Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion.

abstract：:The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cog...

journal_title：Journal of child neurology

authors： Genizi J,Shamay-Tsoory SG,Shahar E,Yaniv S,Aharon-Perez J

更新日期：2012-02-01 00:00:00

abstract：BACKGROUND:We developed and validated a Spanish seizure screen for children based on a previously validated English seizure screen that could be administered by a trained research assistant in a 2-step process, approximating the clinical diagnostic process of a pediatric epilepsy specialist. This questionnaire was desi...

journal_title：Journal of child neurology

authors： Torres AR,Camayd-Muñoz C,Alvarado MC,Perez B,Pou J,Hereen T,Jonas R,Douglass LM

更新日期：2020-12-18 00:00:00

abstract：:The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor...

journal_title：Journal of child neurology

authors： Waugh JL,Miller VS,Chudnow RS,Dowling MM

更新日期：2008-07-01 00:00:00

abstract：:Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dyspl...

journal_title：Journal of child neurology

authors： Picker-Minh S,Hartenstein S,Proquitté H,Fröhler S,Raile V,Kraemer N,Apeshiotis S,Leipoldt M,Kalache KD,Morris-Rosendahl D,Boltshauser E,Chen W,Kaindl AM

更新日期：2017-03-01 00:00:00

abstract：:Ketogenic therapy is now an accepted treatment for pediatric and adult patients with medically refractory epilepsy.1-3 However, young adults treated with a ketogenic diet face unique challenges when transitioning to adult neurology providers.4 The variable acceptance of dietary therapy, paucity of nutritionists and ad...

journal_title：Journal of child neurology

authors： Seaborg K,Wang X,Olson C,Felton EA

更新日期：2020-11-01 00:00:00

abstract：:Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...

journal_title：Journal of child neurology

authors： Blisard KS,Davis LE

更新日期：1991-01-01 00:00:00

abstract：:Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who p...

journal_title：Journal of child neurology

authors： Shinawi M,Shahar E

更新日期：2001-03-01 00:00:00

abstract：:Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both. Recent immunocytochemical s...

journal_title：Journal of child neurology

authors： Johnston MV,Mullaney B,Blue ME

更新日期：2003-10-01 00:00:00

abstract：:The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytosolic carnitine cycle and the mitochondrial beta-oxidation cycle. Carn...

journal_title：Journal of child neurology

authors： Pons R,De Vivo DC

更新日期：1995-11-01 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

authors： Okumura A,Kidokoro H,Kato T,Kubota T,Hayakawa F,Kuno K,Watanabe K

更新日期：2008-02-01 00:00:00

abstract：:The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-rec...

journal_title：Journal of child neurology

authors： Andermann F,Andermann E,Ptito A,Fontaine S,Joubert M

更新日期：1999-09-01 00:00:00

abstract：:Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...

journal_title：Journal of child neurology

authors： Tavasoli A,Armangue T,Ho CY,Whitehead M,Bornhorst M,Rhee J,Hwang EI,Wells EM,Packer R,van der Knaap MS,Bugiani M,Vanderver A

更新日期：2017-02-01 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

authors： Patel P,Steinschneider M,Boneparth A,Lantos G

更新日期：2014-09-01 00:00:00

abstract：BACKGROUND:Metagenomic next-generation sequencing offers an unbiased approach to identifying viral pathogens in cerebrospinal fluid of patients with meningoencephalitis of unknown etiology. METHODS:In an 11-month case series, we investigated the use of cerebrospinal fluid metagenomic next-generation sequencing to diag...

journal_title：Journal of child neurology

authors： Erdem G,Kaptsan I,Sharma H,Kumar A,Aylward SC,Kapoor A,Shimamura M

更新日期：2020-11-18 00:00:00

abstract：:The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also im...

journal_title：Journal of child neurology

authors： Fernandez R,Ashraf A,Dure LS

更新日期：2007-01-01 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

authors： Lorberboym M,Watemberg N,Nissenkorn A,Nir B,Lerman-Sagie T

更新日期：2004-02-01 00:00:00

abstract：:The cerebellum is involved in motor and cognitive functions and behavior. Its role in controlling epileptic seizures has been demonstrated in the literature. Genetic factors can enhance epilepsy susceptibility when the cerebellum is damaged. We examined the occurrence and features of epilepsy, intelligence, and psychi...

journal_title：Journal of child neurology

authors： Parmeggiani A,Posar A,Scaduto MC,Chiodo S,Giovanardi-Rossi P

更新日期：2003-01-01 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

authors： Munce TA,Dorman JC,Odney TO,Thompson PA,Valentine VD,Bergeron MF

更新日期：2014-12-01 00:00:00

abstract：:Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, th...

journal_title：Journal of child neurology

authors： Koul R,Alfutaisi A,Hira M

更新日期：2010-02-01 00:00:00

abstract：:We describe a case of pediatric Sjögren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance i...

journal_title：Journal of child neurology

authors： Gottfried JA,Finkel TH,Hunter JV,Carpentieri DF,Finkel RS

更新日期：2001-09-01 00:00:00

abstract：:Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/...

journal_title：Journal of child neurology

authors： Luat AF,Asano E,Kumar A,Chugani HT,Sood S

更新日期：2017-06-01 00:00:00

abstract：:Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...

journal_title：Journal of child neurology

authors： Manson J,Speed I,Abbott K,Crompton J

更新日期：1988-04-01 00:00:00

abstract：:Seven children with neuromuscular disease were placed on mechanical ventilation before the age of 2 years. The outcome for these patients was variable and did not correlate with primary diagnosis. There appeared to be a high correlation between the incidence of electrocardiogram changes and death. Our experience demon...

journal_title：Journal of child neurology

authors： Iannaccone ST,Guilfoile T

更新日期：1988-01-01 00:00:00

abstract：:Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital g...

journal_title：Journal of child neurology

authors： Inozemtseva O,Matute E,Juárez J

更新日期：2008-08-01 00:00:00

abstract：:Computerized neurocognitive testing has become a growing practice across medical populations, but particularly within sports medicine and the management of sports-related concussion. Although traditional neuropsychological measures are solely administered and interpreted by neuropsychologists, computerized cognitive t...

journal_title：Journal of child neurology

authors： De Marco AP,Broshek DK

更新日期：2016-01-01 00:00:00

abstract：:The past 10 years' experience with bone marrow transplantation from normal, immunologically compatible donors indicates its possible use in various neurometabolic diseases, particularly in a patient who has not suffered irreparable brain damage. This experience may be a prelude to treatment by somatic gene therapy. Th...

journal_title：Journal of child neurology

authors： Ozand PT,Gascon GG

更新日期：1992-04-01 00:00:00

abstract：:Lamotrigine is a new antiepileptic drug that may possess unique cognitive and behavioral characteristics. Although lamotrigine can produce neurobehavioral toxicity, it is generally well tolerated. In one study directly comparing lamotrigine to placebo as add-on therapy in patients with intractable epilepsy, no objecti...

journal_title：Journal of child neurology

authors： Meador KJ,Baker GA

更新日期：1997-11-01 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

authors： Wheless JW

更新日期：2009-08-01 00:00:00

abstract：:High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing ...

journal_title：Journal of child neurology

authors： Wakamoto H,Nakamura Y,Ebihara T,Tokuda K,Ohmori H

更新日期：2009-12-01 00:00:00

abstract：:A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the choline signal intensity, respectively, in the right cerebral hemisphere. This is the s...

journal_title：Journal of child neurology

authors： Sigirci A,Alkan A,Kutlu R,Gülcan H

更新日期：2005-08-01 00:00:00