Applying the International Classification of Functioning-Children and Youth Version to Pediatric Neuro-oncology.

abstract：:Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first...

journal_title：Journal of child neurology

authors： Saini AG,Singhi P

更新日期：2013-04-01 00:00:00

abstract：:The goal of this study was to collect prospective longitudinal information on the development of an epidemiologically defined cohort of patients with Tourette syndrome. These data may improve prognostic understanding of the condition. This information will also be important for specification of an adult phenotype for ...

journal_title：Journal of child neurology

authors： Burd L,Kerbeshian PJ,Barth A,Klug MG,Avery PK,Benz B

更新日期：2001-06-01 00:00:00

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 manifestation...

journal_title：Journal of child neurology

authors： Young H,Hyman S,North K

更新日期：2002-08-01 00:00:00

abstract：:More than half of neonatal stroke survivors have long-term sequelae, including seizures and neurological deficits. Although the immature brain has tremendous potential for recovery, mechanisms governing repair are essentially unexplored. We investigated whether magnetic resonance imaging (MRI) early or late after tran...

journal_title：Journal of child neurology

authors： Dzietko M,Wendland M,Derugin N,Ferriero DM,Vexler ZS

更新日期：2011-09-01 00:00:00

abstract：:Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magne...

journal_title：Journal of child neurology

authors： Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac K

更新日期：2003-06-01 00:00:00

abstract：:Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemoth...

journal_title：Journal of child neurology

authors： Ghofrani M,Mahvelati F,Tonekaboni H

更新日期：2007-05-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the rati...

journal_title：Journal of child neurology

authors： Eichler F,Tan WH,Shih VE,Grant PE,Krishnamoorthy K

更新日期：2006-09-01 00:00:00

abstract：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 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

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 00:00:00

abstract：:The purpose of this study was to determine the etiologic factors, clinical characteristics, seasonal distributions, family history, response to corticosteroid therapy, recurrence and residual paralysis rates, and factors affecting these in pediatric facial palsy. Patients aged <18 years diagnosed with acute peripheral...

journal_title：Journal of child neurology

authors： Hanci F,Türay S,Bayraktar Z,Kabakuş N

更新日期：2019-12-01 00:00:00

abstract：:The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in man...

journal_title：Journal of child neurology

authors： Sands MS

更新日期：2013-09-01 00:00:00

abstract：:We report the clinical course of a 4-year-old girl with chronic cerebellitis (onset 2 days after diphtheria-pertussis-tetanus vaccination at 1 year and 7 months old) associated with anti-glutamate receptor delta 2 antibody, who improved dramatically with steroid therapy (methylprednisolone pulse therapy plus oral pred...

journal_title：Journal of child neurology

authors： Kubota M,Takahashi Y

更新日期：2008-02-01 00:00:00

abstract：:The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Ramsby G,Greenstein R,Langshur S,Dunham B

更新日期：1993-01-01 00:00:00

abstract：:The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...

journal_title：Journal of child neurology

authors： Byars AW,Holland SK,Strawsburg RH,Bommer W,Dunn RS,Schmithorst VJ,Plante E

更新日期：2002-12-01 00:00:00

abstract：:Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...

journal_title：Journal of child neurology

authors： Hogan AM,Telfer PT,Kirkham FJ,de Haan M

更新日期：2013-10-01 00:00:00

abstract：:Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...

journal_title：Journal of child neurology

authors： Clementi MA,Chang YH,Gambhir R,Lebel A,Logan DE

更新日期：2020-03-01 00:00:00

abstract：:Despite remarkable growth in the clinical neurology literature, there is little research on peer review and biomedical publication in neurology. Biomedical publication research encompasses every step of the research process, from the methodology to the publication of research findings. Some general medical journals ha...

journal_title：Journal of child neurology

authors： Wong VS

更新日期：2010-10-01 00:00:00

abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...

journal_title：Journal of child neurology

authors： Panayiotopoulos CP

更新日期：1989-01-01 00:00:00

abstract：:This article reports on an 11-year-old boy who was diagnosed with unilateral auditory neuropathy. After failing his annual medical and school hearing screenings, he was referred for audiologic testing, which identified a profound sensorineural hearing loss in his left ear that has remained stable for the past 3 1/2 ye...

journal_title：Journal of child neurology

authors： Podwall A,Podwall D,Gordon TG,Lamendola P,Gold AP

更新日期：2002-04-01 00:00:00

abstract：:Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...

journal_title：Journal of child neurology

authors： Yoshikawa H,Watanabe T,Abe T,Oda Y

更新日期：1999-04-01 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

authors： Artzi M,Sira LB,Bassan H,Gross-Tsur V,Berger I,Marom R,Leitner Y,Bental Y,Shiff Y,Geva R,Weinstein M,Bashat DB

更新日期：2011-10-01 00:00:00

abstract：:Two boys, aged 7 and 12 years, with nondominant (right) hemispheric acquired vascular lesions and left visual-field disturbances had right spatial constructional disabilities, contralateral to that which would be expected. These unusual disturbances may represent the previously unreported phenomena of ipsilateral negl...

journal_title：Journal of child neurology

authors： Lewis DW,Geller T

更新日期：1994-01-01 00:00:00

abstract：OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...

journal_title：Journal of child neurology

authors： Munro K,Keller AE,Lowe H,Ferrara E,Whitney R,Liu CYM,Zak M,Chan V,Kobayashi J,Donner EJ

更新日期：2021-01-04 00:00:00

abstract：:Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Leshinsky-Silver E,Watemberg N,Lev D

更新日期：2004-05-01 00:00:00

abstract：:The attention-deficit disorder, with and without hyperactivity, is associated with defective attention, response inhibition and, in attention-deficit disorder with hyperactivity, with motor restlessness. In adults, inattention, defective response inhibition, and impersistence are more commonly seen in right hemisphere...

journal_title：Journal of child neurology

authors： García-Sánchez C,Estévez-González A,Suárez-Romero E,Junqué C

更新日期：1997-02-01 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

authors： Saxonhouse MA,Bhatti MT,Driebe WT Jr,Freeman BE,Maria BL,Carney PR

更新日期：2002-05-01 00:00:00

abstract：:Minimal evidence exists about the risk of recurrent childhood acute ischemic stroke in patients subjected to a subsequent head or neck injury. Recurrent or multiple dissections have been demonstrated in select cases. Minor head trauma has also been associated with acute ischemic stroke. The objective of this study was...

journal_title：Journal of child neurology

authors： Bernard TJ,deVeber GA,Benke TA

更新日期：2007-08-01 00:00:00

abstract：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

journal_title：Journal of child neurology

authors： Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

更新日期：2008-08-01 00:00:00

abstract：:We report two children with transient myasthenia gravis preceded by viral illnesses. The first is a 5-year-old boy who developed oculobulbar weakness 2 weeks following a varicella-zoster infection. The second is a 4-year-old boy who developed facial diplegia and dysarthria several weeks following a viral pharyngitis. ...

journal_title：Journal of child neurology

authors： Felice KJ,DiMario FJ,Conway SR

更新日期：2005-05-01 00:00:00

abstract：:We performed a retrospective review of 65 children with developmental delay. The male-to-female ratio was 2.25 : 1, and the mean age was 5.8 years; performance IQ was 94.8, verbal IQ was 83, and full-scale IQ was 87.4. Twenty-three (35%) children had normal language development, 13 (20%) had below average language dev...

journal_title：Journal of child neurology

authors： Liao SF,Liu JC,Hsu CL,Chang MY,Chang TM,Cheng H

更新日期：2015-01-01 00:00:00