Abstract:
:A case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory infection of unknown etiology. Magnetic resonance imaging showed transient pontine lesions, disappearing in the convalescence phase. Laboratory tests established the etiologic diagnosis of post-infectious encephalitis. An allergic autoimmune response with subsequent demyelinisation is assumed. The important role of MR-imaging in similar acute syndromes is emphasized.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Groen RJ,Begeer JH,Wilmink JT,le Coultre Rdoi
10.1055/s-2008-1071446subject
Has Abstractpub_date
1991-11-01 00:00:00pages
225-7issue
4eissn
0174-304Xissn
1439-1899journal_volume
22pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全abstract::Neonatal seizures are the most prevalent and distinctive sign of neurologic dysfunction in early life and pose an immense challenge for clinicians. Improvements in neonatal care have increased the survival rate of extremely premature infants, considerably changing the spectrum of underlying etiologies, and instigating...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1693149
更新日期:2019-10-01 00:00:00
abstract::Dravet syndrome presents with generalized and unilateral clonic or clonic-tonic seizures that occur during the first year of life, followed by severe epilepsy. Prolonged seizures are often provoked by fever and usually followed by recovery of the previous condition. We describe the case of a 13-month-old girl with Dra...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1327772
更新日期:2013-06-01 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:OBJECTIVES:The present study investigates the effect of topical injections of botulinum toxin A into the cephalic salivary glands of children with chronic hypersalivation due to neurodegenerative diseases. METHODS:Five children with hypersalivation due to severe neurological diseases received, under ultrasound guidanc...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-37084
更新日期:2002-12-01 00:00:00
abstract:PURPOSE:Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to maintain ketosis while preventing hypoglycemia. Unfortunately, there is...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1715634
更新日期:2020-12-01 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::We here report a 13-year-old Marfan patient who suffered from severe, medication-resistant, intermittent headache, which was provoked when getting into an upright position and immediately relieved by lying down or after intravenous rehydration. The postural benefit and the sudden relief after intravenous hydration sug...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1243164
更新日期:2009-08-01 00:00:00
abstract::Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin def...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1621721
更新日期:2018-04-01 00:00:00
abstract::In order to examine if specific findings from CT correlate with specific clinical or neurological findings, 30 children, 5 to 16 years old, born at term, affected by congenital hemiparesis without intellectual impairment, were submitted to neurofunctional and psychological assessment and examined by CT. 28 of the 30 c...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052456
更新日期:1987-05-01 00:00:00
abstract::Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported an improvement of peroxisomal functions with l-arginine supplementation in fibroblasts with ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1578798
更新日期:2016-06-01 00:00:00
abstract::We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Diseas...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2004-820994
更新日期:2004-06-01 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::GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively. This intralysosomal...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052389
更新日期:1984-09-01 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
pub_type: 杂志文章
doi:10.1055/s-2008-1071495
更新日期:1990-11-01 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::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::The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis o...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052531
更新日期:1986-11-01 00:00:00
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
pub_type: 杂志文章
doi:10.1055/s-2001-16616
更新日期:2001-06-01 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::The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059594
更新日期:1982-02-01 00:00:00
abstract::Using the Doppler technique, we followed the postnatal changes of the cerebral blood flow velocity longitudinally. Pulsatility index (PI) was measured in 91 neonates. In 26 normal term infants who were supine, PIs were initially raised (PI = 0.91 +/- 0.10), gradually falling over the first 12 hours after birth and rem...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052484
更新日期:1987-11-01 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
pub_type: 杂志文章
doi:10.1055/s-2008-1059648
更新日期:1981-05-01 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: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
pub_type: 杂志文章
doi:10.1055/s-0038-1676287
更新日期:2019-06-01 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::The aims of the present study were: to examine the quality of life (QOL) of parents of children with cerebral palsy (CP) and to establish the possible effect of behaviour problems on their QOL. One-hundred children with CP, aged between 4 and 10 years, and both their parents were included in the study. Both parents co...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1262841
更新日期:2010-06-01 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::Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10-18 years), focusin...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-3400988
更新日期:2020-04-01 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
pub_type: 杂志文章
doi:10.1055/s-2005-872877
更新日期:2005-12-01 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