Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death.

abstract：:Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous...

journal_title：Neuropediatrics

authors： Riikonen R,Santavuori P

更新日期：1994-10-01 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：:Two children with acute transverse myelopathy following adenovirus and Borrelia Burgdorferi infections are presented. The diagnosis stems from the clinical presentation, the determination of specific antibodies in serum and the favorable response to penicillin treatment in the case of neuroborreliosis. Both children m...

journal_title：Neuropediatrics

authors： Linssen WH,Gabreëls FJ,Wevers RA

更新日期：1991-05-01 00:00:00

abstract：:A previously healthy one-year-old boy, the youngest child of unrelated parents, presented with a four-week history of episodes of myoclonus triggered only by tactile stimulation to his head. There had been no loss of developmental skills. The electroencephalogram (EEG) revealed generalised polyspike wave activity both...

journal_title：Neuropediatrics

authors： Kurian MA,King MD

更新日期：2003-06-01 00:00:00

abstract：:18F fluorodeoxyglucose (18FDG) and positron tomography (PT) were used in 20 full term babies with seizures or hypotonia to describe regional cerebral glucose metabolism. Among babies with seizures, birth asphyxia was the most common cause. PT was performed at age 6-17 days. One hour before PT, 18FDG (50-100 microCi/kg...

journal_title：Neuropediatrics

authors： Thorp PS,Levin SD,Garnett ES,Nahmias C,Firnau G,Toi A,Upton AR,Nobbs PT,Sinclair JC

更新日期：1988-08-01 00:00:00

abstract：AIM: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenolo...

journal_title：Neuropediatrics

authors： Kaczyńska J,Janik P

更新日期：2021-01-14 00:00:00

abstract：:Developmental language disorder (DLD) is diagnosed when there is a failure of normal language development in a child with normal nonverbal intelligence. The discussion about additional or causal deficits is controversial. In this study a computer-based motor performance series with a tapping, aiming and pegboard movem...

journal_title：Neuropediatrics

authors： Preis S,Schittler P,Lenard HG

更新日期：1997-12-01 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：: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：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：: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 14-year-old boy presented with a febrile illness associated with arthritis. Shortly later he developed mononeuritis multiplex. After certain typical skin lesions had developed after two months, the diagnosis cutaneous polyarteritis could be made. The diagnostic features of this benign disease, which may involve peri...

journal_title：Neuropediatrics

authors： Draaisma JM,Fiselier TJ,Mullaart RA

更新日期：1992-02-01 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：: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：: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：: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：:Computed tomography (CT) of the brain has been used to evaluate potential etiologies of hemiplegic cerebral palsy in a population-based group of 28 children born preterm, in whom an obvious postnatal cause of hemiplegia could be excluded. The CT findings were classified according to a system so constructed to reflect ...

journal_title：Neuropediatrics

authors： Wiklund LM,Uvebrant P,Flodmark O

更新日期：1991-02-01 00:00:00

abstract：:Immunohistochemical study of catecholamine synthesizing enzymes tyrosine hydroxylase (TH) and phenylethanolamine-N-methyl transferase (PNMT) was performed in lower brain stem of 5 controls and 9 sudden infant death "syndrome" (SIDS) cases. No difference was noticed in TH immunoreactive neuronal groups. With anti-PNMT ...

journal_title：Neuropediatrics

authors： Kopp N,Chigr F,Denoroy L,Gilly R,Jordan D

更新日期：1993-02-01 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：OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...

journal_title：Neuropediatrics

authors： Cayami FK,La Piana R,van Spaendonk RM,Nickel M,Bley A,Guerrero K,Tran LT,van der Knaap MS,Bernard G,Wolf NI

更新日期：2015-06-01 00:00:00

abstract：:A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudop...

journal_title：Neuropediatrics

authors： Colamaria V,Marradi P,Boner A,Pajno-Ferrara F,Procacci C,Cesaro G,La Selva L,Capovilla G,Fontana E,Dalla Bernardina B

更新日期：1989-11-01 00:00:00

abstract：:Juvenile myasthenia gravis (JMG) is an autoimmune disorder of neuromuscular transmission caused by production of antibodies against components of the postsynaptic membrane of the neuromuscular junction. Ethnicity has influence on incidence, clinical presentation, and the course of the disease. The patients present wit...

journal_title：Neuropediatrics

authors： Della Marina A,Trippe H,Lutz S,Schara U

更新日期：2014-04-01 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：: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：: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：: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：: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：:We studied the effect of ACTH on plastic synapses in the hippocampal gyrus of the developing mouse brain. Examination of ethanolic phosphotungustic acid stained synaptic junctions revealed no obvious differences between the ACTH-treated brains and controls qualitatively and quantitatively. Therefore, ACTH may not adve...

journal_title：Neuropediatrics

authors： Tateno A,Koya N,Aoki T,Nasu F

更新日期：1987-11-01 00:00:00

abstract：:134 preterm infants were investigated in their ability to coordinate sucking and breathing. Of those infants who did not coordinate, 79% showed immature cardiorespiratory control whereas of those who suck and breathe simultaneously only 12% had poor cardiorespiratory control. This finding suggests that in infants with...

journal_title：Neuropediatrics

authors： Daniels H,Devlieger H,Minami T,Eggermont E,Casaer P

更新日期：1990-02-01 00:00:00

abstract：:We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper...

journal_title：Neuropediatrics

authors： Kaiboriboon K,Hayat GR

更新日期：2001-12-01 00:00:00