Paroxysmal tonic upgaze and partial tetrasomy of chromosome 15: a novel genetic association.

abstract：:Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, t...

journal_title：Journal of child neurology

authors： Varlamis S,Vavatsi N,Pavlou E,Kotsis V,Spilioti M,Kavga M,Varlamis G,Sotiriadou F,Agakidou E,Voutoufianakis S,Evangeliou AE

更新日期：2013-11-01 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：:There are conflicting results concerning bone metabolism in children receiving antiepileptic medication, with data concentrating on neurologically impaired patients. We performed a multicenter cross-sectional study in otherwise healthy children who received monotherapy with valproic acid, oxcarbazepine, lamotrigine, s...

journal_title：Journal of child neurology

authors： Borusiak P,Langer T,Heruth M,Karenfort M,Bettendorf U,Jenke AC

更新日期：2013-02-01 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：:Abnormal zinc metabolism in a 6-year-old male patient with Landau-Kleffner syndrome (acquired aphasia and convulsive disorder) is the subject of our report. We describe a significant decrease of erythrocyte and plasma zinc levels in the patient as compared with normal. Red blood cell zinc content is normally 38.5 +/- ...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Statter M,Lerman P

更新日期：1987-01-01 00:00:00

abstract：:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...

journal_title：Journal of child neurology

authors： Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón A

更新日期：2008-09-01 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：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：:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined:...

journal_title：Journal of child neurology

authors： Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

更新日期：2012-07-01 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：:Our current purpose is to evaluate the applicability of dynamic statistical parametric mapping, a novel method for localizing epileptiform activity recorded with magnetoencephalography in patients with epilepsy. We report four pediatric patients with focal epilepsies. Magnetoencephalographic data were collected with a...

journal_title：Journal of child neurology

authors： Shiraishi H,Stufflebeam SM,Knake S,Ahlfors SP,Sudo A,Asahina N,Egawa K,Hatanaka K,Kohsaka S,Saitoh S,Grant PE,Dale AM,Halgren E

更新日期：2005-04-01 00:00:00

abstract：:Electrographic seizures are common in neonates with hypoxic-ischemic encephalopathy, but detailed data are not available regarding seizure incidence during therapeutic hypothermia. The objective of this prospective study was to determine the incidence and timing of electrographic seizures in term neonates undergoing w...

journal_title：Journal of child neurology

authors： Wusthoff CJ,Dlugos DJ,Gutierrez-Colina A,Wang A,Cook N,Donnelly M,Clancy R,Abend NS

更新日期：2011-06-01 00:00:00

abstract：:Maternal intrauterine inflammation has been implicated in the development of periventricular leukomalacia and white matter injury in the neonate. We hypothesized that intrauterine endotoxin administration would lead to microstructural changes in the neonatal rabbit white matter in vivo that could be detected at birth ...

journal_title：Journal of child neurology

authors： Saadani-Makki F,Kannan S,Makki M,Muzik O,Janisse J,Romero R,Chugani D

更新日期：2009-09-01 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 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：:The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...

journal_title：Journal of child neurology

authors： Hatanaka T,Yoshijima S,Hayashi N,Owa K,Suehiro Y,Shinomiya K

更新日期：1993-04-01 00:00:00

abstract：:The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...

journal_title：Journal of child neurology

authors： Ganea R,Jeannet PY,Paraschiv-Ionescu A,Goemans NM,Piot C,Van den Hauwe M,Aminian K

更新日期：2012-01-01 00:00:00

abstract：:Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination revealed mild obesity; the neurological...

journal_title：Journal of child neurology

authors： Fernández-Mayoralas DM,Fernández-Jaén A,Jareño NM,Pérez BC,Fernández PM,Sola AG

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND:Rufinamide, a triazole derivative, is a new-generation antiseizure medication with a novel mechanism of action. We evaluated the efficacy and safety of rufinamide treatment in children with epilepsy younger than 4 years at our center. METHODS:In this retrospective study, we included children younger than 4 ...

journal_title：Journal of child neurology

authors： Tanritanir A,Wang X,Loddenkemper T

更新日期：2021-03-01 00:00:00

abstract：:Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...

journal_title：Journal of child neurology

authors： Dabscheck G,Mackay M,Coleman L,Lo P

更新日期：2007-03-01 00:00:00

abstract：:Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because...

journal_title：Journal of child neurology

authors： Nunes ML,Mugnol F,Bica I,Fiori RM

更新日期：2002-03-01 00:00:00

abstract：:Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seiz...

journal_title：Journal of child neurology

authors： Keith J,Fabian VA,Walsh P,Sinniah R,Robitaille Y

更新日期：2011-04-01 00:00:00

abstract：:Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...

journal_title：Journal of child neurology

authors： Baiardini I,Minetti C,Bonifacino S,Porcu A,Klersy C,Petralia P,Balestracci S,Tarchino F,Parodi S,Canonica GW,Braido F

更新日期：2011-06-01 00:00:00

abstract：:The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 ch...

journal_title：Journal of child neurology

authors： Molinero MR,Varon D,Holden KR,Sladky JT,Molina IB,Cleaves F

更新日期：2003-11-01 00:00:00

abstract：:The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE...

journal_title：Journal of child neurology

authors： Glanzman AM,O'Hagen JM,McDermott MP,Martens WB,Flickinger J,Riley S,Quigley J,Montes J,Dunaway S,Deng L,Chung WK,Tawil R,Darras BT,De Vivo DC,Kaufmann P,Finkel RS,Pediatric Neuromuscular Clinical Research Network for Spin

更新日期：2011-12-01 00:00:00

abstract：:We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

journal_title：Journal of child neurology

authors： Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

更新日期：2006-04-01 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

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：:Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transie...

journal_title：Journal of child neurology

authors： Thapa R,Biswas B,Ghosh A,Mukherjee S

更新日期：2009-05-01 00:00:00

abstract：UNLABELLED:This study evaluates whether the literature-reported potential predictors can predict the outcome of multilevel botulinum toxin A injections in children who walk with flexed knees. The associations between 11 different predictors and 2 different outcome measures (the Gross Motor Function Measure and knee ang...

journal_title：Journal of child neurology

authors： Scholtes VA,Dallmeijer AJ,Becher JG

更新日期：2008-06-01 00:00:00