Abstract:
:The neuronal ceroid-lipofuscinoses (NCL) are a group of inherited progressive encephalopathies. Striking histomorphological feature of the NCL is the accumulation of storage material within the lysosomes in neural and extraneural cells. The basic underlying defect causing the disease is not known. Presupposing a disturbance in lipid peroxidation, some authors recommend antioxidant treatment to slow down the progression of the disease. In this study, the superoxide radical production of polymorphonuclear leukocytes as one potential source of reactive oxygen species was measured in this disorder for the first time. No significant difference in this production between affected individuals and healthy controls could be detected. Our findings cast doubt on the therapeutic benefit of antioxidant treatment.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Kieseier BC,Wisniewski KE,Schuller-Levis G,Park E,Goebel HHdoi
10.1055/s-2007-973788subject
Has Abstractpub_date
1996-08-01 00:00:00pages
202-3issue
4eissn
0174-304Xissn
1439-1899journal_volume
27pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全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
pub_type: 杂志文章
doi:10.1055/s-0038-1677515
更新日期:2019-04-01 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
pub_type: 杂志文章
doi:10.1055/s-0034-1372302
更新日期:2014-08-01 00:00:00
abstract:: ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1675237
更新日期:2019-02-01 00:00:00
abstract::Gene expression in the central nervous system is highly region-specific. We tested the hypothesis that certain developmental biomarkers could be detected in the whole brain or in cortical, subcortical or cerebellar structures. Brain gene expressions of male and female rats at birth, 3 days, and 10 days of age were mea...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0028-1105923
更新日期:2008-08-01 00:00:00
abstract::Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1128152
更新日期:2008-10-01 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
pub_type: 杂志文章
doi:10.1055/s-2004-821301
更新日期:2004-10-01 00:00:00
abstract::We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1237724
更新日期:2009-06-01 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
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1676053
更新日期:2019-02-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-973503
更新日期:1999-10-01 00:00:00
abstract::Mucolipidosis IV, a severe neurologic and ophthalmologic progressive disorder has a clinical range of onset between early childhood and adolescence entailing clinically severe, moderate, and mild forms, all of them majorly affecting Ashkenazi Jewish patients in an autosomal-recessive fashion owing to mutations in the ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-34496
更新日期:2002-08-01 00:00:00
abstract::A longitudinal prospective follow-up study looking at the correlation between haemorrhagic-ischaemic lesions on neonatal cranial ultrasound (US) and the development of cerebral visual impairment (CVI) in infancy resulted in the detection of nine infants with severe visual impairment, which was not due to opthalmologic...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973742
更新日期:1996-02-01 00:00:00
abstract::The content of free amino acids in the cerebrospinal fluid from 52 children in different age groups with febrile seizures were determined and compared to 88 age matched children without seizures. We found that the concentrations of some amino acids in CSF in the control group decreased slowly with age, reaching the co...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071277
更新日期:1989-08-01 00:00:00
abstract::Tuberculous meningitis is uncommon in western countries and its outcome is poor when it is not diagnosed and treated in good time. Here, we present a case of febrile brain stroke revealing a tuberculous arachnoiditis in a 13-month-old infant living in a non-endemic country. Thanks to prompt specific antibiotherapy, th...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1273706
更新日期:2010-12-01 00:00:00
abstract::Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601858
更新日期:2017-12-01 00:00:00
abstract::Clinico-radiologic correlations, using CT, were studied in 29 patients with ataxic cerebral palsy. The scans were normal or only slightly abnormal in 38%, posterior fossa abnormalities occurred in 28%, and 55% had obvious cerebral abnormalities which always involved the parietal lobes. There were only two cases where ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071271
更新日期:1989-05-01 00:00:00
abstract:INTRODUCTION:Cerebrovascular changes are rarely discussed in patients with hemimegalencephaly. These alterations have previously been associated with epileptical activity. CASE:We report the case of a 36-week gestation neonate presenting with total right hemimegalencephaly, as demonstrated by a magnetic resonance imag...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1237721
更新日期:2009-04-01 00:00:00
abstract::Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcep...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071313
更新日期:1992-02-01 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
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601860
更新日期:2017-08-01 00:00:00
abstract::The morphological development of the brainstem was studied by means of MR imaging. The subjects were 74 cases ranging in age from 4 months to 16 years, and 6 adult cases. The brainstem development was rapid until 4-6 years of age and thereafter it slowed down. That is the brainstem showed exponential growth (w', t', v...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071432
更新日期:1991-08-01 00:00:00
abstract::Lacosamide (LCM) due to no known drug interaction and the absence of metabolic enzyme induction is a good candidate for an add-on medication, especially in combination with lamotrigine, levetiracetam (LEV), oxcarbazepine, topiramate, and valproic acid (VPA). Here we report for the first time, to our knowledge, that LC...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1600112
更新日期:2017-06-01 00:00:00
abstract::Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1077085
更新日期:2008-02-01 00:00:00
abstract::Familial spinal neurofibromatosis (FSNF) is a rare localized subtype of NF1 which shows neurological symptomatology during adult life. Only a few families have been reported to date. We describe a family in which three members in two generations, mother, son and daughter, were affected. The patients, aged 48, 22 and 1...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-985136
更新日期:2007-04-01 00:00:00
abstract::Following administration of surfactant a marked depression in aEEG activity occurs for about 10 minutes; the mechanism of this depression is unknown. In view of this, twenty-nine preterm infants were investigated with near infrared spectroscopy (NIRS) to evaluate rapid changes in total cerebral haemoglobin concentrati...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071327
更新日期:1992-06-01 00:00:00
abstract::Data coming from a prospective multidisciplinary study with repeated examinations of children with fetal alcohol syndrome (FAS) are reported. These patients underwent pediatric, neurological and psychiatric assessment, EEG-recordings and psychological testing. After a period of 3-4 years various subgroups of these chi...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052428
更新日期:1987-02-01 00:00:00
abstract::Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1701671
更新日期:2020-08-01 00:00:00
abstract:OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550148
更新日期:2015-06-01 00:00:00
abstract::Sleep polygraphic recording was carried out on 52 normal full-term babies. 16 infants were recorded at 2 - 7 days of age, 14 at 2 to 5 weeks, 13 at 6 to 9 weeks and 9 at 10 - 13 weeks. Central apneas of 2 sec and over were analysed in Active Sleep (AS), Quiet Sleep (QS) and Transitional Sleep (TS). Apnea Index (AI, pe...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059630
更新日期:1982-05-01 00:00:00
abstract::Seven epileptic patients with permanent ataxic dysfunction following DPH treatment are described. The ataxia correlates with cerebellar atrophy, though the extents of clinical and structural lesions are not necessarily proportional. Cerebellar atrophy is demonstrated by CT scans, the vermal region seems to be predomin...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052345
更新日期:1984-05-01 00:00:00
abstract::The clinical and some laboratory details of three children who had severe neurological sequelae after either infection with Bordetella pertussis or immunisation with diphtheria, tetanus and pertussis vaccine and oral polio vaccine are reported. Each of these patients had had a recent or concurrent viral illness. The s...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059668
更新日期:1981-11-01 00:00:00
abstract:BACKGROUND:Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). MATERIALS AND METHODS:Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac mu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0033-1336017
更新日期:2013-10-01 00:00:00