Proton magnetic resonance spectroscopy in a case of subacute sclerosing panencephalitis.

abstract：:Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The...

journal_title：Journal of child neurology

authors： DiMario FJ Jr

更新日期：2004-09-01 00:00:00

abstract：:Glucose transporter 1 facilitates glucose transport across the blood-brain barrier. By increasing histone acetylation at the SLC2A1 promotor, valproic acid could increase SLC2A1 gene expression. This study was designed to evaluate the effects of valproic acid on glucose transport in astrocyte cultures derived from SLC...

journal_title：Journal of child neurology

authors： Kim SK,Yang H,Pascual JM,De Vivo DC

更新日期：2013-01-01 00:00:00

abstract：:The goal of this study was to collect prospective longitudinal information on the development of an epidemiologically defined cohort of patients with Tourette syndrome. These data may improve prognostic understanding of the condition. This information will also be important for specification of an adult phenotype for ...

journal_title：Journal of child neurology

authors： Burd L,Kerbeshian PJ,Barth A,Klug MG,Avery PK,Benz B

更新日期：2001-06-01 00:00:00

abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

journal_title：Journal of child neurology

authors： McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

更新日期：2015-07-01 00:00:00

abstract：BACKGROUND:Moyamoya disease is a rare cerebrovascular disease characterized by progressive stenosis of the bilateral distal internal carotid arteries and their proximal branches. Both chorea and dystonia have been reported as the initial presentation of moyamoya disease. OBJECTIVE:The objective was to define the clini...

journal_title：Journal of child neurology

authors： Greene S,Bansal L,Coffman KA,Nardone R,Zuccoli G

更新日期：2016-04-01 00:00:00

abstract：:Brain abscesses are uncommon in neonates. Klebsiella pneumoniae is a very uncommon microbial agent to cause brain abscess. We report 2 infants with Klebsiella pneumoniae sepsis who developed brain abscesses. One infant was a premature neonate who required mechanical ventilation for respiratory distress syndrome and su...

journal_title：Journal of child neurology

authors： Sundaram V,Agrawal S,Chacham S,Mukhopadhyay K,Dutta S,Kumar P

更新日期：2010-03-01 00:00:00

abstract：:Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestation...

journal_title：Journal of child neurology

authors： Young H,Hyman S,North K

更新日期：2002-08-01 00:00:00

abstract：:We report 10 years' follow-up of the previously described family with a novel mutation of the KCNA1 gene. The family consisted of 3 affected boys (first seen at ages 3, 11, and 12) and their affected mother and asymptomatic father and sister. They clinically presented with diffuse myokymia, muscle cramps, and lower li...

journal_title：Journal of child neurology

authors： Moghimi N,Rosen JB,Jabbari B

更新日期：2013-11-01 00:00:00

abstract：:We report a case of a neonate with sectional narrowing of the spinal cord on the level of T12 to L2 and a deformed vertebral body on a different level, L4. In previously described cases of sectional spinal dysgenesis, the vertebral and spinal cord malformations are usually found on the same level. Our case may represe...

journal_title：Journal of child neurology

authors： Weber A,Maier RF,Felderhoff-Mueser U,Lehmann R,Stöver B,Obladen M

更新日期：2001-08-01 00:00:00

abstract：:Tics, patterned movements distinct from stereotypies, myoclonus, and other hyperkinetic movements, are quite common in children, particularly among those with developmental and psychiatric disorders. Thus, tics can indicate the presence of atypical neurodevelopment or broader difficulties with cognition or mood. Tics ...

journal_title：Journal of child neurology

authors： Gilbert D

更新日期：2006-08-01 00:00:00

abstract：:A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A,Srinivas M,Shukla B,Mathur SR

更新日期：2011-01-01 00:00:00

abstract：:Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvem...

journal_title：Journal of child neurology

authors： Taskin BD,Karalok ZS,Gurkas E,Aydin K,Aydogmus U,Ceylaner S,Karaer K,Yilmaz C,Pearl PL

更新日期：2016-06-01 00:00:00

abstract：:Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...

journal_title：Journal of child neurology

authors： Swoboda KJ,Kissel JT,Crawford TO,Bromberg MB,Acsadi G,D'Anjou G,Krosschell KJ,Reyna SP,Schroth MK,Scott CB,Simard LR

更新日期：2007-08-01 00:00:00

abstract：:Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

journal_title：Journal of child neurology

authors： Tsao CY,Mendell JR

更新日期：2006-02-01 00:00:00

abstract：:Primary spinal atypical teratoid/rhabdoid tumor is extremely rare. The authors present a case of atypical teratoid/rhabdoid tumor occurring in a 4-year-old girl. Magnetic resonance imaging The authors showed an intramedullary mass extending from the bulbomedullary junction to T1 with leptomeningeal dissemination. The ...

