Late effects following central nervous system radiation in a pediatric population.

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

abstract：:Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, sever...

journal_title：Neuropediatrics

authors： Kyllerman M,Blomstrand S,Månsson JE,Conradi NG,Hindmarsh T

更新日期：1990-11-01 00:00:00

abstract：:The present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...

journal_title：Neuropediatrics

authors： van Nieuwenhuizen O,Willemse J

更新日期：1988-02-01 00:00:00

abstract：:Intracerebral hemorrhage (ICH) is the most frequent complication in postnatal development of preterm infants. The purpose of the present work is the statistical evaluation of seven standard paraclinical parameters and their association to the development of ICH. Clinical records of 265 preterm infants with gestational...

journal_title：Neuropediatrics

authors： Lampe R,Turova V,Botkin N,Eckardt L,Felderhoff-Müser U,Rieger-Fackeldey E,Alves-Pinto A,Kovtanyuk A,Sidorenko I

更新日期：2019-04-01 00:00:00

abstract：:We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and ...

journal_title：Neuropediatrics

authors： Fenzi F,Simonati A,Crosato F,Ghersini L,Rizzuto N

更新日期：1993-10-01 00:00:00

abstract：:A 19-month-old boy presented with acute-onset cerebellar ataxia following immunisation. Ataxia was prolonged with a fluctuating course over a period of two years. Opsoclonus was never observed. Extensive diagnostic studies were negative during this time. Finally, a neuroblastoma was discovered. Ataxia disappeared comp...

journal_title：Neuropediatrics

authors： Wolff M,Schöning M,Niemann G,Krägeloh-Mann I

更新日期：2001-04-01 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：:The aim of this study was to clarify the significance of positive rolandic sharp waves (PRS) in preterm infants with periventricular leukomalacia (PVL) and their relation to background electroencephalographic (EEG) abnormalities. We retrospectively evaluated EEG findings of 93 preterm infants; 31 infants in the PVL gr...

journal_title：Neuropediatrics

authors： Okumura A,Hayakawa F,Kato T,Kuno K,Watanabe K

更新日期：1999-12-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS:Nine pat...

journal_title：Neuropediatrics

authors： Mercuri E,Counsell S,Allsop J,Jungbluth H,Kinali M,Bonne G,Schwartz K,Bydder G,Dubowitz V,Muntoni F

更新日期：2002-02-01 00:00:00

abstract：:Mitochondrial dysfunction of the energy generating system was suggested in two infants with progressive infantile poliodystrophy characterised by hypotonia, refractory epilepsy, visual impairment, psychomotor retardation, profound brain atrophy, hepatopathy, and increased levels of lactate in blood and cerebrospinal f...

journal_title：Neuropediatrics

authors： Tesarova M,Mayr JA,Wenchich L,Hansikova H,Elleder M,Blahova K,Sperl W,Zeman J

更新日期：2004-08-01 00:00:00

abstract：:Fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia. We report a Canadian male, with clinical features similar to previously reported fucosidosis patients, however, since age 5 he ...

journal_title：Neuropediatrics

authors： Gordon BA,Gordon KE,Seo HC,Yang M,DiCioccio RA,O'Brien JS

更新日期：1995-12-01 00:00:00

abstract：:Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migr...

journal_title：Neuropediatrics

authors： de Vries B,Haan J,Stam AH,Vanmolkot KR,Stroink H,Laan LA,Gill DS,Pascual J,Frants RR,van den Maagdenberg AM,Ferrari MD

更新日期：2006-10-01 00:00:00

abstract：OBJECTIVE:To investigate the association between blood mercury level and attention-deficit hyperactivity disorder (ADHD) in Chinese children in Hong Kong. METHODS:Fifty-two children with ADHD aged below 18 years diagnosed by DSM IV criteria without perinatal brain insults, mental retardation or neurological deficits w...

journal_title：Neuropediatrics

authors： Cheuk DK,Wong V

更新日期：2006-08-01 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：:Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's ...

journal_title：Neuropediatrics

authors： Domingos J,Sarkozy A,Scoto M,Muntoni F

更新日期：2017-08-01 00:00:00

abstract：:Rett syndrome is a neurological disorder associated with cortical atrophy, stereotyped hand movements, dementia, and extrapyramidal dysfunction. Endogenous levels of dopamine and its metabolites are decreased throughout the neocortex and basal ganglia and the number of dopamine type 2 receptors are decreased in the pu...

