Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine.

abstract：:The distribution of leukomalacia and glial fibrillary acidic protein (GFAP)-positive glial cells in prenatal- and postnatal-onset leukomalacia were compared and diagnosed histologically in 128 autopsied infants and the different pathogeneses were examined. Prenatal-onset leukomalacia was diagnosed in 12 of 71 still-bi...

journal_title：Pediatric neurology

authors： Iida K,Takashima S,Takeuchi Y,Ohno T,Ueda K

更新日期：1993-01-01 00:00:00

abstract：:We report on the successful use of electroconvulsive therapy in a 13-year-old boy with congenital hydrocephalus, a history of multiple shunt revisions, and a stable prepontine arachnoid cyst, who experienced profound catatonic deterioration. After initial shunt placement at age 20 months, the patient had followed norm...

journal_title：Pediatric neurology

authors： Wachtel LE,Baranano K,Reti IM

更新日期：2010-07-01 00:00:00

abstract：:The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behaviora...

journal_title：Pediatric neurology

authors： Gerber PE,Hamiwka L,Connolly MB,Farrell K

更新日期：2000-03-01 00:00:00

abstract：:Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated encephalomyelitis did not exist until publication of expert-defined consensus definitions by the International Pediatric Multiple Sclerosis Society Group in 2007, with upda...

journal_title：Pediatric neurology

authors： Cole J,Evans E,Mwangi M,Mar S

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...

journal_title：Pediatric neurology

authors： Ozcelik AA,Serdaroglu A,Bideci A,Arhan E,Soysal Ş,Demir E,Gücüyener K

更新日期：2014-08-01 00:00:00

abstract：AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS...

journal_title：Pediatric neurology

authors： Harmon KA,Day AM,Hammill AM,Pinto AL,McCulloch CE,Comi AM,National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group.

更新日期：2019-12-01 00:00:00

abstract：:Traumatic spinal epidural hematoma (TSEH) is rare in children. Only three cases of TSEH were documented in the pediatric literature. This clinical note presents an infant with TSEH but no risk factors. Without magnetic resonance imaging examination, children with TSEH and minor symptoms may be missed and under reporte...

journal_title：Pediatric neurology

authors： Alva NS

更新日期：2000-07-01 00:00:00

abstract：:Encephalopathy has been demonstrated to be associated with respiratory syncytial virus bronchiolitis. In this study, the data on all patients less than 14 years of age hospitalized with respiratory syncytial virus bronchiolitis over the past 4 years was reviewed. Patients who had concomitant diagnoses consistent with ...

journal_title：Pediatric neurology

authors： Sweetman LL,Ng YT,Butler IJ,Bodensteiner JB

更新日期：2005-05-01 00:00:00

abstract：:The aim of this study was to evaluate the added utility of gadolinium administration in the magnetic resonance imaging evaluation of developmental delay in children less than 2 years of age. A computerized retrospective study identified all brain magnetic resonance imaging examinations using gadolinium performed at ou...

journal_title：Pediatric neurology

authors： Foerster BR,Ksar J,Petrou M,Eldevik PO,Maly PV,Carlson MD,Sundgren PC

更新日期：2006-08-01 00:00:00

abstract：BACKGROUND:Cerebrospinal fluid opening pressure is elevated with central nervous system infection and vasculitis, but has not been studied in inflammatory demyelinating disease. This retrospective study sought to determine whether children with demyelinating disease demonstrate elevated cerebrospinal fluid opening pres...

journal_title：Pediatric neurology

authors： Narula S,Liu GT,Avery RA,Banwell B,Waldman AT

更新日期：2015-04-01 00:00:00

abstract：:Resting cerebral glucose metabolism was assessed by 18[F]-fluorodeoxyglucose in 11 Down syndrome patients. Standardized uptake values were determined on a pixel-by-pixel basis from the measured tissue-activity data. The results revealed a mean overall 18[F]-fluorodeoxyglucose uptake in the Down syndrome patients close...

journal_title：Pediatric neurology

authors： Lengyel Z,Balogh E,Emri M,Szikszai E,Kollár J,Sikula J,Esik O,Trón L,Oláh E

更新日期：2006-04-01 00:00:00

abstract：:Hematogenous brain metastases are uncommon in childhood. Three patients and a literature review that includes centers reporting up to 36 years of experience are presented in this study. The total of 2,040 patients includes our three examples of one neuroblastoma, one hepatoblastoma, and one adrenal carcinoma. Cerebral...

