Successful management of drooling with botulinum toxin A in neurologically disabled children.

abstract：:Etiological factors and long-term prognosis were studied in 562 cases with convulsive disorders in the first year of life; 114 (20.3%) were prenatal, 114 (20.3%) perinatal, 24 (4.3%) postnatal, and 257 cases (45.7%) were cryptogenic. The remaining 53 (9.4%) patients were doubtful cases. The mortality before six years ...

journal_title：Neuropediatrics

authors： Matsumoto A,Watanabe K,Sugiura M,Negoro T,Takaesu E,Iwase K

更新日期：1983-11-01 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：: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

authors： Ramantani G,Schmitt B,Plecko B,Pressler RM,Wohlrab G,Klebermass-Schrehof K,Hagmann C,Pisani F,Boylan GB

更新日期：2019-10-01 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：: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 establish...

journal_title：Neuropediatrics

authors： Groen RJ,Begeer JH,Wilmink JT,le Coultre R

更新日期：1991-11-01 00:00:00

abstract：:The diagnosis of mitochondrial respiratory chain deficiency is usually made by analysis of mitochondrial respiratory chain activity in muscle biopsy. We describe 4 patients in whom the diagnosis was based on mitochondrial respiratory chain deficiency in liver alone. In 3 patients, liver complex IV activity was deficie...

journal_title：Neuropediatrics

authors： Panetta J,Gibson K,Kirby DM,Thorburn DR,Boneh A

更新日期：2005-08-01 00:00:00

abstract：:In a retrospective, non-random study, the effect of supplementary medical treatment (Dexamethasone, barbiturates) was investigated upon the prognosis of severe head injuries. Of 107 children and adolescents up to 16 years of age, 51 were treated with Dexamethasone; 56 received only standard therapy. Evaluation of the ...

journal_title：Neuropediatrics

authors： Kretschmer H

更新日期：1983-08-01 00:00:00

abstract：:A 23-year-old female patient with clinical manifestations typical of Down's syndrome progressively developed intensifying weakness of the proximal muscles from the age of 16 years. CK levels were distinctly elevated. Electromyography showed myogenic lesions and muscle biopsy a myopathic image with extensive fibre hype...

journal_title：Neuropediatrics

authors： Mielke U,Schimrigk K,Edlinger H

更新日期：1988-08-01 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

authors： Goebel HH

更新日期：1984-09-01 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：: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

authors： Hiraiwa-Sofue A,Ito Y,Ohta R,Kimura H,Okumura A

更新日期：2013-06-01 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：:Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...

journal_title：Neuropediatrics

authors： Bernard V,Stricker S,Kreuz F,Minnerop M,Gillessen-Kaesbach G,Zühlke C

更新日期：2008-12-01 00:00:00

abstract：:Data coming from a prospective multidisciplinary study with repeated examinations of children with fetal alcohol syndrome (FAS) are reported. These patients underwent pediatric, neurological and psychiatric assessment, EEG-recordings and psychological testing. After a period of 3-4 years various subgroups of these chi...

journal_title：Neuropediatrics

authors： Spohr HL,Steinhausen HC

更新日期：1987-02-01 00:00:00

abstract：:Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...

journal_title：Neuropediatrics

authors： Anestis DM,Tsitsopoulos PP,Ble CA,Tsitouras V,Tsonidis CA

更新日期：2017-12-01 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：:The aims of this study were to suggest the rate of primary progressive (PP) subtype of pediatric onset multiple sclerosis (MS) in Isfahan, Iran, and describe its clinical and paraclinical features. The data of patients were retrieved from Isfahan MS Society (IMSS) database from April 2003 to August 2011. Among 3,843 M...

journal_title：Neuropediatrics

authors： Etemadifar M,Afzali P,Tabrizi N,Hosseini SA

更新日期：2013-06-01 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：: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

authors： Guideri F,Acampa M,Hayek G,Zappella M,Di Perri T

更新日期：1999-06-01 00:00:00

abstract：:We report on 12 children with neuronal ceroid lipofuscinosis (NCL) diagnosed between 1974-1995 in the West of Scotland. Diagnosis was made on the basis of clinical, electrophysiological, radiological and pathological examination including electron microscopy (EM) in all cases. Incidence was calculated on the basis of ...

journal_title：Neuropediatrics

authors： Crow YJ,Tolmie JL,Howatson AG,Patrick WJ,Stephenson JB

更新日期：1997-06-01 00:00:00

abstract：:Twenty-four hour continuous pneumocardiogram recordings were obtained on 250 healthy, normal infants in a hospital nursery on the first to third days of life. 73% of the infants showed no apneic episodes greater than 15 seconds in duration. 5% demonstrated longest apneic episodes greater than 20 seconds in duration wi...

journal_title：Neuropediatrics

authors： Stein IM,Fallon M,Merisalo RL,Kennedy JL Jr

更新日期：1983-05-01 00:00:00

abstract：:Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the fol...

journal_title：Neuropediatrics

authors： Kevelam SH,Steenweg ME,Srivastava S,Helman G,Naidu S,Schiffmann R,Blaser S,Vanderver A,Wolf NI,van der Knaap MS

更新日期：2016-12-01 00:00:00

abstract：:The response of kidney and bone to parathyroid extract (PTE) was investigated in 8 epileptic children on long-term treatment with primidone in combination with phenytoin or other anticonvulsant drugs. The results indicate a dissociation between normal and cyclic AMP excretion and disturbed renal handling of phosphate ...

journal_title：Neuropediatrics

authors： Kruse K,Kracht U,Göpfert G

更新日期：1982-02-01 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：: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：: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：: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：:A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A...

journal_title：Neuropediatrics

authors： Arts WF,Hofstee Y,Drejer GF,Beverstock GC,Oosterwijk JC

更新日期：1995-02-01 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：: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