Recurrent nocturnal tongue biting in a child with hereditary chin trembling.

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：:Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...

journal_title：Journal of child neurology

authors： Raafat N,El Safy U,Khater N,Hassan T,Hassan B,Siam A,Youssef A,El Shabrawy A

更新日期：2015-03-01 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：:Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosi...

journal_title：Journal of child neurology

authors： Ercan TE,Oztunc F,Celkan T,Bor M,Kizilkilic O,Vural M,Perk Y,Islak C,Tuysuz B

更新日期：2013-01-01 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 authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

journal_title：Journal of child neurology

authors： Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

更新日期：2010-05-01 00:00:00

abstract：:Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndro...

journal_title：Journal of child neurology

authors： Grosso S,Pucci L,Farnetani M,Di Bartolo RM,Galimberti D,Mostardini R,Anichini C,Balestri M,Morgese G,Balestri P

更新日期：2004-08-01 00:00:00

abstract：:A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a recep...

journal_title：Journal of child neurology

authors： Winter GN,Ben-Pazi H

更新日期：2015-06-01 00:00:00

abstract：:Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety....

journal_title：Journal of child neurology

authors： Jobe A,Lewis D,Wainwright M,DeLong GR

更新日期：2000-08-01 00:00:00

abstract：:We reviewed the data from 215 consecutively imaged children who were referred because of neurologic disease. We specifically looked for evidence of cerebral arterial infarction in the form of focal brain damage in an arterial vascular distribution. Twenty-eight showed an arterial infarction pattern. All the major cere...

journal_title：Journal of child neurology

authors： Baumann RJ,Carr WA,Shuman RM

更新日期：1987-10-01 00:00:00

abstract：:Freely available software, derived from the past 2 decades of neuroimaging research, is significantly more flexible for research purposes than presently available clinical tools. Here, we describe and demonstrate the utility of rapidly deployable analysis software to facilitate trainee-driven translational neuroimagin...

journal_title：Journal of child neurology

authors： Cohen A,Kenney-Jung D,Botha H,Tillema JM

更新日期：2017-01-01 00:00:00

abstract：:Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...

journal_title：Journal of child neurology

authors： Ostrovskaya MA,Rojas M,Kupferman JC,Lande MB,Paterno K,Brosgol Y,Pavlakis SG

更新日期：2015-04-01 00:00:00

abstract：:Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a ...

journal_title：Journal of child neurology

authors： Falsaperla R,Romeo G,Di Giorgio A,Pavone P,Parano E,Connolly AM

更新日期：2001-12-01 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：: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 investigated familial and environmental risk factors in a cohort of South African children diagnosed with attention-deficit hyperactivity disorder (ADHD). A prospective, hospital-based case control study was conducted comprising 50 children diagnosed with ADHD and 50 matched non-ADHD controls. The adjusted effect o...

journal_title：Journal of child neurology

authors： van Dyk L,Springer P,Kidd M,Steyn N,Solomons R,van Toorn R

更新日期：2015-09-01 00:00:00

abstract：:In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Bauer L,Baxter D

更新日期：1998-09-01 00:00:00

abstract：:A 3-year-old boy who had been a 23-week premature infant had subacute onset of abnormal gait, which progressed to generalized weakness with severe weakness of neck extensors. He had U waves on electrocardiography. His serum potassium was 1.8 mmol/L. The patient had a gastrostomy tube due to chronic feeding issues and ...

journal_title：Journal of child neurology

authors： Brosch JR,Sant RV,Golomb MR

更新日期：2011-03-01 00:00:00

abstract：:High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopm...

journal_title：Journal of child neurology

authors： MacLennan AH,Lewis S,Moreno-De-Luca A,Fahey M,Leventer RJ,McIntyre S,Ben-Pazi H,Corbett M,Wang X,Baynam G,Fehlings D,Kurian MA,Zhu C,Himmelmann K,Smithers-Sheedy H,Wilson Y,Ocaña CS,van Eyk C,Badawi N,Wintle RF,Ja

更新日期：2019-07-01 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：: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

abstract：:To determine the yield of neuroimaging in children presenting to the emergency department with acute ataxia in the post-varicella vaccine era, we conducted a cross-sectional study between 1995 and 2013 at a single pediatric tertiary care center. We included children aged 1-18 years evaluated for acute ataxia of <7 day...

journal_title：Journal of child neurology

authors： Rudloe T,Prabhu SP,Gorman MP,Nigrovic LE,Harper MB,Landschaft A,Kimia AA

更新日期：2015-09-01 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：:Neuron-specific enolase, a marker for neuronal injury, is elevated following seizures in adults, but relatively few data exist on postictal neuron-specific enolase levels in children. This study measured cerebrospinal fluid (CSF) neuron-specific enolase levels after seizures in 49 consecutive pediatric patients and in...

journal_title：Journal of child neurology

authors： Wong M,Ess K,Landt M

更新日期：2002-04-01 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：:We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...

journal_title：Journal of child neurology

authors： Rai B,Sharif F

更新日期：2015-03-01 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：:Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be relat...

journal_title：Journal of child neurology

authors： Cutting LE,Koth CW,Burnette CP,Abrams MT,Kaufmann WE,Denckla MB

更新日期：2000-03-01 00:00:00

abstract：:Ischemic stroke in the young is uncommon, but we currently evaluate at least one young stroke patient at our institutions each week. We undertook this chart review of strokes in patients between the ages of 6 months and 39 years to review all conditions associated with, and thus possibly contributory to, the stroke. W...

journal_title：Journal of child neurology

authors： Kerr LM,Anderson DM,Thompson JA,Lyver SM,Call GK

更新日期：1993-07-01 00:00:00

abstract：:Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic features, and movement di...

journal_title：Journal of child neurology

authors： Bindu PS,Shehanaz KE,Christopher R,Pal PK,Ravishankar S

更新日期：2007-07-01 00:00:00