Etiologic factors and long-term prognosis of convulsive disorders in the first year of life.

abstract：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent...

journal_title：Neuropediatrics

authors： Gücüyener K,Ozgül K,Paternotte C,Erdem H,Prud'homme JF,Ozgüç M,Topaloğlu H

更新日期：2001-06-01 00:00:00

abstract：:In two children affected with "Epilepsia Partialis Continua" (EPC) of progressive type, probably secondary to a slow encephalitis, the percentage of T-lymphocytes in CSF was lower than normal (30% compared to 90%). The CSF-T-lymphocytes are characterized by their ability to form E-rosettes. In one patient signs of int...

journal_title：Neuropediatrics

authors： Gaggero R,Ferraris PC,De Negri M

更新日期：1990-08-01 00:00:00

abstract：OBJECTIVE:This study aims to describe complications related to ventricular catheter systems with subcutaneous reservoirs (VCSR) (such as Ommaya reservoirs) in pediatric patients with brain tumors. METHODS:Retrospective analysis of consecutive patients with a total of 31 VCSR treated at the Children's University Hospit...

journal_title：Neuropediatrics

authors： Gerber NU,Müller A,Bellut D,Bozinov O,Berger C,Grotzer MA

更新日期：2015-12-01 00:00:00

abstract：:A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A...

journal_title：Neuropediatrics

authors： Arts WF,Hofstee Y,Drejer GF,Beverstock GC,Oosterwijk JC

更新日期：1995-02-01 00:00:00

abstract：:The aims of this study were to suggest the rate of primary progressive (PP) subtype of pediatric onset multiple sclerosis (MS) in Isfahan, Iran, and describe its clinical and paraclinical features. The data of patients were retrieved from Isfahan MS Society (IMSS) database from April 2003 to August 2011. Among 3,843 M...

journal_title：Neuropediatrics

authors： Etemadifar M,Afzali P,Tabrizi N,Hosseini SA

更新日期：2013-06-01 00:00:00

abstract：:This report describes a patient with Gaucher disease type II who developed severe rhabdomyolysis. We treated him successfully and measured various cytokine and chemokine levels sequentially to elucidate the pathophysiology of rhabdomyolysis. The serum levels of interleukin-6, -8, -10, granulocyte colony-stimulating fa...

journal_title：Neuropediatrics

authors： Wakusawa K,Haginoya K,Ishitobi M,Hino-Fukuyo N,Togashi N,Sato I,Ohura T,Yokoyama H,Kikuchi M,Iinuma K,Tsuchiya S

更新日期：2010-02-01 00:00:00

abstract：:We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accum...

journal_title：Neuropediatrics

authors： Verrips A,van Engelen BG,ter Laak H,Wesseling P,de Jong J,Gabreëls FJ

更新日期：2001-04-01 00:00:00

abstract：PURPOSE:This study was aimed to assess the accurate incidence of renal stones in severely disabled children treated with topiramate (TPM). METHOD:We reviewed the medical records of severely disabled children with epilepsy under 15 years old who underwent radiological examinations to investigate urinary stones. The stu...

journal_title：Neuropediatrics

authors： Ishikawa N,Tani H,Kobayashi Y,Kato A,Kobayashi M

更新日期：2019-06-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which h...

journal_title：Neuropediatrics

authors： Righini A,Ciosci R,Selicorni A,Bianchini E,Parazzini C,Zollino M,Lodi M,Triulzi F

更新日期：2007-02-01 00:00:00

abstract：:Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain ma...

journal_title：Neuropediatrics

authors： Barone R,Nigro F,Triulzi F,Musumeci S,Fiumara A,Pavone L

更新日期：1999-10-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...

journal_title：Neuropediatrics

authors： Park ES,Rha DW,Lee JD,Yoo JK,Chang WH

更新日期：2009-12-01 00:00:00

abstract：:This study aimed to investigate whether antenatal taurine can reduce neuronal apoptosis in fetal rat brains with intrauterine growth restriction (IUGR) and its possible mechanisms. A total of 15 pregnant rats were randomly divided into the following three groups: control, IUGR, and IUGR+ antenatal taurine supplements....

journal_title：Neuropediatrics

authors： Liu J,Liu L,Wang XF,Teng HY,Yang N

更新日期：2012-10-01 00:00:00

abstract：:Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...

journal_title：Neuropediatrics

authors： Philippart M,da Silva E,Chugani HT

更新日期：1997-02-01 00:00:00

abstract：:A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed vari...

journal_title：Neuropediatrics

authors： Shapira YA,Yarom R,Blank A

更新日期：1981-05-01 00:00:00

abstract：:The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL a...

journal_title：Neuropediatrics

authors： Pullarkat RK,Morris GN

更新日期：1997-02-01 00:00:00

abstract：:Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-lik...

journal_title：Neuropediatrics

authors： Alhusani A,Obaid A,Blom HJ,Wedell A,Alfadhel M

更新日期：2019-02-01 00:00:00

abstract：:Bilateral occipital calcifications, occurring in celiac disease, are factors coming under a particular cerebral syndrome, which also includes epilepsy, migraine-like headache, visual troubles and mental deterioration. They seem to arise from hypofolatemia following gluten-induced enteropathy. ...

