Creatine Defects and Central Nervous System.

abstract：:A 5-year-old was admitted after an episode of loss of consciousness and an episode of convulsive activity. Information that aids in differentiating seizures and syncope is discussed. ...

journal_title：Seminars in pediatric neurology

authors： McGregor A

更新日期：2008-12-01 00:00:00

abstract：:The discipline of childhood movement disorders is an exciting new area of specialization within the field of pediatric neurology. Establishing a formal educational system is an ongoing challenge that should include the standardization of movement definitions, the development of a formal classification system for exist...

journal_title：Seminars in pediatric neurology

authors： Singer HS

更新日期：2011-06-01 00:00:00

abstract：:Cytomegalovirus (CMV) is the most common congenital virus passed from mother to fetus in the United States, and the most common acquired cause of sensorineural hearing loss. Neuroimaging in patients with symptomatic congenital CMV demonstrates abnormalities frequently, but many providers are unaware of the extent of t...

journal_title：Seminars in pediatric neurology

authors： Moresco BL,Svoboda MD,Ng YT

更新日期：2018-07-01 00:00:00

abstract：:The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by volun...

journal_title：Seminars in pediatric neurology

authors： Lotze T,Jankovic J

更新日期：2003-03-01 00:00:00

abstract：:Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, ...

journal_title：Seminars in pediatric neurology

authors： Panteghini C,Zorzi G,Venco P,Dusi S,Reale C,Brunetti D,Chiapparini L,Zibordi F,Siegel B,Garavaglia B,Simonati A,Bertini E,Nardocci N,Tiranti V

更新日期：2012-06-01 00:00:00

abstract：:An acute flaccid paraparesis or ascending quadriparesis in an infant or child constitutes a very important pediatric neurology emergency. The Guillain-Barré syndrome (GBS) is the most frequent cause. This is primarily an autoimmune, post-infectious, demyelinating, peripheral nervous system process. A small percentage ...

journal_title：Seminars in pediatric neurology

authors： Jones HR Jr

更新日期：2000-06-01 00:00:00

abstract：:Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of these epileptic syndromes are now better defined. The various ence...

journal_title：Seminars in pediatric neurology

authors： Shbarou R,Mikati MA

更新日期：2016-05-01 00:00:00

abstract：:The cerebral cortex is the area of the brain where higher-order cognitive processing occurs. The 2 hemispheres of the cerebral cortex communicate through one of the largest fiber tracts in the brain, the corpus callosum. Malformation of the corpus callosum in human beings occurs in 1 in 4000 live births, and those aff...

journal_title：Seminars in pediatric neurology

authors： Donahoo AL,Richards LJ

更新日期：2009-09-01 00:00:00

abstract：:Global developmental delay (GDD) and intellectual disability (ID) occur in up to 3% of the general population and are even more commonly encountered in the setting of the pediatric neurology clinic. New advances in technology and in the understanding of genetic disorders have led to changes in the diagnostic approach ...

journal_title：Seminars in pediatric neurology

authors： Flore LA,Milunsky JM

更新日期：2012-12-01 00:00:00

abstract：:Infections of the central nervous system are a significant cause of neurologic dysfunction in resource-limited countries, especially in Africa. The prevalence is not known and is most likely underestimated because of the lack of access to accurate diagnostic screens. For children, the legacy of subsequent neurodisabil...

journal_title：Seminars in pediatric neurology

authors： Mallewa M,Wilmshurst JM

更新日期：2014-03-01 00:00:00

abstract：:An estimated 10% to 40% of children with epilepsy have treatment-resistant epilepsy. Persistent seizures have negative psychosocial, behavioral, cognitive, and financial consequences and are associated with an increased mortality rate. Accurate syndromic and etiologic diagnoses are of vital importance because they may...

journal_title：Seminars in pediatric neurology

authors： Skjei KL,Dlugos DJ

更新日期：2011-09-01 00:00:00

abstract：:Children with neurologic conditions benefit from international conventions, and national treaties, policies and regulations that safeguard their human rights. These regulations also exist to serve as guidance in the creation of comprehensive systems of care, inclusive environments, accessible societies and communities...

journal_title：Seminars in pediatric neurology

authors： Shikako-Thomas K,Shevell M

更新日期：2018-10-01 00:00:00

abstract：:In recent years, there has been increasing recognition of the impact of childhood stroke and interest in the role of drugs in the acute, chronic, and prophylactic management of this condition. Most treatment strategies are based on studies in adults with stroke, and the relative infrequency of stroke and the heterogen...

journal_title：Seminars in pediatric neurology

authors： Amlie-Lefond C,Gill JC

更新日期：2010-12-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures...

journal_title：Seminars in pediatric neurology

authors： Tonsgard JH

更新日期：2006-03-01 00:00:00

abstract：:This article contains a discussion and detailed pictorial account of diagnostic and neurosurgical therapeutic procedures used to help pediatric patients who have medically intractable epilepsy. The operations discussed are placement of sphenoidal electrodes, strips and grids, temporal and extratemporal resections, cor...

