Abstract:
:Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be related to the familial or sporadic origin of the neurofibromatosis-1 or to the presence or absence of T2-weighted hyperintensities. No strong relationship emerged between the extent of neurofibromatosis-1-associated impairment of cognitive functions and degree of macrocephaly; however, the macrocephalic neurofibromatosis-1 group did have a significant verbal impairment relative to the nonmacrocephalic neurofibromatosis-1 group in vocabulary (P < .009).
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Cutting LE,Koth CW,Burnette CP,Abrams MT,Kaufmann WE,Denckla MBdoi
10.1177/088307380001500303subject
Has Abstractpub_date
2000-03-01 00:00:00pages
157-60issue
3eissn
0883-0738issn
1708-8283journal_volume
15pub_type
杂志文章abstract::There is strong evidence for a loss of habituation during cognitive processing in migraine as measured by P300 and contingent negative variation in adults. Event-related potentials evoked by an oddball paradigm have not yet been studied in children and adolescents suffering from different primary headache types. We re...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300703
更新日期:1998-07-01 00:00:00
abstract::Extremely low birth weight premature infants are at risk for poor neurodevelopmental outcome. Postnatal dexamethasone has often been used in premature infants to prevent or treat bronchopulmonary dysplasia, and this drug is thought by some to affect neurodevelopmental outcome. We retrospectively examined the effect of...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807309232
更新日期:2008-04-01 00:00:00
abstract::The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. Although most cases exhibit severe muscle weakness and hypotonia neonatally with short life spans, some cases exhibit a later onset with a longer life span and show cerebellar atrophy w...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810372991
更新日期:2010-11-01 00:00:00
abstract::The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cog...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811414420
更新日期:2012-02-01 00:00:00
abstract::We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300502
更新日期:1998-05-01 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::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 objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170111101
更新日期:2002-11-01 00:00:00
abstract::Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812453322
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND:We developed and validated a Spanish seizure screen for children based on a previously validated English seizure screen that could be administered by a trained research assistant in a 2-step process, approximating the clinical diagnostic process of a pediatric epilepsy specialist. This questionnaire was desi...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820978001
更新日期:2020-12-18 00:00:00
abstract::Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073809338153
更新日期:2009-08-01 00:00:00
abstract::Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809338519
更新日期:2010-02-01 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::There are scarce reports of childhood stroke from China. Our objective was to describe the clinical spectrum, risk factors, and imaging characteristics of childhood stroke in China. Using a hospital discharge database, children with stroke who were first admitted from 2002 to 2011 were retrospectively enrolled. We ide...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814538667
更新日期:2015-03-01 00:00:00
abstract::A pseudotumoral presentation of acute hemicerebellitis is rare in pediatric age. The authors report a new single case study of a 7-year-old child with pseudotumoral unilateral cerebellitis mimicking an intracranial tumor, which clinically presented itself with signs of intracranial hypertension and mild contralateral ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814545114
更新日期:2015-03-01 00:00:00
abstract::Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808324539
更新日期:2009-04-01 00:00:00
abstract::Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular transmission. Although the typical presentation is fatigable weakness with prominent cranial involvement, neonates can lack these hallmark manifestations, and in those with choline acetyltransferase gene mutations, basal...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812470000
更新日期:2014-03-01 00:00:00
abstract::Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. Duchenne muscular dystrophy is caused by absence of dystrophin in muscle and brain; boys with Duchenne muscular dystrophy have a static cognitive impairment with mean Full Scale IQ approximately 1 standa...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073807307975
更新日期:2008-02-01 00:00:00
abstract::To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807300294
更新日期:2007-02-01 00:00:00
abstract::We report the unique case of late-onset pancraniosynostosis presenting with rapid visual deterioration, without other symptoms of increased intracranial pressure. A 10-year-old girl had episodes of blurry vision for 1 month. Magnetic resonance imaging (MRI) demonstrated a borderline Chiari I malformation. Ophthalmolog...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813495307
更新日期:2014-08-01 00:00:00
abstract::Hypoxic-ischemic encephalopathy is an important cause of neuropsychological deficits. Little is known about brain diffusivity in these infants following cooling and its potential in predicting outcome. Diffusion tensor imaging was applied to 3 groups: (1) three infants with hypoxic-ischemic encephalopathy: cooled; (2)...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811402346
更新日期:2011-10-01 00:00:00
abstract:AIM:To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. METHOD:We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820911737
更新日期:2020-07-01 00:00:00
abstract::Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812457459
更新日期:2013-10-01 00:00:00
abstract::Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001501212
更新日期:2000-12-01 00:00:00
abstract::Diagnostic ultrasound has been extensively used for neurologic evaluation of cranial, vascular and spinal diseases. This study presents the techniques, methodology, and procedures for a new diagnostic application of ultrasound for evaluation of the neuromuscular system. In order to determine the optimum sonographic ch...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300115
更新日期:1988-01-01 00:00:00
abstract::This study was conducted to determine the occurrence, severity, and risk factors of gingival enlargement in children treated with valproate and other nonvalproate antiepileptic drugs. A cross-sectional study was carried out in which data obtained from 68 epileptic children under treatment were compared with those from...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190120901
更新日期:2004-12-01 00:00:00
abstract::We reviewed the data from 215 consecutively imaged children who were referred because of neurologic disease. We specifically looked for evidence of cerebral arterial infarction in the form of focal brain damage in an arterial vascular distribution. Twenty-eight showed an arterial infarction pattern. All the major cere...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200413
更新日期:1987-10-01 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::Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...
journal_title:Journal of child neurology
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更新日期:2015-07-01 00:00:00
abstract::We describe a case of pathologically confirmed Alexander's disease in which serial cranial ultrasound studies demonstrated unique findings of enlarging subependymal cysts with evolving periventricular hyperechogenicity. Computed tomographic scan of the head showed low attenuation of the periventricular white matter an...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:1990-07-01 00:00:00