期:2010-10-01 00:00:00

  • Rachischisis totalis without acrania in a newborn male.

    abstract:BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2014.02.019

    authors: Meadows JT Jr,Hayes D Jr

    更新日期:2014-07-01 00:00:00

  • An MRI and MRS study of Pelizaeus-Merzbacher disease.

    abstract::Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem le...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(97)00212-9

    authors: Nezu A,Kimura S,Takeshita S,Osaka H,Kimura K,Inoue K

    更新日期:1998-04-01 00:00:00