Absence of adrenergic neurons in nucleus tractus solitarius in sudden infant death syndrome.

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

authors： Cavanagh NP,Brett EM,Marshall WC,Wilson J

更新日期：1981-11-01 00:00:00

abstract：OBJECTIVE:With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. PATIENTS AND METHODS:A total of 15 patients with LCC wer...

journal_title：Neuropediatrics

authors： Livingston JH,Mayer J,Jenkinson E,Kasher P,Stivaros S,Berger A,Cordelli DM,Ferreira P,Jefferson R,Kutschke G,Lundberg S,Ounap K,Prabhakar P,Soh C,Stewart H,Stone J,van der Knaap MS,van Esch H,van Mol C,Wakeling E,

更新日期：2014-06-01 00:00:00

abstract：:Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an impaired neuromuscular transmission. Exact prevalence data are not available, approximately 2000 to 3000 patients worldwide have been diagnosed on a molecular level; mutations in 14 different genes are...

journal_title：Neuropediatrics

authors： Schara U,Della Marina A,Abicht A

更新日期：2012-08-01 00:00:00

abstract：:Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has prim...

journal_title：Neuropediatrics

authors： Alfadhel M,Tabarki B

更新日期：2018-04-01 00:00:00

abstract：:Brainstem auditory evoked potentials (BAEP) were studied in 93 newborns (49 preterm and 44 fullterm) admitted to the neonatal intensive care unit. One group of 42 infants (28-42 wk CA) were considered at low risk for perinatal complications and served to establish the normal ranges of the BAEP parameters (wave I peak ...

journal_title：Neuropediatrics

authors： Streletz LJ,Graziani LJ,Branca PA,Desai HJ,Travis SF,Mikaelian DO

更新日期：1986-05-01 00:00:00

abstract：BACKGROUND:Leukoencephalopathy associated with dysmorphic features may be attributed to chromosomal abnormalities such as 17p13.3 microdeletion syndrome. CASE:A 19-year-old female patient was referred to our hospital for diagnostic evaluation of her leukoencephalopathy. She demonstrated moderate intellectual disabilit...

journal_title：Neuropediatrics

authors： Hirasawa-Inoue A,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sugai K,Inoue K,Goto YI,Sasaki M

更新日期：2019-12-01 00:00:00

abstract：:The phenotypic expression of X-linked adrenoleukodystrophy (X-ALD) ranges from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy (AMN) in adults. It is not possible to predict phenotype by mutation analysis or biochemical assays. This study reports on 372 patients ranging in age from ...

journal_title：Neuropediatrics

authors： Moser HW,Loes DJ,Melhem ER,Raymond GV,Bezman L,Cox CS,Lu SE

更新日期：2000-10-01 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

authors： Rejjal A,Alaiyan S,Coates R,Abuzeid M

更新日期：1994-04-01 00:00:00

abstract：:Fifty-five patients with microcephaly (head circumference < -2SD) were identified. The 55 patients were divided into two groups, consisting of group 1 (34 cases) in which genetic causes were considered primary, and group 2 (21 cases) in which intrauterine and/or postnatal acquired factors were thought to be responsibl...

journal_title：Neuropediatrics

authors： Sugimoto T,Yasuhara A,Nishida N,Murakami K,Woo M,Kobayashi Y

更新日期：1993-02-01 00:00:00

abstract：:Fibromuscular dysplasia is a segmental, nonatheromatous angiopathy. A 13-year-old patient is reported with stroke. Left-sided carotid angiogram revealed typical findings of fibromuscular dysplasia in the left carotid artery. ...

journal_title：Neuropediatrics

authors： Emparanza JI,Aldamiz-Echevarria L,Perez-Yarza E,Hernandez J,Peña B,Gaztañaga R

更新日期：1989-08-01 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

authors： Hackenberg A,Baumer A,Sticht H,Schmitt B,Kroell-Seger J,Wille D,Joset P,Papuc S,Rauch A,Plecko B

