Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

abstract：:Melatonin ( N-acetyl-5-methoxytryptamine, aMT) is an indoleamine produced by several organs and tissues including the pineal gland. Melatonin (aMT) modulates the activity of the brain, mainly acting on both GABA and glutamate receptors. Previous studies have shown the participation of melatonin in the control of convu...

journal_title：Neuropediatrics

authors： Molina-Carballo A,Muñoz-Hoyos A,Sánchez-Forte M,Uberos-Fernández J,Moreno-Madrid F,Acuña-Castroviejo D

更新日期：2007-06-01 00:00:00

abstract：:At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively...

journal_title：Neuropediatrics

authors： Goebel HH,Halbig LE,Goldfarb L,Schober R,Albani M,Neuen-Jacob E,Voit T

更新日期：2001-08-01 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

authors： Kimura S,Nezu A,Osaka H,Saito K

更新日期：1994-06-01 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

authors： Putman CW,Rotteveel JJ,Wevers RA,van Gennip AH,Bakkeren JA,De Abreu RA

更新日期：1997-04-01 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

authors： Muntau AC,Röschinger W,Merkenschlager A,van der Knaap MS,Jakobs C,Duran M,Hoffmann GF,Roscher AA

更新日期：2000-06-01 00:00:00

abstract：:Two patients who postoperatively developed extensive multiseptated hydrosyringomyelia following surgical repair of a lumbal meningomyelocele are reported. Since MRI has been available, an increasing number of reports showed that MRI is useful in the diagnosis of hydrosyringomyelia. Hydrosyringomyelia can be considered...

journal_title：Neuropediatrics

authors： van Hall MH,Beuls EA,Wilmink JT,Boiten J,Vles JS

更新日期：1992-10-01 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

authors： Pascual-Castroviejo I,Pascual-Pascual SI,Velazquez-Fragua R,Botella P,Viaño J

更新日期：2007-04-01 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

authors： Lidzba K,Granstroem S,Leark RA,Kraegeloh-Mann I,Mautner VF

更新日期：2014-08-01 00:00:00

abstract：:Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypop...

journal_title：Neuropediatrics

authors： Wisniewski K,Dambska M,Sher JH,Qazi Q

更新日期：1983-11-01 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

authors： Pini G,Faulkner LB

更新日期：1995-08-01 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

authors： Hellsten E,Vesa J,Jalanko A,Peltonen L

更新日期：1997-02-01 00:00:00

abstract：:Purpose In periventricular leukomalacia (PVL), apparent diffusion coefficient (ADC) reduction, normally shown as dark stripe in the peritrigonal (PT) white matter, may be incomplete. We assessed the PT dark stripe to differentiate between PVL patients and control subjects. Patients and Methods We reviewed the magnetic...

journal_title：Neuropediatrics

authors： Lu PS,Toh CH,Yeh CH,Wang HS,Lin KL,Wong AM

更新日期：2017-04-01 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

authors： Steinlin M,Schmid M,Landau K,Boltshauser E

更新日期：1997-08-01 00:00:00

abstract：:In two children affected with "Epilepsia Partialis Continua" (EPC) of progressive type, probably secondary to a slow encephalitis, the percentage of T-lymphocytes in CSF was lower than normal (30% compared to 90%). The CSF-T-lymphocytes are characterized by their ability to form E-rosettes. In one patient signs of int...

journal_title：Neuropediatrics

authors： Gaggero R,Ferraris PC,De Negri M

更新日期：1990-08-01 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

authors： Kieseier BC,Wisniewski KE,Schuller-Levis G,Park E,Goebel HH

更新日期：1996-08-01 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

authors： Korinthenberg R

更新日期：1999-08-01 00:00:00

abstract：OBJECTIVE:This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging. METHODS:We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an ab...

journal_title：Neuropediatrics

authors： Blumkin L,Lerman-Sagie T,Westenberger A,Ben-Pazi H,Zerem A,Yosovich K,Lev D

更新日期：2018-08-01 00:00:00

abstract：:This study aimed to investigate the global oxidant/antioxidant status of infants with perinatal asphyxia and its relation to neurological outcomes. A prospective controlled study including term infants with perinatal asphyxia was conducted. Blood samples were obtained from patients and controls at 6-24 h and on the 3r...

journal_title：Neuropediatrics

authors： Aydemir O,Akar M,Uras N,Eras Z,Erdeve O,Oguz SS,Dilmen U

更新日期：2011-12-01 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

authors： Romeo DM,Cioni M,Distefano A,Battaglia LR,Costanzo L,Ricci D,De Sanctis R,Romeo MG,Mazzone D,Mercuri E

更新日期：2010-06-01 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：: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

authors： Pavone L,Gullotta F,Grasso S,Vannucchi C

更新日期：1986-11-01 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：: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

authors： Hoffmann GF,Surtees RA,Wevers RA

更新日期：1998-04-01 00:00:00

abstract：:Activin A is a multifunctional growth and differentiation factor belonging to the transforming growth factor β (TGF-β) family. Growing evidence indicates its role as a neurotrophic factor and regulator of synaptic transmission as well as its functional importance in several types of cerebral injury. We recently descri...

journal_title：Neuropediatrics

authors： Brackmann FA,Alzheimer C,Trollmann R

更新日期：2015-04-01 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

authors： Domingos J,Sarkozy A,Scoto M,Muntoni F

更新日期：2017-08-01 00:00:00

abstract：:Forty patients suffering from neuronal ceroid lipofuscinosis, 33 of the juvenile type (JNCL) and 7 of the infantile type (INCL), underwent a brain CT. All INCL patients showed severe atrophic changes which were most pronounced supratentorially and in the brainstem. The white matter was hypodense and markedly reduced a...

journal_title：Neuropediatrics

authors： Raininko R,Santavuori P,Heiskala H,Sainio K,Palo J

更新日期：1990-05-01 00:00:00

abstract：:In recent years, intrathecal baclofen (ITB) has attained an important role in the treatment of severe spasticity and dystonia in children. There are principal differences between the use of ITB in children and its use in neurology and oncology in adults. Here, we present a consensus report on best practice for the tre...

journal_title：Neuropediatrics

authors： Berweck S,Lütjen S,Voss W,Diebold U,Mücke KH,Aisch A,Ostertag B,Friedrich M,Wagner C,Kudernatsch M,Granel M,Kluger G,Ludwikowski B,Peraud A,Rauchenzauner M,Schroeder AS,Sprinz A,Wienand R,Wilken B,Kästner S,Zeches

更新日期：2014-10-01 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：: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

authors： Oguz KK,Anlar B,Senbil N,Cila A

更新日期：2004-10-01 00:00:00

abstract：:A 1-year and 11-month-old female infant with bilateral lesions of the thalamus, basal ganglia, cerebellar and brainstem disease died from heart failure 9 days after being administered a measles vaccination. She had a high fever, hypocarnitinemic and non-ketotic hypoglycemia, serum levels of total carnitine 7.4 micromo...

journal_title：Neuropediatrics

authors： Okanari K,Takahashi M,Maeda T,Sato K,Suenobu S,Izumi T

更新日期：2007-12-01 00:00:00