Video and CD-ROM as a training tool for performing neurologic examinations of 1-year-old children in a multicenter epidemiologic study.

abstract：:The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...

journal_title：Journal of child neurology

authors： Gray EM,Tomlison KG,Kileny S,Leber SM

更新日期：2019-03-01 00:00:00

abstract：:High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing ...

journal_title：Journal of child neurology

authors： Wakamoto H,Nakamura Y,Ebihara T,Tokuda K,Ohmori H

更新日期：2009-12-01 00:00:00

abstract：:Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...

journal_title：Journal of child neurology

authors： Aydin K,Elmas S,Guzes EA

更新日期：2006-06-01 00:00:00

abstract：:Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disinteg...

journal_title：Journal of child neurology

authors： Rosman NP,Bergia BM

更新日期：2013-12-01 00:00:00

abstract：:Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a ...

journal_title：Journal of child neurology

authors： Falsaperla R,Romeo G,Di Giorgio A,Pavone P,Parano E,Connolly AM

更新日期：2001-12-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...

journal_title：Journal of child neurology

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 00:00:00

abstract：:This population-based cross-sectional study evaluates the clinical value of electroretinography and visual evoked potentials in childhood brain tumor survivors. A flash electroretinography and a checkerboard reversal pattern visual evoked potential (or alternatively a flash visual evoked potential) were done for 51 su...

journal_title：Journal of child neurology

authors： Pietilä S,Lenko HL,Oja S,Koivisto AM,Pietilä T,Mäkipernaa A

更新日期：2016-07-01 00:00:00

abstract：:An infant newly diagnosed with propionic acidemic coma was managed successfully with total parenteral nutrition (TPN) and continuous infusion of insulin. The urinary excretion of 3-hydroxypropionic acid was reduced to 3% of the admission value in 4 days, gradually decreasing to 1.5% in 16 days. The treatment did not p...

journal_title：Journal of child neurology

authors： Kalloghlian A,Gleispach H,Ozand PT

更新日期：1992-04-01 00:00:00

abstract：:Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Leshinsky-Silver E,Watemberg N,Lev D

更新日期：2004-05-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：:Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...

journal_title：Journal of child neurology

authors： Yavuz H,Kiresi D

更新日期：2013-05-01 00:00:00

abstract：:We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...

journal_title：Journal of child neurology

authors： Hahn JS,Lewis AJ

更新日期：2003-03-01 00:00:00

abstract：:Spongy degeneration of the central nervous system in infancy (Van Bogaert-Bertrand disease) is a disorder usually thought to occur in Ashkenazi Jewish infants. We report a case occurring in an Arab infant of consanguineous parents. ...

journal_title：Journal of child neurology

authors： Mahdi AH,Elidirssy AT,Wright EA

更新日期：1986-01-01 00:00:00

abstract：:A review of the selective posterior rhizotomy procedure for reduction of spasticity in cerebral palsy is presented. The history of the procedure, selection of patients, operative technique, and results are described. The neurophysiologic basis for spasticity is considered, as well as the role of spasticity in the comp...

journal_title：Journal of child neurology

authors： Peacock WJ,Staudt LA

更新日期：1990-07-01 00:00:00

abstract：:Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and menta...

journal_title：Journal of child neurology

authors： De Rinaldis M,Losito L,Gennaro L,Trabacca A

更新日期：2010-10-01 00:00:00

abstract：:The prognosis in infants with brain tumors has historically been very poor. This study reviews 16 infants under the age of 12 months with brain tumors who presented to our institution between 1988 and 1999. The aim was to describe the clinical presentation, diagnosis, and management of these patients and to establish ...

journal_title：Journal of child neurology

authors： Young HK,Johnston H

更新日期：2004-06-01 00:00:00

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...

journal_title：Journal of child neurology

authors： Patel N,Hejkal T,Katz A,Margalit E

更新日期：2007-04-01 00:00:00

abstract：:Abnormal zinc metabolism in a 6-year-old male patient with Landau-Kleffner syndrome (acquired aphasia and convulsive disorder) is the subject of our report. We describe a significant decrease of erythrocyte and plasma zinc levels in the patient as compared with normal. Red blood cell zinc content is normally 38.5 +/- ...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Statter M,Lerman P

更新日期：1987-01-01 00:00:00

abstract：:Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only ...

journal_title：Journal of child neurology

authors： Akman CI,Schubert R,Duran M,Loh J

更新日期：2002-02-01 00:00:00

abstract：:Genetic factors play an important role in childhood autism. This study is to determine the association of single-nucleotide polymorphisms in dopa decarboxylase (DDC) and dopamine receptor-1 (DRD1) genes with childhood autism, in a Chinese Han population. A total of 211 autistic children and 250 age- and gender-matched...

journal_title：Journal of child neurology

authors： Yu H,Liu J,Yang A,Yang G,Yang W,Lei H,Quan J,Zhang Z

更新日期：2016-04-01 00:00:00

abstract：:Acquired toxoplasmosis, although relatively common in children, is usually asymptomatic but can also be clinically manifested by a benign and self-limited infectious mononucleosis-like syndrome. Neurological complications are very rare in immunocompetent children. The authors report a 5-year-old boy who presented with...

journal_title：Journal of child neurology

authors： Galli-Tsinopoulou A,Kyrgios I,Giannopoulou EZ,Gourgoulia S,Maggana I,Katechaki E,Chatzidimitriou D,Evangeliou AE

更新日期：2010-12-01 00:00:00

abstract：:Two boys, aged 7 and 12 years, with nondominant (right) hemispheric acquired vascular lesions and left visual-field disturbances had right spatial constructional disabilities, contralateral to that which would be expected. These unusual disturbances may represent the previously unreported phenomena of ipsilateral negl...

journal_title：Journal of child neurology

authors： Lewis DW,Geller T

更新日期：1994-01-01 00:00:00

abstract：:A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...

journal_title：Journal of child neurology

authors： Akman CI,Sue CM,Shanske S,Tanji K,Bonilla E,Ojaimi J,Krishna S,Schubert R,DiMauro S

更新日期：2004-04-01 00:00:00

abstract：:We describe a fatal case of mumps virus-associated acute encephalopathy. In terms of the clinical course and cytokine as well as chemokine profiles, the pathogenesis in our case was different from that of mumps meningoencephalitis but was similar to that of influenza virus-associated acute encephalopathy. ...

journal_title：Journal of child neurology

authors： Watanabe M,Suyama K,Hashimoto K,Sato M,Ohara S,Abe Y,Kawasaki Y,Yamaguchi S,Saijo M,Hosoya M

更新日期：2013-02-01 00:00:00

abstract：:We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...

journal_title：Journal of child neurology

authors： Pitter JH,French JH,PeBenito R,Hotson GC

更新日期：1990-07-01 00:00:00

abstract：:Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosi...

journal_title：Journal of child neurology

authors： Ercan TE,Oztunc F,Celkan T,Bor M,Kizilkilic O,Vural M,Perk Y,Islak C,Tuysuz B

更新日期：2013-01-01 00:00:00

abstract：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic features, and movement di...

journal_title：Journal of child neurology

authors： Bindu PS,Shehanaz KE,Christopher R,Pal PK,Ravishankar S

更新日期：2007-07-01 00:00:00

abstract：:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinici...

journal_title：Journal of child neurology

authors： Thornton B,Cohen B,Copeland W,Maria BL

更新日期：2014-09-01 00:00:00