Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?

abstract：:Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...

journal_title：Journal of child neurology

authors： Yoshikawa H,Watanabe T,Abe T,Oda Y

更新日期：1999-04-01 00:00:00

abstract：:Although long-term follow-up data are available for cases with acute disseminated encephalomyelitis, the findings range widely because of the lack of consistent definitions. Using the International Pediatric Multiple Sclerosis Study Group definitions strictly, we determined the long-term prognosis of children with acu...

journal_title：Journal of child neurology

authors： Mar S,Lenox J,Benzinger T,Brown S,Noetzel M

更新日期：2010-06-01 00:00:00

abstract：:In this study the authors investigated whether dysregulation of the fragile X mental retardation protein and mammalian target of rapamycin signaling cascade can have a role in the pathogenesis of encephalopathy of prematurity following perinatal hypoxia-ischemia. The authors examined the brain tissue of newborns with ...

journal_title：Journal of child neurology

authors： Lechpammer M,Wintermark P,Merry KM,Jackson MC,Jantzie LL,Jensen FE

更新日期：2016-03-01 00:00:00

abstract：:Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis ...

journal_title：Journal of child neurology

authors： Wyciszkiewicz A,Pawlak MA,Krawiec K

更新日期：2017-02-01 00:00:00

abstract：OBJECTIVE:Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS:Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with...

journal_title：Journal of child neurology

authors： Stambolliu E,Ioakeim-Ioannidou M,Kontokostas K,Dakoutrou M,Kousoulis AA

更新日期：2017-09-01 00:00:00

abstract：:Intractable epilepsies pose a therapeutic challenge. Precise localization of the epileptic focus is imperative before planning surgical intervention. Functional imaging is an important component of presurgical work-up. Positron emission tomography is unavailable in developing countries; hence, the need to evaluate the...

journal_title：Journal of child neurology

authors： Kalra V,Gulati S,Rana KS,Bal CS,Bhatia M

更新日期：2001-04-01 00:00:00

abstract：:Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magne...

journal_title：Journal of child neurology

authors： Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac K

更新日期：2003-06-01 00:00:00

abstract：:An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...

journal_title：Journal of child neurology

authors： Dubnov-Raz G,Perry A,Berger I

更新日期：2011-03-01 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：:The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...

journal_title：Journal of child neurology

authors： Paquier PF,De Smet HJ,Mariën P,Poznanski N,Van Bogaert P

更新日期：2006-04-01 00:00:00

abstract：:Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...

journal_title：Journal of child neurology

authors： Weisbrot DM,Ettinger AB,Gadow KD,Belman AL,MacAllister WS,Milazzo M,Reed ML,Serrano D,Krupp LB

更新日期：2010-02-01 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：:A 12-year-old boy with perinatally acquired human immunodeficiency virus infection an d Centers for Disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/mi...

journal_title：Journal of child neurology

authors： Bonkowsky JL,Christenson JC,Nixon GW,Pavia AT

更新日期：2002-06-01 00:00:00

abstract：:Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of ...

journal_title：Journal of child neurology

authors： Goebel HH,Brockmann K,Bönnemann CG,Warlo IA,Hanefeld F,Labeit S,Durling HJ,Laing NG

更新日期：2004-02-01 00:00:00

abstract：:Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...

journal_title：Journal of child neurology

authors： Burusnukul P,de los Reyes EC

更新日期：2009-04-01 00:00:00

abstract：:Neuroblastoma is, at once, the most common and deadly extracranial solid tumor of childhood. Efforts aimed at targeting the neural characteristics of these tumors have taught us much about neural crest cell biology, apoptosis induction in the nervous system, and neurotrophin receptor signaling and intracellular proces...

journal_title：Journal of child neurology

authors： Schor NF

更新日期：2013-06-01 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：:We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...

journal_title：Journal of child neurology

authors： Aysun S,Yetük M

更新日期：1998-05-01 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：:We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG)...

journal_title：Journal of child neurology

authors： Sotero de Menezes MA,Connolly M,Bolanos A,Madsen J,Black PM,Riviello JJ Jr

更新日期：2001-08-01 00:00:00

abstract：:Vigabatrin has been studied in adult drug-resistant epilepsy since 1982 in single-blind and double-blind studies followed by long-term, open evaluations. These studies have provided evidence that vigabatrin is a potent and well-tolerated antiepileptic drug and support its potential value in pediatric epilepsy. The lac...

journal_title：Journal of child neurology

authors： Dam M

更新日期：1991-01-01 00:00:00

abstract：:The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...

journal_title：Journal of child neurology

authors： Armstrong DD,Mizrahi EM

更新日期：1998-08-01 00:00:00

abstract：:Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...

journal_title：Journal of child neurology

authors： Butrum MW,Williams LS,Golomb MR

更新日期：2003-11-01 00:00:00

abstract：:The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...

journal_title：Journal of child neurology

authors： Alvord EC Jr,Jahnke U,Fischer EH,Kies MW,Driscoll BF,Compston DA

更新日期：1987-10-01 00:00:00

abstract：:The aim of this study was to clarify the relationship between neurologic findings and outcome of patients with West syndrome, focusing on the popliteal angle. The complete neurologic examination, including an assessment of the popliteal angle and muscle tone, was performed on 45 patients with West syndrome. A tight po...

journal_title：Journal of child neurology

authors： Okumura A,Kato T,Sei Y,Suzuki T,Morishita Y,Watanabe K

更新日期：2006-10-01 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：:Acute necrotizing encephalopathy is characterized by fever, seizures, acute encephalopathy, and rapid progression to coma. It is usually associated with viral illness and shows characteristic brain magnetic resonance imaging features, including symmetrical involvement of bilateral thalami, brain stem, white matter, an...

journal_title：Journal of child neurology

authors： Lee JH,Lee M,Lee J

更新日期：2012-10-01 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：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 00:00:00

abstract：:The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...

journal_title：Journal of child neurology

authors： Merlin E,Doré E,Chabrier S,Biard M,Marques-Verdier A,Stéphan JL

更新日期：2012-10-01 00:00:00