Actin-related myopathy without any missense mutation in the ACTA1 gene.

abstract：:In vivo magnetic resonance techniques such as magnetic resonance imaging (MRI) and magnetic resonance spectroscopy have been some of the most useful tools for evaluation of neurologic diseases. In subacute sclerosing panencephalitis, magnetic resonance spectroscopy can be an additional tool for evaluation of disease p...

journal_title：Journal of child neurology

authors： Kato Z,Asano T,Kondo N

更新日期：2006-02-01 00:00:00

abstract：:Patients with refractory seizures, including those with Sturge-Weber syndrome, undergo functional studies in preparation for surgery. Perfusion studies in Sturge-Weber syndrome by single photon emission computed tomography and positron emission tomography generally demonstrate hypoperfusion in the diseased tissue. We ...

journal_title：Journal of child neurology

authors： Oguz KK,Senturk S,Ozturk A,Anlar B,Topcu M,Cila A

更新日期：2007-05-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...

journal_title：Journal of child neurology

authors： Mintz M,Pina-Garza JE,Wolf SM,McGoldrick PE,Józwiak S,Grinnell T,Cantu D,Costa R,Moreira J,Li Y,Blum D

更新日期：2020-03-01 00:00:00

abstract：:Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...

journal_title：Journal of child neurology

authors： Dardiotis E,Kountra P,Kapsalaki E,Protogerou G,Markopoulou K

更新日期：2009-08-01 00:00:00

abstract：:Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...

journal_title：Journal of child neurology

authors： Ostrovskaya MA,Rojas M,Kupferman JC,Lande MB,Paterno K,Brosgol Y,Pavlakis SG

更新日期：2015-04-01 00:00:00

abstract：:Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...

journal_title：Journal of child neurology

authors： Raafat N,El Safy U,Khater N,Hassan T,Hassan B,Siam A,Youssef A,El Shabrawy A

更新日期：2015-03-01 00:00:00

abstract：:Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review summarizes the current published literature on acute transverse myelitis...

journal_title：Journal of child neurology

authors： Wolf VL,Lupo PJ,Lotze TE

更新日期：2012-11-01 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：:The purpose of this survey and record review was to characterize emergency department management of unprovoked seizures and status epilepticus in children in Illinois. The survey was sent to 119 participating emergency departments in the Emergency Medical Services for Children program; responses were received from 103...

journal_title：Journal of child neurology

authors： Taylor C,Piantino J,Hageman J,Lyons E,Janies K,Leonard D,Kelley K,Fuchs S

更新日期：2015-10-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 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：:Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magne...

journal_title：Journal of child neurology

authors： Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac K

更新日期：2003-06-01 00:00:00

abstract：:Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop di...

journal_title：Journal of child neurology

authors： Bonkowsky JL,Wilkes J,Shyr DC

更新日期：2018-12-01 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：:A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...

journal_title：Journal of child neurology

authors： Arvidsson J,Nilsson HL,Sandstedt P,Steinwall G,Tonnby B,Flesch G

更新日期：1995-03-01 00:00:00

abstract：:A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed a mutation at codon 164 of the connexin 32 gene. Neuroradiological and neurophysiological follow-up is reported during acute and ...

journal_title：Journal of child neurology

authors： Fusco C,Frattini D,Pisani F,Spaggiari F,Ferlini A,Della Giustina E

更新日期：2010-06-01 00:00:00

abstract：:Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...

journal_title：Journal of child neurology

authors： Dabscheck G,Mackay M,Coleman L,Lo P

更新日期：2007-03-01 00:00:00

abstract：:Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipa...

journal_title：Journal of child neurology

authors： Bindu PS,Taly AB,Christopher R,BharatKumar PV,Panda S,Netravathi M,Ravishankar S,Mahadevan A,Yasha TC,Gayathri N

更新日期：2007-12-01 00:00:00

abstract：:Neurocysticercosis is a common parasitic infection of the central nervous system. Intraparenchymal giant cysticercosis has been described in literature, but this is a rare report of a thalamic giant cysticercosis in a young child where the diagnosis could be made on follow-up. A 1½-year-old male child presented with s...

journal_title：Journal of child neurology

authors： Mittal A,Sehgal R,Sureka B,Kumar A,Aggarwal KC

更新日期：2014-11-01 00:00:00

abstract：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 00:00:00

abstract：:Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...

journal_title：Journal of child neurology

authors： Ranger AM,Chaudhary N,Avery M,Lownie S

更新日期：2013-10-01 00:00:00

abstract：:After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsycho...

journal_title：Journal of child neurology

authors： Bernaudin F,Verlhac S,Fréard F,Roudot-Thoraval F,Benkerrou M,Thuret I,Mardini R,Vannier JP,Ploix E,Romero M,Cassé-Perrot C,Helly M,Gillard E,Sebag G,Kchouk H,Pracros JP,Finck B,Dacher JN,Ickowicz V,Raybaud C,Ponce

更新日期：2000-05-01 00:00:00

abstract：:We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by fun...

journal_title：Journal of child neurology

authors： Russman BS,Iannacone ST,Buncher CR,Samaha FJ,White M,Perkins B,Zimmerman L,Smith C,Burhans K,Barker L

更新日期：1992-10-01 00:00:00

abstract：:We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...

journal_title：Journal of child neurology

authors： Bale JF Jr,Caplin DA,Bruse JD,Folland D

更新日期：2009-12-01 00:00:00

abstract：:Children with autistic spectrum disorder are known to have histopathological abnormalities in the cerebellum. Diffusion tensor imaging has been utilized to study abnormalities in connectivity and microintegrity in brains of such children. A region of interest approach was adopted to study cerebellar outflow and inflow...

journal_title：Journal of child neurology

authors： Sivaswamy L,Kumar A,Rajan D,Behen M,Muzik O,Chugani D,Chugani H

更新日期：2010-10-01 00:00:00

abstract：:The aim was to explore the relationship of youth age and sex to depressive symptoms and illness attitudes in youth with epilepsy and juvenile rheumatic disease. Youth with epilepsy or juvenile rheumatic disease between the ages of 7 and 19 years completed measures of depressive symptoms and illness attitudes. A signif...

journal_title：Journal of child neurology

authors： Ryan JL,Ramsey RR,Fedele DA,Wagner JL,Smith G,Chaney JM

更新日期：2012-08-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the...

journal_title：Journal of child neurology

authors： Hudson LD

更新日期：2003-09-01 00:00:00

abstract：:Direct perfusion of specific regions of the central nervous system by convection-enhanced delivery is becoming more widely used for the delivery of compounds in the research and treatment of various neural disorders. In contrast to other currently available central nervous system delivery techniques, convection-enhanc...

journal_title：Journal of child neurology

authors： Song DK,Lonser RR

更新日期：2008-10-01 00:00:00

abstract：:The decision whether or not to recommend chronic antiepileptic drug treatment for a child with seizures requires a risk-benefit analysis tailored to each individual case. Because all of the available antiepileptic medications have some potential adverse effects, the analysis may weigh in favor of a decision not to tre...

journal_title：Journal of child neurology

authors： Wyllie E

更新日期：1994-10-01 00:00:00

abstract：:We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...

journal_title：Journal of child neurology

authors： Mazur-Melewska K,Breńska I,Jończyk-Potoczna K,Kemnitz P,Pieczonka-Ruszkowska I,Mania A,Służewski W,Figlerowicz M

更新日期：2016-05-01 00:00:00