Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata.

abstract：INTRODUCTION:Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thou...

journal_title：Pediatric neurology

authors： Ohshiro-Sasaki A,Shimbo H,Takano K,Wada T,Osaka H

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS:Four patients wi...

journal_title：Pediatric neurology

authors： Yano ST,Silver K,Young R,DeBrosse SD,Ebel RS,Swoboda KJ,Acsadi G

更新日期：2017-08-01 00:00:00

abstract：:Mild encephalopathy with reversible splenial lesions has mainly been associated with influenza A and B virus infection. Patients present with neurologic symptoms 1 to 3 days after a prodromal illness and recover completely within a few days. Magnetic resonance imaging typically shows reversible lesions with reduced di...

journal_title：Pediatric neurology

authors： Abenhaim Halpern L,Agyeman P,Steinlin M,El-Koussy M,Grunt S

更新日期：2013-03-01 00:00:00

abstract：:Carpal tunnel syndrome, although rare, is known to occur in children mainly because of genetic or metabolic disorders. The clinical findings are variable and include symptoms of burning pain, tingling, numbness, and weakness or atrophy in the hands of the patients. It is usually diagnosed by demonstration of prolonged...

journal_title：Pediatric neurology

authors： Unal O,Ozçakar L,Cetin A,Kaymak B

更新日期：2003-10-01 00:00:00

abstract：:Cloxazolam has been used mainly as an anxiolytic agent. The present study was designed to evaluate the effectiveness of cloxazolam as an add-on antiepileptic drug in patients with intractable epilepsy. A total of 32 patients with intractable epilepsy were treated with cloxazolam: 13 with generalized epilepsy, 15 with ...

journal_title：Pediatric neurology

authors： Kimura N,Fujii T,Miyajima T,Kumada T,Mikuni T,Ito M

更新日期：2010-12-01 00:00:00

abstract：:As part of the implementation of a population-based registry of children with cerebral palsy, caregiver satisfaction with the process by which diagnosis was originally communicated by a professional was assessed. Satisfaction with various aspects of the diagnosis process was assessed using a five-point Likert scale an...

journal_title：Pediatric neurology

authors： Dagenais L,Hall N,Majnemer A,Birnbaum R,Dumas F,Gosselin J,Koclas L,Shevell MI

更新日期：2006-12-01 00:00:00

abstract：:A 7-year-old female suddenly exhibited high fever and convulsions, and entered a semi-coma. She also had thrombocytopenia, elevated aminotransferase, prolonged prothrombin time and activated partial thromboplastin time, and hemophagocytes in the bone marrow. The brain magnetic resonance imaging revealed multiple low-i...

journal_title：Pediatric neurology

authors： Akiyoshi K,Hamada Y,Yamada H,Kojo M,Izumi T

更新日期：2006-04-01 00:00:00

abstract：:Eleven children, 4-48 months old, with congenital cyanotic heart defects developed choreoathetoid movements 2-12 days after cardiac surgery with hypothermia and extracorporeal circulation (ECC). The abnormal movements mainly involved the limbs, facial musculature, and tongue, leading to a severe dysphagia. The symptom...

journal_title：Pediatric neurology

authors： Gherpelli JL,Azeka E,Riso A,Atik E,Ebaid M,Barbero-Marcial M

更新日期：1998-08-01 00:00:00

abstract：:Three children ranging in age from 2 to 5 years with acute disseminated encephalomyelitis (ADEM) were successfully treated with high-dose intravenous immunoglobulin (IVIG). Their symptoms were somnolence, fever, headache, vomiting, and resting tremor. In all of these patients, it was difficult to distinguish the condi...

journal_title：Pediatric neurology

authors： Nishikawa M,Ichiyama T,Hayashi T,Ouchi K,Furukawa S

更新日期：1999-08-01 00:00:00

abstract：:This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic examinations, and brain magn...

