Abstract:
:A patient with X-linked adrenoleukodystrophy exhibited a phenotype of neurofibromatosis 1. He had large and multiple café-au-lait spots, and had elevated serum levels of very long chain fatty acids. The patient's mother and elder sister also had X-linked adrenoleukodystrophy. This case represents novel manifestations of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Yamada H,Izumi Tdoi
10.1016/j.pediatrneurol.2009.03.015subject
Has Abstractpub_date
2009-09-01 00:00:00pages
211-4issue
3eissn
0887-8994issn
1873-5150pii
S0887-8994(09)00161-1journal_volume
41pub_type
杂志文章abstract::Eleven children, 4-48 months old, with congenital cyanotic heart defects developed choreoathetoid movements 2-12 days after cardiac surgery with hypothermia and extracorporeal circulation (ECC). The abnormal movements mainly involved the limbs, facial musculature, and tongue, leading to a severe dysphagia. The symptom...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00036-8
更新日期:1998-08-01 00:00:00
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
更新日期:2020-11-27 00:00:00
abstract::Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriora...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)00155-u
更新日期:1995-02-01 00:00:00
abstract::"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analy...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.07.003
更新日期:2011-11-01 00:00:00
abstract::An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a si...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.07.019
更新日期:2009-12-01 00:00:00
abstract::Two visually impaired children with occipital infarctions are presented. One patient has profound impairment of his primary visual pathway but has good vision for traveling, while the other child presented with the symptoms in reverse. We believe that these two patients provide further evidence that the primary visual...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90079-2
更新日期:1986-11-01 00:00:00
abstract::Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.10.003
更新日期:2007-02-01 00:00:00
abstract::This study was undertaken to investigate the protective role of lactate on the hypoxic brain in newborn rats. A total of 107 7-day-old Wistar rats were divided into three groups. The lactate accumulation group was given 5% oxygen and 95% nitrogen for 30 minutes. The lactate elimination group was given 5% oxygen, a con...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(99)00039-9
更新日期:1999-08-01 00:00:00
abstract::Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90072-7
更新日期:1992-05-01 00:00:00
abstract::Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0887-8994(85)90006-2
更新日期:1985-01-01 00:00:00
abstract::Zonisamide is an antiepileptic drug developed and first marketed in Japan in 1989. Cases of oligohydrosis, characterized by deficient production and secretion of sweat, were reported in children treated with zonisamide in Japan during development and in the postmarketing period. Zonisamide was approved in the United S...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00511-8
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Electrographic status epilepticus in slow sleep or continuous spike and waves during slow-wave sleep is an epileptic encephalopathy characterized by seizures, neurocognitive regression, and significant activation of epileptiform discharges during nonrapid eye movement sleep. There is no consensus on the diag...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.02.016
更新日期:2016-07-01 00:00:00
abstract::Musicogenic epilepsy is a relatively rare form of epilepsy. In its pure form, it is characterized by epileptic seizures that are provoked exclusively by listening to music. The usual type of seizure is partial complex or generalized tonic-clonic. Precipitating factors are quite specific, such as listening to only one ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00011-0
更新日期:2003-05-01 00:00:00
abstract::Proteolipid protein (PLP) is the major myelin protein of the central nervous system and is widely believed to play an important structural role in maintaining the myelin compaction. We have studied the early developmental changes of PLP with immunohistochemical methods. Our data demonstrate for the first time a compar...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00099-4
更新日期:1997-10-01 00:00:00
abstract::A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patie...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90004-k
更新日期:1990-11-01 00:00:00
abstract:PURPOSE:To provide consensus-based, suggested imaging protocols to facilitate the accurate and timely diagnosis of a neonate with symptoms concerning for stroke. METHODS:The Writing Group, an international collaboration of pediatric neurologists and neuroradiologists with expertise in perinatal and childhood stroke, p...
