Positive rolandic sharp waves in preterm infants with periventricular leukomalacia: their relation to background electroencephalographic abnormalities.

abstract：BACKGROUND:Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined. METHODS:We identified a series of patients with a phenotype of nonsyndromic spastic paraplegi...

journal_title：Neuropediatrics

authors： Crow YJ,Zaki MS,Abdel-Hamid MS,Abdel-Salam G,Boespflug-Tanguy O,Cordeiro NJ,Gleeson JG,Gowrinathan NR,Laugel V,Renaldo F,Rodriguez D,Livingston JH,Rice GI

更新日期：2014-12-01 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

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：: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：: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：:A 19-month-old boy presented with acute-onset cerebellar ataxia following immunisation. Ataxia was prolonged with a fluctuating course over a period of two years. Opsoclonus was never observed. Extensive diagnostic studies were negative during this time. Finally, a neuroblastoma was discovered. Ataxia disappeared comp...

journal_title：Neuropediatrics

authors： Wolff M,Schöning M,Niemann G,Krägeloh-Mann I

更新日期：2001-04-01 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：:B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the ...

journal_title：Neuropediatrics

authors： Breu M,Glatter S,Höftberger R,Freilinger M,Kircher K,Kasprian G,Seidl R,Kornek B

更新日期：2019-06-01 00:00:00

abstract：:Rett syndrome is a neurological disorder associated with cortical atrophy, stereotyped hand movements, dementia, and extrapyramidal dysfunction. Endogenous levels of dopamine and its metabolites are decreased throughout the neocortex and basal ganglia and the number of dopamine type 2 receptors are decreased in the pu...

journal_title：Neuropediatrics

authors： Wenk GL

更新日期：1995-04-01 00:00:00

abstract：:We report a nine-year-old boy with the features of Leigh syndrome (LS) and a severe cytochrome-c oxidase (COX) deficiency with a single thymidine insertion at nucleotide position 5537 (T 5537i) in the tRNA Trp gene of mitochondrial DNA. During infancy the boy was irritable and hypotonus was noticed. Early motor develo...

journal_title：Neuropediatrics

authors： Tulinius M,Moslemi AR,Darin N,Westerberg B,Wiklund LM,Holme E,Oldfors A

更新日期：2003-04-01 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：OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...

journal_title：Neuropediatrics

authors： Park ES,Rha DW,Lee JD,Yoo JK,Chang WH

更新日期：2009-12-01 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：:Two patients with acute encephalopathy with bilateral striatal necrosis are presented and the literature on the subject is reviewed. The disease is characterized by abrupt onset following a systemic infectious illness, with disturbance of consciousness, absence of speech, dystonic movements of the limbs, general stiff...

journal_title：Neuropediatrics

authors： Rosemberg S,Amaral LC,Kliemann SE,Arita FN

更新日期：1992-12-01 00:00:00

abstract：:Brainstem auditory evoked potentials (BAEP) were studied in 93 newborns (49 preterm and 44 fullterm) admitted to the neonatal intensive care unit. One group of 42 infants (28-42 wk CA) were considered at low risk for perinatal complications and served to establish the normal ranges of the BAEP parameters (wave I peak ...

journal_title：Neuropediatrics

authors： Streletz LJ,Graziani LJ,Branca PA,Desai HJ,Travis SF,Mikaelian DO

更新日期：1986-05-01 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：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：:The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL a...

journal_title：Neuropediatrics

authors： Pullarkat RK,Morris GN

更新日期：1997-02-01 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：:Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, sever...

journal_title：Neuropediatrics

authors： Kyllerman M,Blomstrand S,Månsson JE,Conradi NG,Hindmarsh T

更新日期：1990-11-01 00:00:00

abstract：:In order to determine the relationship between visual functions and neonatal cerebral ultrasound, neurological examinations and cognitive development, a prospective longitudinal study was conducted in 69 high-risk very-low-birthweight children. Visual development was studied at 1 and 2.6 years of corrected age by asse...

journal_title：Neuropediatrics

authors： Weisglas-Kuperus N,Heersema DJ,Baerts W,Fetter WP,Smrkovsky M,van Hof-van Duin J,Sauer PJ

更新日期：1993-06-01 00:00:00

abstract：:The aim of this study was to evaluate the incidence of functional and neuroradiological abnormalities of the corpus callosum in a group of 21 prematurely born children (GA < 34 weeks) who were found to be "clumsy" on the Movement Assessment Battery for Children at 6 years of age. All children underwent functional and ...

journal_title：Neuropediatrics

authors： Mercuri E,Jongmans M,Henderson S,Pennock J,Chung YL,de Vries L,Dubowitz L

更新日期：1996-12-01 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：:Seizures are the most common neurological emergency in the neonates, and this age group has the highest incidence of seizures compared with any other period of life. The author provides a narrative review of recent advances in the genetics of neonatal epilepsies, new neonatal seizure classification system, diagnostics...

journal_title：Neuropediatrics

authors： Samanta D

更新日期：2020-12-08 00:00:00

abstract：:A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mor...

journal_title：Neuropediatrics

authors： Novotny EJ Jr

更新日期：1988-11-01 00:00:00

abstract：:The definition and the clinical picture of arthrogryposis multiplex congenita (AMC) are discussed and the associated anomalies, deformities and syndromes are listed. It is stressed that isolated congenital contractures in (progressive) neuromuscular disorders may be manifestations of AMC, dependent on the moment of th...

journal_title：Neuropediatrics

authors： Hageman G,Willemse J

更新日期：1983-02-01 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：:A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed vari...

journal_title：Neuropediatrics

authors： Shapira YA,Yarom R,Blank A

更新日期：1981-05-01 00:00:00

abstract：:Two boys developed rhythmic involuntary movements in the extremities on one side of the body after febrile illness. They also showed behavioral disturbances. In both patients, serum antistreptolysin-O and antistreptokinase titers were elevated in acute illness and decreased a few months later. One patient showed tremo...

journal_title：Neuropediatrics

authors： Maegaki Y,Akaboshi S,Inagaki M,Takeshita K

更新日期：2000-04-01 00:00:00

abstract：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent...

journal_title：Neuropediatrics

authors： Gücüyener K,Ozgül K,Paternotte C,Erdem H,Prud'homme JF,Ozgüç M,Topaloğlu H

更新日期：2001-06-01 00:00:00