Abstract:
:A five-year-old white male presented with a history of progressive loss of vision that was subsequently followed by progressive corticospinal dysfunction. Evaluation revealed the presence of leukodystrophy which was confirmed by a deficiency of the enzyme, galactosylceramide beta-galactosidase. We present the clinical, computed tomographic, and magnetic resonance imaging features of this late-onset form of globoid cell leukodystrophy.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Brownsworth RD,Bodensteiner JB,Schaefer GB,Barnes Pdoi
10.1016/s0887-8994(85)80009-6subject
Has Abstractpub_date
1985-07-01 00:00:00pages
242-4issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(85)80009-6journal_volume
1pub_type
杂志文章abstract::Although brainstem immaturity has been postulated as one of the pathogenesis underlying cyanosis during feeding (CDF), there has been no widely accepted physiologic parameter that reflects brainstem function. We recently proposed that the dissociation index (DI), one of the phasic sleep parameters, is a reliable and q...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90085-y
更新日期:1991-05-01 00:00:00
abstract::Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(87)90025-7
更新日期:1987-07-01 00:00:00
abstract::The ability to predict long-term neurologic and neuropsychologic outcomes in 22 children, ages 1 week to 14 years at the time of traumatic brain injury, was investigated using proton magnetic resonance spectroscopy acquired post injury and compared with standardized neurologic, intellectual, and neuropsychologic testi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00491-5
更新日期:2003-02-01 00:00:00
abstract::A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 y...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90030-5
更新日期:1990-09-01 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:BACKGROUND:Cyclic vomiting syndrome is characterized by recurrent vomiting that is associated with increased adrenocorticotropic hormone and antidiuretic hormone levels during cyclic vomiting syndrome attacks. However, both prognosis and treatment remain unclear. We therefore evaluated the clinical features, prognosis,...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.01.001
更新日期:2016-04-01 00:00:00
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
更新日期:1998-03-01 00:00:00
abstract:BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.07.005
更新日期:2014-11-01 00:00:00
abstract::Limited data are available on optic neuritis in Asian children. Clinical profiles tend to vary with different races. We aimed to determine the clinical manifestations, visual outcomes, and etiologies of optic neuritis in Malaysian children, and discuss the literature of optic neuritis in Asian children. A retrospectiv...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.02.020
更新日期:2012-05-01 00:00:00
abstract::Epilepsy is a serious chronic brain disorder of childhood. We performed a cross-sectional prevalence study, determined the prevalence of childhood epilepsy, and identified the significance of certain risk factors for epilepsy among 1625 primary-school students aged 6-14 years, living in the center of Kars province. A ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.04.007
更新日期:2012-07-01 00:00:00
abstract::A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected e...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90075-n
更新日期:1993-07-01 00:00:00
abstract::This report describes the outcomes of 28 children who had severe head injuries between 13-18 years of age. All were unconscious at least 24 hours and have been followed at least 2 years after injury. At present, their ages range from 18 to 27 years. Their educational achievements, social activities, marital status, fu...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(88)90079-3
更新日期:1988-11-01 00:00:00
abstract::Epilepsia partialis continua is defined as a spontaneous regular or irregular clonic muscular twitching affecting a limited part of the body, occurring for a minimum of 1 hour and recurring at intervals of less than 10 seconds. Levamisole is used as an immunomodulating medication in patients with recurrent aphthous ul...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.11.020
更新日期:2011-05-01 00:00:00
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
更新日期:2016-10-01 00:00:00
abstract::We describe the association of brain death in an infant with a large cutaneous hemangioma of the forearm. The irreversible cerebral injury is presumed to be secondary to cerebral hypoperfusion as a result of a combination of systemic hypotension and a systemic vascular "steal" phenomenon caused by the cutaneous hemang...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90083-d
更新日期:1990-01-01 00:00:00
abstract::The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.09.008
更新日期:2007-02-01 00:00:00
abstract:BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory acquired demyelinating syndrome predominantly affecting the white matter of the central nervous system. METHODS:We describe a three-year-old boy whose clinical presentation was suspicious for ADEM but whose initial imaging abnor...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.12.006
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2015.12.016
更新日期:2016-06-01 00:00:00
abstract::Psychogenic seizures or psychogenic nonepileptic seizures occur in various mental disorders. Obsessive-compulsive symptoms can also imitate epileptic partial seizures, but detailed observations of this phenomenon are rare in the literature. A girl of 13 years was referred to the Department of Child Psychiatry because ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00135-5
更新日期:1998-01-01 00:00:00
abstract::We aimed to define the dose of pirfenidone in children and adolescents with neurofibromatosis 1 and plexiform neurofibromas that is pharmacokinetically comparable to the active adult dose. Pirfenidone was administered orally on a continuous dosing schedule. The starting dose level was 250 mg/m2/dose. The second dose l...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.01.009
更新日期:2007-05-01 00:00:00
abstract::Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Ra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.06.016
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:Human cytomegalovirus, a major cause of permanent neurodevelopmental disability in children, frequently produces intracranial abnormalities, including calcifications and polymicrogyria, in infants with congenital cytomegalovirus infections. This report describes the features of cerebral cortical clefting, in...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.11.005
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were in...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.04.006
更新日期:2016-08-01 00:00:00
abstract::Between 1991-2006, nine patients below age 18 years, with a microbiologic documentation of Cryptococcus neoformans infection and no evidence of human immunodeficiency virus infection, were identified and treated at Chang Gung Children's Hospital. All exhibited central nervous system involvement. Seven patients were fe...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.10.015
更新日期:2010-04-01 00:00:00
abstract::Magnetic resonance imaging (MRI) was used in high-risk infants to assess the myelination process and its relationship with neurologic outcome. The time period when delayed myelination is best detected by MRI was also studied. MRI was performed in 39 high-risk infants (i.e., preterm infants, infants with respiratory di...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90083-o
更新日期:1993-05-01 00:00:00
abstract::G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heteroz...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.12.004
更新日期:2008-04-01 00:00:00
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
更新日期:1993-11-01 00:00:00
abstract::A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are simil...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(89)90083-0
更新日期:1989-07-01 00:00:00
abstract::Severe brain disorders can be expressed as markedly abnormal encephalopathic EEG patterns in neonates who are usually neurologically depressed, with abnormal levels of reactivity and tone. This symptomatic group is now a minority of medically ill neonates as a result of more vigorous fetal and neonatal resuscitative e...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(96)00009-4
更新日期:1997-05-01 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