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 increased diffusion in one patient. This variability in DWI findings can be related to the histological stage of the disease at the time of imaging, ranging from intracellular metachromatic material accumulation to breakdown of myelin membranes.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Oguz KK,Anlar B,Senbil N,Cila Adoi
10.1055/s-2004-821301subject
Has Abstractpub_date
2004-10-01 00:00:00pages
279-82issue
5eissn
0174-304Xissn
1439-1899journal_volume
35pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全abstract::We report on the complication of gastroesophageal reflux (GER) in four patients with lower brainstem dysfunction. These patients suffered from perinatal asphyxia, cerebellar hemorrhage, or congenital dysphagia of unknown origin and showed facial nerve palsy, inspiratory stridor due to vocal cord paralysis, central sle...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2006-924428
更新日期:2006-06-01 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
pub_type: 杂志文章
doi:10.1055/s-2007-985901
更新日期:2007-10-01 00:00:00
abstract::Headaches in children and adolescents remain a very common problem with migraine being the most common headache disorder to present to medical attention. The approach to the treatment of migraine in children has consisted of treatment with acute and preventive medications, combined with lifestyle modification and beha...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1695785
更新日期:2019-12-01 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::Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with Sturge-Weber syndrome (SWS). Aged 7, 9, 11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071483
更新日期:1990-08-01 00:00:00
abstract::A special form of partial occipital epilepsy clinically resembling migraine and possibly related to the benign focal epilepsies of childhood has recently attracted attention (Gastaut 1982) but its existence is still debated. To approach this problem, in a group of 195 children with idiopathic partial or generalized ep...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052355
更新日期:1984-08-01 00:00:00
abstract::The diagnosis of mitochondrial respiratory chain deficiency is usually made by analysis of mitochondrial respiratory chain activity in muscle biopsy. We describe 4 patients in whom the diagnosis was based on mitochondrial respiratory chain deficiency in liver alone. In 3 patients, liver complex IV activity was deficie...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2005-865866
更新日期:2005-08-01 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
pub_type: 杂志文章
doi:10.1055/s-2000-7497
更新日期:2000-06-01 00:00:00
abstract:AIM: Attention deficit with or without hyperactivity (AD[H]D) is a common comorbidity of neurofibromatosis type 1 (NF 1). We tested the hypothesis that permanent medication with methylphenidate can improve cognitive functioning in children with NF 1 and comorbid AD(H)D. PATIENTS AND METHOD: We retrospectively analyzed...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1368117
更新日期:2014-08-01 00:00:00
abstract::B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-1684004
更新日期:2019-06-01 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::The fatty acid pattern of serum lecithin was studied in 31 children with hereditary motor and sensory neuropathies (HMSN) of types specified in the classification of Dyck et al. (1975). In 30 children no relevant changes were revealed. The remaining patient had changes which were reversible and were considered to be i...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059635
更新日期:1981-02-01 00:00:00
abstract::Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder associated with typical clinical and imaging features such as bilateral symmetrical polymicrogyria, either exclusively or mainly affecting the perisylvian region of the brain. We present a girl with the typical clinical picture of a CBPS ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1710588
更新日期:2020-12-01 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::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::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::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
pub_type: 杂志文章
doi:10.1055/s-2008-1071490
更新日期:1990-11-01 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
pub_type: 杂志文章
doi:10.1055/s-0038-1677515
更新日期:2019-04-01 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
pub_type: 杂志文章
doi:10.1055/s-2001-13873
更新日期:2001-04-01 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
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1071573
更新日期:1994-02-01 00:00:00
abstract::Functional MRI mapping of language areas in children frequently employs a covert verb generation task. Because responses are not monitored, the relationship between fMRI activation and task performance is unknown. We compared fMRI activation during covert and overt verb generation to performance during the overt task....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1267982
更新日期:2010-10-01 00:00:00
abstract::Epilepsy is often associated with psychosocial comorbidity and this can be more disabling than the seizure activity. Still, these associated conditions are often underdiagnosed and therefore not sufficiently treated. We studied a large pediatric cohort of 371 patients with epilepsy to identify factors associated with ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-3399529
更新日期:2020-04-01 00:00:00
abstract::The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of th...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1059546
更新日期:1983-02-01 00:00:00
abstract::134 preterm infants were investigated in their ability to coordinate sucking and breathing. Of those infants who did not coordinate, 79% showed immature cardiorespiratory control whereas of those who suck and breathe simultaneously only 12% had poor cardiorespiratory control. This finding suggests that in infants with...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071449
更新日期:1990-02-01 00:00:00
abstract:AIM: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenolo...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1722689
更新日期:2021-01-14 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::Acute inflammatory processes of the brain tissue and meninges caused by viruses are relatively common and may be caused by a number of different viral agents. The specific etiological agent is not identified in many instances. Most cases completely recover. The prognosis depends upon the severity of the clinical illne...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2006-924164
更新日期:2006-06-01 00:00:00
abstract::Twenty Japanese children with Moyamoya disease were investigated by examining the multimodality evoked potentials (BAEPs, FVEPs and SSEPs). BAEPs were abnormally prolonged wave I-III and wave III-V in each one (10%). FVEPs were abnormal in 6 (30%), included prolonged latencies, reduced amplitudes and poor waveform in ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071259
更新日期:1989-02-01 00:00:00
abstract::Juvenile myasthenia gravis (JMG) is an autoimmune disorder of neuromuscular transmission caused by production of antibodies against components of the postsynaptic membrane of the neuromuscular junction. Ethnicity has influence on incidence, clinical presentation, and the course of the disease. The patients present wit...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1364181
更新日期:2014-04-01 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