journal_title：Neuropediatrics

authors： Crosato F,Senter S

更新日期：1992-08-01 00:00:00

abstract：: ...

journal_title：Neuropediatrics

authors： Forsyth R

更新日期：2018-12-01 00:00:00

abstract：:Developmental language disorder (DLD) is diagnosed when there is a failure of normal language development in a child with normal nonverbal intelligence. The discussion about additional or causal deficits is controversial. In this study a computer-based motor performance series with a tapping, aiming and pegboard movem...

journal_title：Neuropediatrics

authors： Preis S,Schittler P,Lenard HG

更新日期：1997-12-01 00:00:00

abstract：:Computed tomography (CT) of the brain has been used to evaluate potential etiologies of hemiplegic cerebral palsy in a population-based group of 28 children born preterm, in whom an obvious postnatal cause of hemiplegia could be excluded. The CT findings were classified according to a system so constructed to reflect ...

journal_title：Neuropediatrics

authors： Wiklund LM,Uvebrant P,Flodmark O

更新日期：1991-02-01 00:00:00

abstract：:24 healthy full-term newborns underwent polygraphic recordings of EEG, EMG, EOG, ECG, abdominal and thoracic respiration during day-time-sleep. Transient EEG patterns (rhythmic alpha and beta activity, spikes/sharp waves and frontal sharp transients) were visually evaluated and quantified. Rhythmic alpha activity is n...

journal_title：Neuropediatrics

authors： Statz A,Dumermuth G,Mieth D,Duc G

更新日期：1982-08-01 00:00:00

abstract：:Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...

journal_title：Neuropediatrics

authors： Bernard V,Stricker S,Kreuz F,Minnerop M,Gillessen-Kaesbach G,Zühlke C

更新日期：2008-12-01 00:00:00

abstract：:There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the ...

journal_title：Neuropediatrics

authors： Rodríguez-Vázquez M,Carrascosa-Romero MC,Pardal-Fernández JM,Iniesta I

更新日期：2007-10-01 00:00:00

abstract：:We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium valproate. Molecular analysis of GLRA1 revealed no mutations. The incid...

journal_title：Neuropediatrics

authors： Macaya A,Brunso L,Fernández-Castillo N,Arranz JA,Ginjaar HB,Cuenca-León E,Corominas R,Roig M,Cormand B

更新日期：2005-12-01 00:00:00

abstract：:Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic en...

journal_title：Neuropediatrics

authors： Hackenberg A,Baumer A,Sticht H,Schmitt B,Kroell-Seger J,Wille D,Joset P,Papuc S,Rauch A,Plecko B

更新日期：2014-08-01 00:00:00

abstract：:The effects of malnutrition on conduction in peripheral and central somatosensory pathways in humans, as measured by short-latency somatosensory evoked potentials (SEPs) have not been previously reported. A group of 28 children with kwashiorkor were compared to a control group of 35 children, aged 6-36 months. The mal...

journal_title：Neuropediatrics

authors： Bartel PR,Conradie JM,Robinson E,Prinsloo JG,Becker P

更新日期：1989-02-01 00:00:00

abstract：:In order to determine the relationship between visual functions and neonatal cerebral ultrasound, neurological examinations and cognitive development, a prospective longitudinal study was conducted in 69 high-risk very-low-birthweight children. Visual development was studied at 1 and 2.6 years of corrected age by asse...

journal_title：Neuropediatrics

authors： Weisglas-Kuperus N,Heersema DJ,Baerts W,Fetter WP,Smrkovsky M,van Hof-van Duin J,Sauer PJ

更新日期：1993-06-01 00:00:00

abstract：:Magnetic resonance (MR) imaging has an important role in the diagnosis of metachromatic leukodystrophy (MLD). We report diffusion-weighted MR imaging (DWI) findings of four cases of juvenile type MLD. DWI showed restricted diffusion lines with greater areas of increased diffusion in three patients and widespread incre...

journal_title：Neuropediatrics

authors： Oguz KK,Anlar B,Senbil N,Cila A

更新日期：2004-10-01 00:00:00

abstract：:A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded and acquired skills minimally. The head circumference centile decreased. Magnetic resonance imaging showed progressive neuronal atrophy and secondary delay in myelination. Dihydropyrimidine...

journal_title：Neuropediatrics

authors： Putman CW,Rotteveel JJ,Wevers RA,van Gennip AH,Bakkeren JA,De Abreu RA

更新日期：1997-04-01 00:00:00

abstract：:The response of kidney and bone to parathyroid extract (PTE) was investigated in 8 epileptic children on long-term treatment with primidone in combination with phenytoin or other anticonvulsant drugs. The results indicate a dissociation between normal and cyclic AMP excretion and disturbed renal handling of phosphate ...

journal_title：Neuropediatrics

authors： Kruse K,Kracht U,Göpfert G

更新日期：1982-02-01 00:00:00