Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

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：: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

authors： Liu GT,Hunter J,Miki A,Fletcher DW,Brown L,Haselgrove JC

更新日期：2000-02-01 00:00:00

abstract：:We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and ...

journal_title：Neuropediatrics

authors： Fenzi F,Simonati A,Crosato F,Ghersini L,Rizzuto N

更新日期：1993-10-01 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：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：BACKGROUND:Sleep is known to improve the yield of EEG recording in children but is often difficult to obtain. In order to evaluate the efficacy and to test the practicability of oral melatonin in obtaining sleep for EEG recording, we studied its use in 70 children. RESULTS:Sleep was obtained in 56 children (80%) with ...

journal_title：Neuropediatrics

authors： Eisermann M,Kaminska A,Berdougo B,Brunet ML

更新日期：2010-08-01 00:00:00

abstract：:Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...

journal_title：Neuropediatrics

authors： El-Hajj TI,Karam PE,Mikati MA

更新日期：2008-10-01 00:00:00

abstract：:A Japanese girl showed deterioration in development from the age of 13 months. At the age of 16 months, there were mild spastic diplegia, increase in cerebrospinal fluid protein to 61.5 mg/dl and deficient galactosylceramidase I. Magnetic resonance imaging (MRI) demonstrated a high signal intensity with increased T2 i...

journal_title：Neuropediatrics

authors： Kurokawa T,Chen YJ,Nagata M,Hasuo K,Kobayashi T,Kitaguchi T

更新日期：1987-08-01 00:00:00

abstract：:Seven epileptic patients with permanent ataxic dysfunction following DPH treatment are described. The ataxia correlates with cerebellar atrophy, though the extents of clinical and structural lesions are not necessarily proportional. Cerebellar atrophy is demonstrated by CT scans, the vermal region seems to be predomin...

journal_title：Neuropediatrics

authors： Baier WK,Beck U,Doose H,Klinge H,Hirsch W

更新日期：1984-05-01 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

authors： Chen YJ,Kurokawa T,Kitamoto I,Ueda K

更新日期：1989-02-01 00:00:00

abstract：:Aim For children with medical complexity, interdisciplinary treatment approaches are required to address the various aspects defined within the biopsychosocial model. Methods The present study identifies dimensions of the biopsychosocial model to generate a standardized visualized severity score for chronic neurologic...

journal_title：Neuropediatrics

authors： Krieg SM,Sonanini S,Sollmann N,Focke A,Gerstl L,Heinen F

更新日期：2016-08-01 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

authors： Jäntti V,Eriksson K,Hartikainen K,Baer GA

更新日期：1994-10-01 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：:Sleep polygraphic recording was carried out on 52 normal full-term babies. 16 infants were recorded at 2 - 7 days of age, 14 at 2 to 5 weeks, 13 at 6 to 9 weeks and 9 at 10 - 13 weeks. Central apneas of 2 sec and over were analysed in Active Sleep (AS), Quiet Sleep (QS) and Transitional Sleep (TS). Apnea Index (AI, pe...

journal_title：Neuropediatrics

authors： Flores-Guevara R,Plouin P,Curzi-Dascalova L,Radvanyi MF,Guidasci S,Pajot N,Monod N

更新日期：1982-05-01 00:00:00

abstract：:Introduction Guillain-Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)-FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG-FcγR interacti...

journal_title：Neuropediatrics

authors： Mansour LA,Girgis MY,Abdulhay M,ElEinein EI,ElHawary R,Hanna MO

更新日期：2016-06-01 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

authors： Göbel U

更新日期：1994-02-01 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：: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

authors： Wilichowski E,Ohlenbusch A,Hanefeld F

更新日期：1998-12-01 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

authors： Heiderich S,Dennhardt N,Hartmann H,Kluger GJ,Sümpelmann R,Herberhold T

更新日期：2020-12-01 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

authors： Barone R,Nigro F,Triulzi F,Musumeci S,Fiumara A,Pavone L

更新日期：1999-10-01 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

authors： Vannest J,Rasmussen J,Eaton KP,Patel K,Schmithorst V,Karunanayaka P,Plante E,Byars A,Holland S

更新日期：2010-10-01 00:00:00

abstract：:Clinico-radiologic correlations, using CT, were studied in 29 patients with ataxic cerebral palsy. The scans were normal or only slightly abnormal in 38%, posterior fossa abnormalities occurred in 28%, and 55% had obvious cerebral abnormalities which always involved the parietal lobes. There were only two cases where ...

journal_title：Neuropediatrics

authors： Miller G,Cala LA

更新日期：1989-05-01 00:00:00

abstract：:Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations...

journal_title：Neuropediatrics

authors： Rougeot C,Chabrier S,Camdessanche JP,Prieur F,d'Anjou MC,Latour P

更新日期：2008-06-01 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

authors： Ostergaard JR,Christensen T,Nehen AM

更新日期：1999-02-01 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

authors： Hecher L,Johannsen J,Bierhals T,Buhk JH,Hempel M,Denecke J

更新日期：2020-12-01 00:00:00

abstract：:Nusinersen, an antisense oligonucleotide enhancing the production of the survival motor neuron protein, is approved for the treatment of spinal muscular atrophy (SMA) but requires repetitive lumbar punctures. Application via a subcutaneous port connected to a permanent intrathecal catheter has been proposed as an alte...

journal_title：Neuropediatrics

authors： Flotats-Bastardas M,Hahn A,Schwartz O,Linsler S,Meyer S,Kolodziej M,Koehler C

更新日期：2020-12-01 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 present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...

journal_title：Neuropediatrics

authors： van Nieuwenhuizen O,Willemse J

更新日期：1988-02-01 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：: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