Neonate with spinal hypoplasia on T12 and a localized vertebral malformation on L4.

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 authors provide an update on most issues related to biology, diagnosis, and treatment of children with ependymoma based on a literature review. Ependymoma is the third most common brain tumor in children and overall survival ranges from 24% to 75% at 5 years. The extent of surgical resection remains the principal ...

journal_title：Journal of child neurology

authors： Zacharoulis S,Moreno L

更新日期：2009-11-01 00:00:00

abstract：:Cytomegalovirus lumbosacral polyradiculopathy is a well-documented complication of human immunodeficiency virus in adults who have a CD4 count of less than 40/microL. Patients present with an acute ascending flaccid paralysis of the lower limbs with areflexia, paresthesia, and urinary and bowel symptoms. However, it a...

journal_title：Journal of child neurology

authors： Sohal A,Riordan A,Mallewa M,Solomon T,Kneen R

更新日期：2009-02-01 00:00:00

abstract：:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

journal_title：Journal of child neurology

authors： van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

更新日期：1999-11-01 00:00:00

abstract：:To find out why children born extremely preterm are at heightened risk of executive dysfunctions, the authors assessed 716 children who were 10 years old born extremely preterm whose IQ was ≥ 70. A working memory dysfunction (n = 169), an inhibition dysfunction (n = 360), a switching dysfunction (355), and all 3 (exec...

journal_title：Journal of child neurology

authors： Leviton A,Joseph RM,Allred EN,O'Shea TM,Taylor HG,Kuban KKC

更新日期：2018-03-01 00:00:00

abstract：:Subacute sclerosing panencephalitis (SSPE) typically presents with progressive mental deterioration, behavioral changes, and myoclonic jerks. Atypical presentations are not unknown and may result in diagnostic delays. A 9-year-old girl presented with poor balance and ataxia following an episode of upper respiratory tr...

journal_title：Journal of child neurology

authors： Goraya J,Marks H,Khurana D,Legido A,Melvin J

更新日期：2009-07-01 00:00:00

abstract：:The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...

journal_title：Journal of child neurology

authors： Gray EM,Tomlison KG,Kileny S,Leber SM

更新日期：2019-03-01 00:00:00

abstract：:The purpose of this survey and record review was to characterize emergency department management of unprovoked seizures and status epilepticus in children in Illinois. The survey was sent to 119 participating emergency departments in the Emergency Medical Services for Children program; responses were received from 103...

journal_title：Journal of child neurology

authors： Taylor C,Piantino J,Hageman J,Lyons E,Janies K,Leonard D,Kelley K,Fuchs S

更新日期：2015-10-01 00:00:00

abstract：:Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...

journal_title：Journal of child neurology

authors： Edwards BO Jr,Fischer AQ,Flannery DB

更新日期：1988-10-01 00:00:00

abstract：:A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A

更新日期：2010-11-01 00:00:00

abstract：:A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...

journal_title：Journal of child neurology

authors： Ryan SG

更新日期：1999-03-01 00:00:00

abstract：:Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...

journal_title：Journal of child neurology

authors： Armstrong DD

更新日期：2005-09-01 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：:Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, ...

journal_title：Journal of child neurology

authors： Nelson K,Jackman C,Bell J,Shih CS,Payne K,Dlouhy S,Walsh L

更新日期：2018-12-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 00:00:00

abstract：AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...

journal_title：Journal of child neurology

authors： Staples A,Thompson NR,Moodley M

更新日期：2020-07-01 00:00:00

abstract：:Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. Duchenne muscular dystrophy is caused by absence of dystrophin in muscle and brain; boys with Duchenne muscular dystrophy have a static cognitive impairment with mean Full Scale IQ approximately 1 standa...

journal_title：Journal of child neurology

authors： Young HK,Barton BA,Waisbren S,Portales Dale L,Ryan MM,Webster RI,North KN

更新日期：2008-02-01 00:00:00

abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...

journal_title：Journal of child neurology

authors： Matthews DJ,James KA,Miller LA,Pandya S,Campbell KA,Ciafaloni E,Mathews KD,Miller TM,Cunniff C,Meaney FJ,Druschel CM,Romitti PA,Fox DJ,MD STARnet.

更新日期：2010-11-01 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：:Given the increased survival rates in patients with pediatric central nervous system tumors, late effects such as treatment- and/or illness-related neurologic sequelae as well as neuropsychological deficits and social difficulties have moved into focus in follow-up care. In order to provide personalized treatment reco...

journal_title：Journal of child neurology

authors： Pletschko T,Felnhofer A,Schwarzinger A,Weiler L,Slavc I,Leiss U

更新日期：2017-01-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...

journal_title：Journal of child neurology

authors： Mintz M,Pina-Garza JE,Wolf SM,McGoldrick PE,Józwiak S,Grinnell T,Cantu D,Costa R,Moreira J,Li Y,Blum D

更新日期：2020-03-01 00:00:00

abstract：:Among diverse populations concerning the etiology of attention deficit hyperactivity disorder (ADHD), frontal dysfunction remains strong. The influences of frontal systems on attention, particularly the elements of higher mental control postulated as prefrontal functions, are illustrated through presentation of a numb...

journal_title：Journal of child neurology

authors： Benson DF

更新日期：1991-01-01 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：:The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures...

journal_title：Journal of child neurology

authors： Buoni S,Sorrentino L,Farnetani MA,Pucci L,Fois A

更新日期：2000-06-01 00:00:00

abstract：:This population-based cross-sectional study evaluates the clinical value of electroretinography and visual evoked potentials in childhood brain tumor survivors. A flash electroretinography and a checkerboard reversal pattern visual evoked potential (or alternatively a flash visual evoked potential) were done for 51 su...

journal_title：Journal of child neurology

authors： Pietilä S,Lenko HL,Oja S,Koivisto AM,Pietilä T,Mäkipernaa A

更新日期：2016-07-01 00:00:00

abstract：:Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissence...

journal_title：Journal of child neurology

authors： Pavone L,Gullotta F,Incorpora G,Grasso S,Dobyns WB

更新日期：1990-01-01 00:00:00

abstract：:Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, ...

journal_title：Journal of child neurology

authors： Gingold MK,Bodensteiner JB,Schochet SS,Jaynes M

更新日期：1999-05-01 00:00:00

abstract：:In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...

journal_title：Journal of child neurology

authors： Yoon G,Soman T,Wilson J,George K,Mital S,Dipchand AI,McCabe J,Logan W,Kantor P

更新日期：2012-09-01 00:00:00

abstract：:The voltage-sensitive calcium channel probe 125I-omega-GVIA conotoxin has been shown to be a developmental marker in whole brain preparations of Swiss Webster mice. The present study looks more carefully at regional dissections of the mouse brain (cerebrum, cerebellum, and brain stem) at postnatal day 8 and postnatal ...

journal_title：Journal of child neurology

authors： Litzinger MJ,Mouritsen CL,Grover BB,Esplin MS,Abbott JR

更新日期：1994-01-01 00:00:00

abstract：:Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

journal_title：Journal of child neurology

authors： Tsao CY,Mendell JR

更新日期：2006-02-01 00:00:00