journal_title：Neuropediatrics

authors： Wenk GL

更新日期：1995-04-01 00:00:00

abstract：:Two children with acute transverse myelopathy following adenovirus and Borrelia Burgdorferi infections are presented. The diagnosis stems from the clinical presentation, the determination of specific antibodies in serum and the favorable response to penicillin treatment in the case of neuroborreliosis. Both children m...

journal_title：Neuropediatrics

authors： Linssen WH,Gabreëls FJ,Wevers RA

更新日期：1991-05-01 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：:Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course...

journal_title：Neuropediatrics

authors： Bousounis DP,Camfield PR,Wolf B

更新日期：1993-08-01 00:00:00

abstract：:Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric ac...

journal_title：Neuropediatrics

authors： Muntau AC,Röschinger W,Merkenschlager A,van der Knaap MS,Jakobs C,Duran M,Hoffmann GF,Roscher AA

更新日期：2000-06-01 00:00:00

abstract：:We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM type in her muscle biopsy. The clinical features of the presented case, as manifested by the early ...

journal_title：Neuropediatrics

authors： Fidziańska A,Kamińska A,Ryniewicz B

更新日期：2005-02-01 00:00:00

abstract：:Hemimegalencephaly, which previously has been associated with a poor clinical course characterized by intractable seizures and severe encephalopathy, was found without these conditions in two children with neurofibromatosis. These children showed relatively similar and favourable prognostic features: no presence of se...

journal_title：Neuropediatrics

authors： Cusmai R,Curatolo P,Mangano S,Cheminal R,Echenne B

更新日期：1990-11-01 00:00:00

abstract：:Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the fol...

journal_title：Neuropediatrics

authors： Kevelam SH,Steenweg ME,Srivastava S,Helman G,Naidu S,Schiffmann R,Blaser S,Vanderver A,Wolf NI,van der Knaap MS

更新日期：2016-12-01 00:00:00

abstract：:Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous...

journal_title：Neuropediatrics

authors： Riikonen R,Santavuori P

更新日期：1994-10-01 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：:A Japanese girl showed deterioration in development from the age of 13 months. At the age of 16 months, there were mild spastic diplegia, increase in cerebrospinal fluid protein to 61.5 mg/dl and deficient galactosylceramidase I. Magnetic resonance imaging (MRI) demonstrated a high signal intensity with increased T2 i...

journal_title：Neuropediatrics

authors： Kurokawa T,Chen YJ,Nagata M,Hasuo K,Kobayashi T,Kitaguchi T

更新日期：1987-08-01 00:00:00

abstract：:Congenital or acquired disorders of hemostasis can cause thrombotic events in adults as well as in children. Recently, acute neurologic complications such as hemiparesis or transitory ischemic attacks (TIA) have been reported in patients with different disorders of hemostasis. In addition, the interaction between anio...

journal_title：Neuropediatrics

authors： Göbel U

更新日期：1994-02-01 00:00:00

abstract：:A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus ...

journal_title：Neuropediatrics

authors： Pierson TM,Zimmerman RA,Tennekoon GI,Bönnemann CG

更新日期：2008-04-01 00:00:00

abstract：:We report antiphospholipid antibody positivity in three of a consecutive series of 23 children presenting partial epileptic seizures. There was no clinical or serological evidence of systemic lupus erythematosus or other connective-tissue disease. Neither computed tomography nor magnetic resonance imaging revealed isc...

journal_title：Neuropediatrics

authors： Angelini L,Granata T,Zibordi F,Binelli S,Zorzi G,Besana C

更新日期：1998-10-01 00:00:00

abstract：:Functional MRI techniques were used to map the position of visual cortex in an awake and a sedated child with congenital anomalies of the posterior hemispheres. In one subject with cortical heterotopia, an activated cortex was found distinct from the structurally abnormal area detected on conventional MRI. In a sedate...

journal_title：Neuropediatrics

authors： Liu GT,Hunter J,Miki A,Fletcher DW,Brown L,Haselgrove JC

更新日期：2000-02-01 00:00:00