Influenza a-associated acute necrotizing encephalopathy.

abstract：:Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are ...

journal_title：Neuropediatrics

authors： Mall V,Heinen F,Uhl M,Wellens E,Korinthenberg R

更新日期：2000-08-01 00:00:00

abstract：:Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anteri...

journal_title：Neuropediatrics

authors： Philippart M,da Silva E,Chugani HT

更新日期：1997-02-01 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：:A human neuroblastoma cell line, LA-N-1 was used as a target cell in a I131 radiolabeled staphylococcal protein-A (I131-SpA) binding assay, to characterize the pattern of antineuronal activity of human sera in fifty-four cases of systemic lupus erythematosus (SLE) including twenty-six patients with neuropsychiatric ma...

journal_title：Neuropediatrics

authors： Danon YL,Garty BZ

更新日期：1986-02-01 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

authors： Van Beusichem AE,Nicolai J,Verhoeven J,Speth L,Coenen M,Willemsen MA,Kamsteeg EJ,Stumpel C,Vermeulen RJ

更新日期：2020-04-01 00:00:00

abstract：:We report antiphospholipid antibody positivity in three of a consecutive series of 23 children presenting partial epileptic seizures. There was no clinical or serological evidence of systemic lupus erythematosus or other connective-tissue disease. Neither computed tomography nor magnetic resonance imaging revealed isc...

journal_title：Neuropediatrics

authors： Angelini L,Granata T,Zibordi F,Binelli S,Zorzi G,Besana C

更新日期：1998-10-01 00:00:00

abstract：OBJECTIVE:To investigate the association between blood mercury level and attention-deficit hyperactivity disorder (ADHD) in Chinese children in Hong Kong. METHODS:Fifty-two children with ADHD aged below 18 years diagnosed by DSM IV criteria without perinatal brain insults, mental retardation or neurological deficits w...

journal_title：Neuropediatrics

authors： Cheuk DK,Wong V

更新日期：2006-08-01 00:00:00

abstract：:Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course...

journal_title：Neuropediatrics

authors： Bousounis DP,Camfield PR,Wolf B

更新日期：1993-08-01 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：: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

authors： Lampe R,Turova V,Botkin N,Eckardt L,Felderhoff-Müser U,Rieger-Fackeldey E,Alves-Pinto A,Kovtanyuk A,Sidorenko I

更新日期：2019-04-01 00:00:00

abstract：:Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new ins...

journal_title：Neuropediatrics

authors： Nassogne MC,Henrot B,Saint-Martin C,Kadhim H,Dobyns WB,Sébire G

更新日期：2000-08-01 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：:Fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia. We report a Canadian male, with clinical features similar to previously reported fucosidosis patients, however, since age 5 he ...

journal_title：Neuropediatrics

authors： Gordon BA,Gordon KE,Seo HC,Yang M,DiCioccio RA,O'Brien JS

更新日期：1995-12-01 00:00:00

abstract：:We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophtha...

journal_title：Neuropediatrics

authors： Maytal J,Spiro AJ,Sinnar S,Moshe SL

更新日期：1987-02-01 00:00:00

abstract：:Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion...

journal_title：Neuropediatrics

authors： Brockmann K,Gröschel S,Dreha-Kulaczewski S,Reinhardt K,Gärtner J,Dechent P

更新日期：2009-10-01 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：: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

authors： Mercuri E,Guzzetta A,Haataja L,Cowan F,Rutherford M,Counsell S,Papadimitriou M,Cioni G,Dubowitz L

更新日期：1999-04-01 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：PURPOSE:The term clinical functional magnetic resonance imaging (fMRI) describes an examination with direct clinical impact on the patient. Interpretation of clinical fMRI especially in children, however, is often difficult due to suboptimal data quality. The current gold standard is standardized visual evaluation. To ...

journal_title：Neuropediatrics

authors： Zsoter A,Staudt M,Wilke M

更新日期：2012-10-01 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：: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：: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

authors： Rudnik-Schöneborn S,Stolz P,Varon R,Grohmann K,Schächtele M,Ketelsen UP,Stavrou D,Kurz H,Hübner C,Zerres K

更新日期：2004-06-01 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：: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：OBJECTIVE:The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS:Nine pat...

journal_title：Neuropediatrics

authors： Mercuri E,Counsell S,Allsop J,Jungbluth H,Kinali M,Bonne G,Schwartz K,Bydder G,Dubowitz V,Muntoni F

更新日期：2002-02-01 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：:Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe) was originally described as a paraneoplastic disease with more than 50% cases involving a tumor. However, tumor incidence in anti-NMDARe in children is much lower. Herpes simplex virus-induced anti-NMDARe has been well-described; however, findings on Japane...

journal_title：Neuropediatrics

authors： Tian M,Li J,Lei W,Shu X

更新日期：2019-04-01 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

authors： Pascual-Castroviejo I,Gutierrez M,Morales C,Gonzalez-Mediero I,Martínez-Bermejo A,Pascual-Pascual SI

更新日期：1994-08-01 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：:Galloway-Mowat syndrome (GMS) is a rare autosomal-recessive disorder characterised by nephrotic syndrome, microcephaly, and variable brain anomalies. The prognosis is poor with death almost inevitably supervening before the age of 6 years, but atypical cases with later onset of proteinuria and a more protracted course...

journal_title：Neuropediatrics

authors： Steiss JO,Gross S,Neubauer BA,Hahn A

更新日期：2005-10-01 00:00:00