journal_title：Pediatric neurology

authors： Curless RG,Toledano SR,Ragheb J,Cleveland WW,Falcone S

更新日期：2002-03-01 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

authors： Wolańczyk T,Bryńska A

更新日期：1998-01-01 00:00:00

abstract：:Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...

journal_title：Pediatric neurology

authors： Ceulemans BP,Claes LR,Lagae LG

更新日期：2004-04-01 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

authors： Nicolaides P,Newton RW,Kelsey A

更新日期：1995-02-01 00:00:00

abstract：:Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this te...

journal_title：Pediatric neurology

authors： Carboni P,Pisani F,Crescenzi A,Villani C

更新日期：2002-05-01 00:00:00

abstract：:Obstetrical brachial plexus palsy, one of the most complex peripheral nerve injuries, presents as an injury during the neonatal period. The majority of the children recover with either no deficit or a minor functional deficit, but it is almost certain that some will not regain adequate limb function. These few cases m...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Psychogiou K

更新日期：2008-04-01 00:00:00

abstract：BACKGROUND:Very-low-birth-weight preterm infants have a higher rate of language impairments compared with children born full term. Early identification of preterm infants at risk for language delay is essential to guide early intervention at the time of optimal neuroplasticity. This study examined near-term structural ...

journal_title：Pediatric neurology

authors： Vassar R,Schadl K,Cahill-Rowley K,Yeom K,Stevenson D,Rose J

更新日期：2020-07-01 00:00:00

abstract：:The temporal latency between an encephalopathic event and the onset of infantile spasms cannot be determined in the majority of symptomatic cases (e.g. genetic conditions, cerebral malformations). However, we can measure this interval when a previously normal infant sustains brain injury followed by infantile spasms. ...

journal_title：Pediatric neurology

authors： Guggenheim MA,Frost JD Jr,Hrachovy RA

更新日期：2008-01-01 00:00:00

abstract：BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...

journal_title：Pediatric neurology

authors： Alroughani R,Das R,Penner N,Pultz J,Taylor C,Eraly S

更新日期：2018-06-01 00:00:00

abstract：:We sought to distinguish patients testing positive for human herpesvirus 6 from those testing negative, based on clinical features and magnetic resonance images. Sixteen immunosuppresed patients were tested by polymerase chain reaction for human herpes virus 6 DNA in cerebrospinal fluid (nine positive results). Medica...

journal_title：Pediatric neurology

authors： Provenzale JM,van Landingham K,White LE

更新日期：2010-01-01 00:00:00

abstract：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...

journal_title：Pediatric neurology

authors： Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

更新日期：1986-11-01 00:00:00

abstract：:The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.002. The duplicate article has therefore been removed. The full Elsevier Policy on Article Removal can be found at http://www.elsevier.com/locate/withdra...

journal_title：Pediatric neurology

authors： Disabella MT

更新日期：2014-08-07 00:00:00

abstract：:We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...

journal_title：Pediatric neurology

authors： Antoniuk SA,Bruck I,Dos Santos LH,Pintarelli VL,Navolar FB,Brackmann PC Jr,de Morais RL

更新日期：2001-10-01 00:00:00

abstract：:Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids c...

journal_title：Pediatric neurology

authors： Valik D,Miner PT,Jones JD

更新日期：1997-04-01 00:00:00

abstract：BACKGROUND:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness fr...

journal_title：Pediatric neurology

authors： Rocha J,Taipa R,Melo Pires M,Oliveira J,Santos R,Santos M

更新日期：2014-08-01 00:00:00

abstract：:The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables wer...

journal_title：Pediatric neurology

authors： Standridge SM,Holland KD,Horn PS

更新日期：2010-03-01 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

authors： Tabarki B,Mahdhaoui A,Selmi H,Yacoub M,Essoussi AS

更新日期：2001-09-01 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

authors： Hamvas A,Perlman JM,Volpe JJ

更新日期：1990-01-01 00:00:00

abstract：BACKGROUND:We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS:Four patients wi...

journal_title：Pediatric neurology

authors： Yano ST,Silver K,Young R,DeBrosse SD,Ebel RS,Swoboda KJ,Acsadi G

更新日期：2017-08-01 00:00:00