journal_title：Pediatric neurology

authors： Cabrera MT,Winn BJ,Porco T,Strominger Z,Barkovich AJ,Hoyt CS,Wakahiro M,Sherr EH

更新日期：2011-09-01 00:00:00

abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...

journal_title：Pediatric neurology

authors： Yilmaz S,Turhan T,Mutluer S,Aydogdu S

更新日期：2013-02-01 00:00:00

abstract：:Nerve growth factor (NGF) in cerebrospinal fluid was measured by ELISA in ten children with postinfectious diseases and in five children with diseases suggested to be of autoimmune etiology. Three groups of patients were studied: (1) those with moderately elevated concentrations (50.67 +/- 17.02 pg/mL, mean and SEM), ...

journal_title：Pediatric neurology

authors： Riikonen RS,Söderström S,Korhonen LT,Lindholm DB

更新日期：1998-03-01 00:00:00

abstract：:The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behaviora...

journal_title：Pediatric neurology

authors： Gerber PE,Hamiwka L,Connolly MB,Farrell K

更新日期：2000-03-01 00:00:00

abstract：BACKGROUND:Brain radiotherapy plays a central role in the treatment of certain types of childhood primary central nervous system tumors. However, damage to surrounding normal brain tissue causes different acute and chronic medical and neurological complications. Despite the expected increase in number of childhood prim...

journal_title：Pediatric neurology

authors： Passos J,Nzwalo H,Marques J,Azevedo A,Netto E,Nunes S,Salgado D

更新日期：2015-09-01 00:00:00

abstract：:Balamuthia amebic encephalitis is rarely reported in infants. To the best of our knowledge, amebic encephalitis complicated by a mycotic aneurysm was only described once. We report on an 8-month-child with laboratory-confirmed Balamuthia mandrillaris meningoencephalitis, complicated by a mycotic aneurysm of the middle...

journal_title：Pediatric neurology

authors： Hill CP,Damodaran O,Walsh P,Jevon GP,Blyth CC

更新日期：2011-07-01 00:00:00

abstract：:A 4-year-old male developed encephalitis 2 weeks after the onset of varicella. During his evaluation neuroradiologic procedures documented cerebellar edema and demyelination. Cerebrospinal fluid titers confirmed varicella encephalitis. To our knowledge, this patient is the first reported with focal cerebellar edema, a...

journal_title：Pediatric neurology

authors： Hurst DL,Mehta S

更新日期：1988-03-01 00:00:00

abstract：:Vertigo, instability, dizziness, or equilibrium disorders are not usually considered as consequences of ophthalmologic problems. We present data indicating that ocular disorders can be responsible for these symptoms in children. In a population of 523 pediatric patients with vertigo or disequilibrium and referred for ...

journal_title：Pediatric neurology

authors： Anoh-Tanon MJ,Bremond-Gignac D,Wiener-Vacher SR

更新日期：2000-07-01 00:00:00

abstract：BACKGROUND:Children with perinatal arterial ischemic stroke (PAIS) are at risk for later neurocognitive and behavioral deficits, yet the clinical predictors of these outcomes are understudied. We examined the influence of clinical and infarct characteristics on attention and executive functioning in children following ...

journal_title：Pediatric neurology

authors： Bosenbark DD,Krivitzky L,Ichord R,Vossough A,Bhatia A,Jastrzab LE,Billinghurst L

更新日期：2017-04-01 00:00:00

abstract：:We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters i...

journal_title：Pediatric neurology

authors： Lücke T,Illsinger S,Aulehla-Scholz C,Sander J,Das AM

更新日期：2003-03-01 00:00:00

abstract：:Fenfluramine therapy has been reported to improve behavior in infantile autism and has been associated with a decrease in abnormally increased blood serotonin content. The primary central effect has not been proved to be serotonergic. Beta-endorphin is involved in the anorexic effect of fenfluramine and may play a rol...