journal_title：Journal of child neurology

authors： Tinsa F,Jallouli M,Douira W,Boubaker A,Kchir N,Hassine DB,Boussetta K,Bousnina S

更新日期：2008-12-01 00:00:00

abstract：:Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both. Recent immunocytochemical s...

journal_title：Journal of child neurology

authors： Johnston MV,Mullaney B,Blue ME

更新日期：2003-10-01 00:00:00

abstract：:Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...

journal_title：Journal of child neurology

authors： Percy AK

更新日期：1988-01-01 00:00:00

abstract：:Urinary excretion of acetylcarnitine was measured by high-performance liquid chromatography in two experimental groups of valproate-treated rats. In the urine of mature rats weighing 180 to 200 g treated with valproate (500 mg/kg/day), acetylcarnitine levels were higher than those in controls on days 4 and 7, while L-...

journal_title：Journal of child neurology

authors： Murakami K,Sugimoto T,Nishida N,Woo M,Araki A,Kobayashi Y

更新日期：1992-10-01 00:00:00

abstract：INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...

journal_title：Journal of child neurology

authors： Haney CA,Charpentier A,Turner Z,Bessone SK,Doerrer SC,Kossoff EH

更新日期：2019-06-01 00:00:00

abstract：:Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was...

journal_title：Journal of child neurology

authors： Krajnc N,Župančič N,Oražem J

更新日期：2011-11-01 00:00:00

abstract：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...

journal_title：Journal of child neurology

authors： John B,Klemm E,Haverkamp F

更新日期：2000-12-01 00:00:00

abstract：:We assessed 10 youth football players (13.4 ± 0.7 y) immediately before and after their season to explore the effects of football participation on selected clinical measures of neurologic function. Postseason postural stability in a closed-eye condition was improved compared to preseason (P = .017). Neurocognitive tes...

journal_title：Journal of child neurology

authors： Munce TA,Dorman JC,Odney TO,Thompson PA,Valentine VD,Bergeron MF

更新日期：2014-12-01 00:00:00

abstract：:Although long-term follow-up data are available for cases with acute disseminated encephalomyelitis, the findings range widely because of the lack of consistent definitions. Using the International Pediatric Multiple Sclerosis Study Group definitions strictly, we determined the long-term prognosis of children with acu...

journal_title：Journal of child neurology

authors： Mar S,Lenox J,Benzinger T,Brown S,Noetzel M

更新日期：2010-06-01 00:00:00

abstract：:We studied eight patients with rigid spine syndrome aged 8 to 20 years at the time of first examination. Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but a...

journal_title：Journal of child neurology

authors： Merlini L,Granata C,Ballestrazzi A,Marini ML

更新日期：1989-10-01 00:00:00

abstract：:We report the clinical course of a 4-year-old girl with chronic cerebellitis (onset 2 days after diphtheria-pertussis-tetanus vaccination at 1 year and 7 months old) associated with anti-glutamate receptor delta 2 antibody, who improved dramatically with steroid therapy (methylprednisolone pulse therapy plus oral pred...

journal_title：Journal of child neurology

authors： Kubota M,Takahashi Y

更新日期：2008-02-01 00:00:00

abstract：:The aim of this study is to investigate the efficacy and tolerability of topiramate in a large number of children with West syndrome. The authors performed a retrospective, questionnaire-based data collection in specialized epilepsy units in Germany. Patients with West syndrome and hypsarrhythmia could be included if ...

journal_title：Journal of child neurology

authors： Korinthenberg R,Schreiner A

更新日期：2007-03-01 00:00:00

abstract：:Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who...

journal_title：Journal of child neurology

authors： Joseph K,Avallone J,Difazio M

更新日期：2005-02-01 00:00:00

abstract：OBJECTIVE:We performed a retrospective chart review of patients with trisomy 21 and infantile spasms in our university-based pediatric epilepsy center between 2002 and 2016 in order to describe the clinical characteristics of children with these diagnoses as well as to evaluate their response to first-line treatments. ...

journal_title：Journal of child neurology

authors： Armstrong D,Said RR

更新日期：2019-10-01 00:00:00

abstract：:An 8-year-old girl and her 4-year-old sister presented with psychomotor retardation during the 1st year of life. This was followed by spasticity, seizures, and in the older patient, progressive loss of faculties and death. Computed tomographic and magnetic resonance imaging scans demonstrated progressive cerebral atro...

journal_title：Journal of child neurology

authors： de León GA,Crawford SE,Stack C,Darling CF,Johnson GS

更新日期：1996-01-01 00:00:00

abstract：:Cortical dysplasia is now recognized as one of the major etiologies causing intractable epilepsy in childhood. Dysplastic cortex displays cortical dyslamination, which is often associated with dysmorphic large neurons and less frequently with balloon cells. The dysmorphic large neurons are commonly located in the subc...

journal_title：Journal of child neurology

authors： Yamanouchi H

更新日期：2005-04-01 00:00:00