Abstract:
:Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestations of neurofibromatosis 1 in these patients and provides guidelines for assessment and management. In addition, we review in detail patients who had unusual presentations and who represent important "exceptions to the rules" of clinical practice.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Young H,Hyman S,North Kdoi
10.1177/088307380201700812subject
Has Abstractpub_date
2002-08-01 00:00:00pages
613-21; discussion 627-9, 646-51issue
8eissn
0883-0738issn
1708-8283journal_volume
17pub_type
杂志文章abstract:AIM:The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions. METHOD:Infants with unilateral cerebral palsy (N = 22) ages 8-15 months (mean = 10.95, standard deviation = 2...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818801632
更新日期:2018-12-01 00:00:00
abstract::The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811416363
更新日期:2012-01-01 00:00:00
abstract::The aim was to explore the relationship of youth age and sex to depressive symptoms and illness attitudes in youth with epilepsy and juvenile rheumatic disease. Youth with epilepsy or juvenile rheumatic disease between the ages of 7 and 19 years completed measures of depressive symptoms and illness attitudes. A signif...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811431109
更新日期:2012-08-01 00:00:00
abstract::The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808314152
更新日期:2008-07-01 00:00:00
abstract::The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809340921
更新日期:2010-05-01 00:00:00
abstract::As a community, physicians with expertise in child development and an appreciation of school-related challenges are uniquely positioned to enhance the well-being of children with specific learning disabilities. Efforts in such areas as differential diagnosis, enhancing communication between home and school and among p...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:
更新日期:2004-10-01 00:00:00
abstract::Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy....
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389601100604
更新日期:1996-11-01 00:00:00
abstract::Behçet disease is a systemic vasculitis of unknown etiology that can affect the neurologic system. Neuro-Behçet disease is not well defined in children and adolescents, and the diagnosis is difficult to make in this population as they often present with insufficient symptoms to meet diagnostic criteria. Psychiatric sy...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813504137
更新日期:2014-09-01 00:00:00
abstract::There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknow...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.2310/7010.2006.00046
更新日期:2006-03-01 00:00:00
abstract::Our current purpose is to evaluate the applicability of dynamic statistical parametric mapping, a novel method for localizing epileptiform activity recorded with magnetoencephalography in patients with epilepsy. We report four pediatric patients with focal epilepsies. Magnetoencephalographic data were collected with a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200041601
更新日期:2005-04-01 00:00:00
abstract::We describe a fatal case of mumps virus-associated acute encephalopathy. In terms of the clinical course and cytokine as well as chemokine profiles, the pathogenesis in our case was different from that of mumps meningoencephalitis but was similar to that of influenza virus-associated acute encephalopathy. ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812441060
更新日期:2013-02-01 00:00:00
abstract::After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsycho...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/088307380001500510
更新日期:2000-05-01 00:00:00
abstract::The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200418
更新日期:1987-10-01 00:00:00
abstract::Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814556887
更新日期:2015-09-01 00:00:00
abstract::An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810380051
更新日期:2011-03-01 00:00:00
abstract::We present the results from the evaluations of three children ages of 2, 7, and 11 years with hemiparesis and multiple white-matter lesions on magnetic resonance images (MRIs). The initial symptoms were mainly acute/subacute hemiparesis in all and headache/vomiting in one of them. Before admission, one of them had a h...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700901
更新日期:2002-09-01 00:00:00
abstract::A pilot case-control study was done to collect data on whether susceptibility to newborn encephalopathy and neonatal seizures is influenced by the degree of maternal-fetal sharing of HLA antigens. Cases included 13 infants with moderate or severe newborn encephalopathy and seven infants with neonatal seizures but no o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900214
更新日期:1994-04-01 00:00:00
abstract::Six cases of childhood multiple sclerosis (MS) are presented. All patients (three boys and three girls) were black and came from the Washington, DC, metropolitan area. Age at onset of the disease ranged from 8 to 17 years. Although motor deficits, optic neuritis, and ataxia were similar to those previously reported in...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600112
更新日期:1991-01-01 00:00:00
abstract::In industrialized nations with widespread immunization programs, Guillain-Barré syndrome is the most common cause of acute paralytic illness in children and adults. The incidence of the disease has been estimated to range from 0.5 to 1.5 in 100,000 in individuals less than 18 years of age. Approximately 15% of childre...
journal_title:Journal of child neurology
pub_type:
doi:
更新日期:2004-03-01 00:00:00
abstract::The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811435238
更新日期:2012-10-01 00:00:00
abstract::Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article re...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810378535
更新日期:2011-02-01 00:00:00
abstract::Acute vascular events are rare in the pediatric population, but there is an association with the presence of antiphospholipid antibodies. When there is no other underlying medical disorder, this is referred to as primary antiphospholipid syndrome. We present a case of a 15-year-old boy who developed an acute superior ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700517
更新日期:2002-05-01 00:00:00
abstract::To study the cognitive profile and scholastic performance of children with parenchymal neurocysticercosis. A total of 500 children with a diagnosis of neurocysticercosis and epilepsy registered in our pediatric neurocysticercosis clinic between January 1996 and December 2002 were enrolled. Patients were evaluated for ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818766985
更新日期:2018-06-01 00:00:00
abstract::Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180061001
更新日期:2003-06-01 00:00:00
abstract::The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812464272
更新日期:2013-11-01 00:00:00
abstract::The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400711
更新日期:1999-07-01 00:00:00
abstract::Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807300532
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819890997
更新日期:2020-03-01 00:00:00
abstract::Ethical problems related to intensive care of extremely preterm newborns of < or = 25 weeks' gestational age and at risk of disability have been extensively debated. The Bioethical Committee of the Department of Paediatrics of the University Hospital of Padua organized and started a multidisciplinary group to release ...
journal_title:Journal of child neurology
pub_type: 指南,杂志文章,实务指引
doi:10.1177/088307380401900106011
更新日期:2004-01-01 00:00:00
abstract::In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812448229
更新日期:2012-09-01 00:00:00