journal_title：Pediatric neurology

authors： Ross DL,Klykylo WM,Hitzemann R

更新日期：1987-03-01 00:00:00

abstract：:A 13-year-old female is described with presumed viral encephalitis, who developed progressive catatonia, agitation, and autonomic dysfunction. The diagnosis of malignant catatonia was made, and the patient improved with electroconvulsive treatment. This article discusses features, causes, differential diagnosis, and t...

journal_title：Pediatric neurology

authors： Slooter AJ,Braun KP,Balk FJ,van Nieuwenhuizen O,van der Hoeven J

更新日期：2005-03-01 00:00:00

abstract：:The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...

journal_title：Pediatric neurology

authors： Ishikawa T,Asano Y,Morishima T,Nagashima M,Sobue G,Watanabe K,Yamaguchi H

更新日期：1996-04-01 00:00:00

abstract：:Cortical development in the first years of age for children with very low birth weight is not well characterized. We obtained high-resolution structural magnetic resonance images from children aged 18-22 months (16 very low birth weight/7 term) and 3-4 years (12 very low birth weight/8 term). Cortical surface area and...

journal_title：Pediatric neurology

authors： Phillips JP,Montague EQ,Aragon M,Lowe JR,Schrader RM,Ohls RK,Caprihan A

更新日期：2011-10-01 00:00:00

abstract：BACKGROUND:Corpus callosum atrophy has been associated with cognitive and motor deficits in elderly people. However, the role of the corpus callosum in infant development is unclear. The aim of this study was to assess the impact of corpus callosum size on motor development in infants. METHODS:We investigated cerebral...

journal_title：Pediatric neurology

authors： Chang CL,Hung KL,Yang YC,Ho CS,Chiu NC

更新日期：2015-02-01 00:00:00

abstract：:Cerebral cavernous malformations are the second most common vascular malformations in the central nervous system, and over one-third are found in children. Lesions may be solitary or multiple, be discovered incidentally, be sporadic, or be secondary to familial cavernomatosis or radiation therapy. Children may present...

journal_title：Pediatric neurology

authors： Paddock M,Lanham S,Gill K,Sinha S,Connolly DJA

更新日期：2020-11-27 00:00:00

abstract：:Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...

journal_title：Pediatric neurology

authors： Lee HF,Tsai CR,Chi CS,Lee HJ,Chen CC

更新日期：2009-02-01 00:00:00

abstract：:This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8...

journal_title：Pediatric neurology

authors： Fujii T,Hattori H,Higuchi Y,Tsuji M,Mitsuyoshi I

更新日期：1998-03-01 00:00:00

abstract：:Acute encephalopathy with biphasic seizures and late reduced diffusion was recently established clinicoradiologically as an encephalopathy syndrome. The outcome of this encephalopathy is characterized by a low mortality rate and high incidence of neurologic sequelae. Although the exact pathogenesis of this encephalopa...

journal_title：Pediatric neurology

authors： Matsuo M,Maeda T,Ono N,Sugihara S,Kobayashi I,Koga D,Hamasaki Y

更新日期：2013-03-01 00:00:00

abstract：:Sturge-Weber syndrome without facial nevus is rare. Twenty-four cases were previously reported. Although hypomelanosis of Ito is a relatively common disorder, there was only one previous case in association with Sturge-Weber syndrome. We describe an 11-year-old boy with Sturge-Weber syndrome without facial nevus, coex...

journal_title：Pediatric neurology

authors： Değerliyurt A,Kantar A,Ceylaner S,Aysun S

更新日期：2009-05-01 00:00:00

abstract：:We studied the sensory evoked potentials in pediatric Wilson disease to verify their subclinical neurologic involvement and to elucidate the role of cirrhosis in abnormal evoked potentials in non-neurologic Wilson disease. Thirty children (17 male, 13 female), diagnosed with Wilson disease before 18 years, were enroll...

journal_title：Pediatric neurology

authors： Hsu YS,Chang YC,Lee WT,Ni YH,Hsu HY,Chang MH

更新日期：2003-07-01 00:00:00