Abstract:
:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevation of cerebrospinal fluid glycine in all. The ratio of cerebrospinal fluid to plasma glycine was elevated in four patients, in two patients reaching the level considered diagnostic for nonketotic hyperglycinemia. The activity of the glycine cleavage system was found to be normal in lymphoblasts in two patients. The elevation of cerebrospinal fluid glycine in the disease of vanishing white matter is either caused by a primary disturbance of glycine metabolism or is secondary to excitotoxic brain damage.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken Jdoi
10.1177/088307389901401108subject
Has Abstractpub_date
1999-11-01 00:00:00pages
728-31issue
11eissn
0883-0738issn
1708-8283journal_volume
14pub_type
杂志文章abstract::Neurocysticercosis is a common parasitic infection of the central nervous system. Intraparenchymal giant cysticercosis has been described in literature, but this is a rare report of a thalamic giant cysticercosis in a young child where the diagnosis could be made on follow-up. A 1½-year-old male child presented with s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813513332
更新日期:2014-11-01 00:00:00
abstract::Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389701200304
更新日期:1997-04-01 00:00:00
abstract::Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073817690867
更新日期:2017-05-01 00:00:00
abstract::This review summarizes what is known about the neurobiology of specific language impairment. Despite its name, specific language impairment is frequently not specific. It is common to find associated impairments in motor skills, cognitive function, attention, and reading in children who meet criteria for specific lang...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738040190070101
更新日期:2004-07-01 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::This article reports the results of a study on the relationship between cord blood levels of erythropoietin and periventricular leukomalacia. Cord blood was obtained from 19 infants with gestational age between 27 and 32 weeks. Cystic periventricular leukomalacia was seen in 4 of them. Erythropoietin levels were not d...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807308697
更新日期:2008-02-01 00:00:00
abstract::Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807301933
更新日期:2007-04-01 00:00:00
abstract::Patients with neurofibromatosis 1 show neurocognitive deficits including abnormal visuospatial performance, but oculomotor behavior has not been studied. We recorded saccades in neurofibromatosis 1 and normal children, ages 6 to 12 years. Patients showed increased latency and diminished amplitude to more eccentric tar...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180050301
更新日期:2003-05-01 00:00:00
abstract::To document the impact of Tourette syndrome on the health care needs of children and access to health care among youth with Tourette syndrome, parent-reported data from the 2007-2008 National Survey of Children's Health were analyzed. Children with Tourette syndrome had more co-occurring mental disorders than children...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812465121
更新日期:2013-12-01 00:00:00
abstract::Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cogniti...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808314959
更新日期:2008-08-01 00:00:00
abstract::Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210021601
更新日期:2006-02-01 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::A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073807309243
更新日期:2008-03-01 00:00:00
abstract::In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/08830738050200101001
更新日期:2005-10-01 00:00:00
abstract::Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipa...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307104
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVE:We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819850650
更新日期:2019-10-01 00:00:00
abstract::A 13-month-old boy presented with repeated episodes of tongue biting during sleep. On evaluation, he was found to have hereditary chin trembling, a rare autosomal dominant condition characterized by continuous or intermittent tremulous activity of the mentalis muscle. This is the first report of this kind from India. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210111101
更新日期:2006-11-01 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::The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 ch...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180110801
更新日期:2003-11-01 00:00:00
abstract::We assessed 10 youth football players (13.4 ± 0.7 y) immediately before and after their season to explore the effects of football participation on selected clinical measures of neurologic function. Postseason postural stability in a closed-eye condition was improved compared to preseason (P = .017). Neurocognitive tes...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813509887
更新日期:2014-12-01 00:00:00
abstract::Tics, patterned movements distinct from stereotypies, myoclonus, and other hyperkinetic movements, are quite common in children, particularly among those with developmental and psychiatric disorders. Thus, tics can indicate the presence of atypical neurodevelopment or broader difficulties with cognition or mood. Tics ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738060210080401
更新日期:2006-08-01 00:00:00
abstract::Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001501005
更新日期:2000-10-01 00:00:00
abstract::The ultimate goal for management of patients with cerebral palsy is to help them grow up to become as independent as possible, learn to make their own choices in life, and pursue their own dreams. Optimal mobility is crucial to achieving independence and is also necessary for better health and quality of life in these...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600103
更新日期:2001-01-01 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 epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389801300801
更新日期:1998-08-01 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::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::Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190020201
更新日期:2004-02-01 00:00:00
abstract::This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. Aft...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811420872
更新日期:2012-05-01 00:00:00
abstract::Weight gain occurs with most neuroleptic drugs used to treat tics. Tetrabenazine, a vesicular monoamine transporter type 2 inhibitor, inhibits dopamine release. It is used to treat a variety of hyperkinetic movement disorders, including tics. Weight gain over time was compared in a group of pediatric tic patients taki...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807307108
更新日期:2008-04-01 00:00:00