更新日期：2014-08-01 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

authors： Shuto H,Yasuhara A,Sugimoto T,Iwase S,Kobayashi Y,Nakamura M

更新日期：1987-11-01 00:00:00

abstract：:We report a nine-year-old boy with the features of Leigh syndrome (LS) and a severe cytochrome-c oxidase (COX) deficiency with a single thymidine insertion at nucleotide position 5537 (T 5537i) in the tRNA Trp gene of mitochondrial DNA. During infancy the boy was irritable and hypotonus was noticed. Early motor develo...

journal_title：Neuropediatrics

authors： Tulinius M,Moslemi AR,Darin N,Westerberg B,Wiklund LM,Holme E,Oldfors A

更新日期：2003-04-01 00:00:00

abstract：:Between 1970 and 1986, 120 children with central nervous system malignancy were treated with radiation therapy. These included 44 low-grade astrocytomas, 11 high grade astrocytomas, 32 medulloblastomas, 15 ependymomas/ependymoblastomas, 3 primitive neuroectodermal tumors and 8 pineal tumors. Seven children were treate...

journal_title：Neuropediatrics

authors： Avizonis VN,Fuller DB,Thomson JW,Walker MJ,Nilsson DE,Menlove RL

更新日期：1992-10-01 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

authors： Deonna T,Ziegler AL,Despland PA

更新日期：1984-08-01 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

authors： Alhusani A,Obaid A,Blom HJ,Wedell A,Alfadhel M

更新日期：2019-02-01 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

authors： Hashimoto T,Tayama M,Miyazaki M,Kuroda Y

更新日期：1991-08-01 00:00:00

abstract：BACKGROUND:In Rett syndrome the autonomic nervous system is abnormal at various levels, from the central to the peripheral nervous system. A role for serotoninergic dysfunction has been suggested. OBJECTIVES:The aim of our study was to evaluate the relation between cardiac dysautonomia (expressed by means of heart rat...

journal_title：Neuropediatrics

authors： Guideri F,Acampa M,Blardi P,de Lalla A,Zappella M,Hayek Y

更新日期：2004-02-01 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

authors： Cremades A,Peñafiel R,Monserrat F,Ceron I,Perez-Flores D

更新日期：1989-08-01 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

authors： Steffen H,Rauterberg-Ruland I,Breitbach N,Thomsen M,Kolling GH

更新日期：1998-08-01 00:00:00

abstract：:Improvement of the prognosis for children suffering from hydrocephalus requires prompt diagnosis and reliable indication of surgical treatment. Today, intrauterine hydrocephalus is detectable within the first three months of pregnancy; in infancy, before the cranial sutures have fused, pathological growth of the head ...

journal_title：Neuropediatrics

authors： Gaab MR,Koos WT

更新日期：1984-10-01 00:00:00

abstract：:The effects of malnutrition on conduction in peripheral and central somatosensory pathways in humans, as measured by short-latency somatosensory evoked potentials (SEPs) have not been previously reported. A group of 28 children with kwashiorkor were compared to a control group of 35 children, aged 6-36 months. The mal...

journal_title：Neuropediatrics

authors： Bartel PR,Conradie JM,Robinson E,Prinsloo JG,Becker P

更新日期：1989-02-01 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：: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

authors： Scheffer IE,Baraitser M,Wilson J,Godfrey C,Brett EM

更新日期：1992-02-01 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

authors： Tountopoulou M,Weschke B,Kaindl AM

更新日期：2017-06-01 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

authors： Fujimoto S,Yokochi K,Nakano M,Wada Y

更新日期：1995-10-01 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

authors： Sorlin A,Briand G,Cheillan D,Wiedemann A,Montaut-Verient B,Schmitt E,Feillet F

更新日期：2016-06-01 00:00:00

abstract：BACKGROUND:Advanced modalities such as functional magnetic resonance imaging (MRI) and diffusion MR tractography offer in vivo information about brain networks and are therefore increasingly used for neurosurgical planning in children also. AIM:This study aims to study the application of routine and advanced tractogra...

journal_title：Neuropediatrics

authors： Küpper H,Groeschel S,Alber M,Klose U,Schuhmann MU,Wilke M

更新日期：2015-02-01 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：: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