解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
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
pub_type: 杂志文章
doi:10.1055/s-2000-7497
更新日期:2000-06-01 00:00:00
abstract::Two boys developed rhythmic involuntary movements in the extremities on one side of the body after febrile illness. They also showed behavioral disturbances. In both patients, serum antistreptolysin-O and antistreptokinase titers were elevated in acute illness and decreased a few months later. One patient showed tremo...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-7476
更新日期:2000-04-01 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
pub_type: 杂志文章
doi:10.1055/s-2000-15291
更新日期:2000-02-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-973505
更新日期:1999-12-01 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:PURPOSE OF THE STUDY:To collect data on both the natural history of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in children and their response to treatment. STUDY DESIGN:Retrospective multicentre study, using standardised criteria for the evaluation of hospital records and semi-quantitative scorin...
journal_title:Neuropediatrics
pub_type: 杂志文章,多中心研究
doi:10.1055/s-2007-973489
更新日期:1999-08-01 00:00:00
abstract::Incidence of sudden death in Rett syndrome is greater than that of the general population and cardiac electrical instability is a prime suspect cause. Our study shows that girls with Rett syndrome had significantly lower heart rate variability (marker of autonomic disarray) and longer corrected QT intervals compared w...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973480
更新日期:1999-06-01 00:00:00
abstract::Neurological examination and magnetic resonance imaging were performed in the neonatal period in 58 full-term infants who presented with hypoxic-ischaemic encephalopathy. The aim of this study was to evaluate the patterns of neurological abnormalities and their correlation to brain lesions on MRI. The prognostic value...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973465
更新日期:1999-04-01 00:00:00
abstract::Two sibs with an encephalopathy, including intracerebral calcification and a white matter disease, are reported. In the younger sister, the cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutières syndrome. Both sisters were affected by a spastic tetraplegia...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973455
更新日期:1999-02-01 00:00:00
abstract::The occurrence of mitochondrial mutations with primary pathogenic significance for Leber's hereditary optic neuropathy in patients with a multiple sclerosis-like phenotype and the preferential maternal transmission points to an involvement of the mitochondrial genome in conferring increased susceptibility to MS. To ev...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973583
更新日期:1998-12-01 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
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-973570
更新日期:1998-10-01 00:00:00
abstract::Congenital horizontal gaze paralysis is a rare disorder which may be associated with severe scoliosis of early onset. We present the clinical findings of two sisters with this syndrome. The additional finding of a unique pericentric inversion of chromosome 12 is considered to be incidental. Every child with congenital...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973565
更新日期:1998-08-01 00:00:00
abstract::Acute herpes simplex encephalitis (HSE) carries significant morbidity and mortality even after early treatment with antiviral agents (7). As well as causing acute neurological disease, Herpes viruses are associated with relapsing--remitting (Varicella--Zoster, Epstein-Barr) and chronic (Rasmussen encephalitis) disease...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973546
更新日期:1998-06-01 00:00:00
abstract::Careful clinical delineation and advances in analytical methods have opened new possibilities for the detection of inherited neurometabolic disorders, some of which require specific CSF analyses for diagnosis. Although patients suffering from these disorders have recognizable phenotypes, there are strong indications t...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2007-973538
更新日期:1998-04-01 00:00:00
abstract::We report a 7-year-old boy with serologic evidence of active Epstein-Barr virus (EBV) infection who developed transient unilateral hypoglossal nerve palsy, with complete recovery within 21 days. This is, to our knowledge, the youngest reported patient with isolated hypoglossal nerve palsy in the context of EBV infecti...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973534
更新日期:1998-02-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-973724
更新日期:1997-12-01 00:00:00
abstract::Infant botulism is caused by intestinal colonization by Clostridium botulinum, C. barati or C. butyricum. Infant botulism has only rarely been reported outside the USA. A 3-month-old boy developed constipation, lethargy, feeding difficulties and descending, severe, symmetric weakness. He was breastfed but had also bee...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973716
更新日期:1997-10-01 00:00:00
abstract::Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three child...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973701
更新日期:1997-08-01 00:00:00
abstract::We report on 12 children with neuronal ceroid lipofuscinosis (NCL) diagnosed between 1974-1995 in the West of Scotland. Diagnosis was made on the basis of clinical, electrophysiological, radiological and pathological examination including electron microscopy (EM) in all cases. Incidence was calculated on the basis of ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2007-973690
更新日期:1997-06-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-973681
更新日期:1997-04-01 00:00:00
abstract::Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children with a global incidence of 1 in 12,500. NCL are divided into three autosomal recessive subtypes, all assigned to different chromosomal loci. The infantile subtype of NCL (INCL) is characterized by early visual los...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973655
更新日期:1997-02-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-973665
更新日期:1997-02-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-973675
更新日期:1997-02-01 00:00:00
abstract::The aim of this study was to evaluate the incidence of functional and neuroradiological abnormalities of the corpus callosum in a group of 21 prematurely born children (GA < 34 weeks) who were found to be "clumsy" on the Movement Assessment Battery for Children at 6 years of age. All children underwent functional and ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973801
更新日期:1996-12-01 00:00:00
abstract::A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earli...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973778
更新日期:1996-10-01 00:00:00
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 distu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973788
更新日期:1996-08-01 00:00:00
abstract:BACKGROUND:Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973761
更新日期:1996-06-01 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::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
pub_type: 杂志文章
doi:10.1055/s-2007-979784
更新日期:1995-12-01 00:00:00
abstract::We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-979771
更新日期:1995-10-01 00:00:00
abstract::Hypomelanosis of Ito (HI) (incontinentia pigmenti achromians) with cerebellar atrophy and dysmorphic features is reported in a child. The association of cerebellar anomalies and HI has been previously reported in only four cases. However, since neuroimaging studies are not routinely obtained in these patients the freq...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-979755
更新日期:1995-08-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-979741
更新日期:1995-04-01 00:00:00
abstract::A forme fruste Rett variant female with partially preserved speech remnants is described. She was first seen by the author at an age of 4 years. She then presented with an unspecific syndrome of moderate mental retardation. At follow-up when aged 32 she had successively through the years developed a number of Rett cha...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-979730
更新日期:1995-04-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-979718
更新日期:1995-02-01 00:00:00
abstract::Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process. No sequence abnormalities were detected in the bcl-2 g...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073047
更新日期:1994-12-01 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
pub_type: 杂志文章
doi:10.1055/s-2008-1073026
更新日期:1994-10-01 00:00:00
abstract::Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073036
更新日期:1994-10-01 00:00:00
abstract::Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development with dysarthria and mental retardation. We studied fourteen children, seven ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1073020
更新日期:1994-08-01 00:00:00
abstract::A 7-year-old boy had symmetrical transient high signal lesions in the external capsules on T2-weighted image during the recovery phase of herpes simplex virus (HSV) encephalitis. Although this finding has never been reported in HSV or other viral encephalitis, a postinfectious allergic mechanism is suspected in this p...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073016
更新日期:1994-06-01 00:00:00
abstract::Over the past few years there has been increasing awareness of the association of congenital choanal atresia (CCA) with other congenital defects, including brain abnormalities. We obtained CT scans of the brain in twenty-three consecutive patients with CCA (10 boys and 13 girls) to determine the prevalence and the sco...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071591
更新日期:1994-04-01 00:00:00