journal_title:Pediatric neurology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1016/j.pediatrneurol.2016.12.008
更新日期:2017-04-01 00:00:00
abstract::We report a 4-year-old, left-handed male with focal coxsackievirus A3 encephalitis who presented with seizures and acquired aphasia. Electroencephalography exhibited focal spike discharges over the right frontal regions, but cranial magnetic resonance imaging did not reveal any structural abnormalities. However, brain...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00206-x
更新日期:2000-11-01 00:00:00
abstract::The aim of this study was to investigate the effect of family structure and the attitude of mothers on the development of breath-holding spells. The data of the Sociodemographic and Parental Attitude Research Instruments of 30 mothers of children with breath-holding spells and of 30 mothers of healthy children were co...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.12.006
更新日期:2006-07-01 00:00:00
abstract::We report a 13-year-old female who experienced symptoms and signs of Rasmussen encephalitis for the first time at the age of 5 years. Various therapeutic procedures, including conventional and new antiepileptic drugs, steroids, immunoglobulin, plasma exchanges, and partial hemispherectomy, were applied, but their resu...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00216-9
更新日期:2003-08-01 00:00:00
abstract:BACKGROUND:Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can a...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.01.008
更新日期:2013-07-01 00:00:00
abstract::This study assessed potential etiologies of arterial ischemic stroke and hemorrhagic stroke among children of Mainland China. From January 1996-June 2006, 251 patients with consecutive childhood stroke (aged 1 month through 16 years) were admitted to Beijing Children's Hospital. Arterial ischemic stroke accounted for ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.11.002
更新日期:2009-04-01 00:00:00
abstract::Two patients with hemophilia and spinal epidural hematoma, who were treated successfully with serial Factor VIII infusions, are reported. This form of conservative therapy may circumvent the need for decompressive laminectomy and its attendant complications in instances in which the neurologic deficit is mild or stabl...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(88)90006-9
更新日期:1988-05-01 00:00:00
abstract::Records were reviewed of 17 patients, ages 4 months to 18 years, who had been diagnosed as having brain abscesses between 1975-1984. Serial computed tomography was used to guide treatment; consequently, 8 patients were managed medically and 9 received surgical intervention. All medically treated patients were free of ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(87)90080-4
更新日期:1987-05-01 00:00:00
abstract::Stimulant therapy is usually contraindicated in patients with movement disorders such as tics or chorea. A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00056-2
更新日期:1996-05-01 00:00:00
abstract::Histologic changes in brains from mentally retarded patients are often subtle and may be limited to abnormalities in the dendritic and synaptic organization of the cerebral cortex. Special methods may be necessary for their demonstration. This review summarizes data on dendritic and synaptic pathology in human mental ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(91)90001-2
更新日期:1991-03-01 00:00:00
abstract::Normal development of the central nervous system depends on complex, dynamic mechanisms with multiple spatial and temporal components during gestation. Neurodevelopmental disorders may originate during fetal life from genetic as well as intrauterine and extrauterine factors that affect the fetal-maternal environment. ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2007.10.009
更新日期:2008-03-01 00:00:00
abstract::A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00290-9
更新日期:2001-09-01 00:00:00
abstract:BACKGROUND:Outcome in severe acute necrotizing encephalopathy of childhood is poor, with high mortality (30%) and moderate to severe disability in survivors despite the use of intravenous corticosteroids or immunoglobulins. Increased blood interleukin 6 level correlates with poor outcome. METHODS:We report the early u...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.04.009
更新日期:2019-09-01 00:00:00
abstract:INTRODUCTION:The ketogenic diet is a valuable therapy for patients with intractable epilepsy, but it can result in a variety of complications that sometimes limits its usefulness. Hypoproteinemia is one of the common adverse effects of this diet, although the underling mechanism is largely unknown except for the diet's...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2015.01.009
更新日期:2015-05-01 00:00:00
abstract::A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90064-7
更新日期:1994-02-01 00:00:00