journal_title：Seminars in pediatric neurology

authors： Iskandar BJ,Ramirez LF

更新日期：2000-09-01 00:00:00

abstract：:The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in ...

journal_title：Seminars in pediatric neurology

authors： Macmillan C

更新日期：1998-03-01 00:00:00

abstract：:Routine serum antiepileptic (AED) drug levels and laboratory monitoring for drug toxicity have crept into clinical practice. The value of these routines is uncertain. Serum drug levels do not clearly improve seizure control, predict adverse effects, or influence compliance. Routine laboratory testing appears neither s...

journal_title：Seminars in pediatric neurology

authors： Dooley JM

更新日期：1994-12-01 00:00:00

abstract：:An 11-year-old girl presented with a syndrome of inappropriate antidiuretic hormone secretion, which was transitory and, initially, of obscure origin. Subsequently, the patient's hypothalamic disorder emerged as a component of a steroid-responsive relapsing encephalomyelitis with cerebral pathology restricted to the b...

journal_title：Seminars in pediatric neurology

authors： Breningstall GN

更新日期：1999-09-01 00:00:00

abstract：:Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features...

journal_title：Seminars in pediatric neurology

authors： Hay BN

更新日期：2007-09-01 00:00:00

abstract：:Cerebral palsy (CP) registers appear to be appropriate tools for answering questions regarding the prevalence and characteristics of this common childhood disability. Registers are population databases issuing from multiple sources, relying on a clear definition and inclusion and exclusion criteria of CP, and requirin...

journal_title：Seminars in pediatric neurology

authors： Cans C,Surman G,McManus V,Coghlan D,Hensey O,Johnson A

更新日期：2004-03-01 00:00:00

abstract：:Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also...

journal_title：Seminars in pediatric neurology

authors： Victorio MC,Khoury CK

更新日期：2016-02-01 00:00:00

abstract：:Pediatric movement disorders may present with psychiatric symptoms at many points during the course of the disease. For the relatively common pediatric movement disorder, Tourette syndrome, psychiatric comorbidities are well-described and treatment is well-studied. Managing these comorbidities may be more effective th...

journal_title：Seminars in pediatric neurology

authors： Walsh KH,Soe K,Sarawgi S

更新日期：2018-04-01 00:00:00

abstract：:Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associat...

journal_title：Seminars in pediatric neurology

authors： Mostafavi M,Gaitanis J

更新日期：2020-10-01 00:00:00

abstract：:A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and ...

journal_title：Seminars in pediatric neurology

authors： Radke J,Dreesmann M,Radke M,von Moers A,Abicht A,Stenzel W,Goebel HH

更新日期：2018-07-01 00:00:00

abstract：:In this article, I consider in what sense bioethics is philosophical. Philosophy includes both analysis and synthesis. Analysis focuses on central concepts in a domain, for example, informed consent, death, medical futility, and health. It is argued that analysis should avoid oversimplification. The synthesis or synop...

journal_title：Seminars in pediatric neurology

authors： Horn P

更新日期：2015-09-01 00:00:00

abstract：:The incidence and sex distribution of spinal cord injury (SCI) changes with age. Motor vehicle accidents, bicycle accidents, sports accidents, and violence are major causes in the pediatric population. Pulmonary complications may be severe and life-threatening in the acute phase. Chronically, the degree of ventilatory...

journal_title：Seminars in pediatric neurology

authors： Zidek K,Srinivasan R

更新日期：2003-06-01 00:00:00

abstract：:The nature of sleep-related breathing problems varies with age. Ventilatory function may be compromised at the level of the brainstem, the autonomic nerves, or the upper airway musculature. These disorders are state-dependent, being impacted by both rapid eye movement and non-rapid eye movement sleep, and also by the ...

journal_title：Seminars in pediatric neurology

authors： Kotagal S

更新日期：2003-12-01 00:00:00

abstract：:Scoliosis, common in preadolescent females is a finding which warrants investigation in any other age group or if the clinical or neuroimaging features are atypical even in the preadolescent female. The cause of scoliosis are numerous but include several important conditions some of which are treatable and some of whi...

journal_title：Seminars in pediatric neurology

authors： Barnes PD

更新日期：1996-09-01 00:00:00

abstract：:Ethical issues in the critical care unit frequently arise in children with neurological problems. These ethical issues frequently challenge our medical management of such cases and can be quite problematic. This article reviews key ethical issues that may arise including informed consent, futility, justice/rationing, ...

journal_title：Seminars in pediatric neurology

authors： Shevell M

更新日期：2004-06-01 00:00:00

abstract：:Intermediate filament (IF) proteins are cytoplasmic and nuclear cytoskeletal proteins. Of the ~70 IF proteins, nearly 12 are found in the nervous system, where their expression is largely cell-type specific. Astrocytes express glial fibrillary acidic protein (GFAP), whereas different neuron types contain neurofilament...

journal_title：Seminars in pediatric neurology

authors： Quick Q,Paul M,Skalli O

更新日期：2015-03-01 00:00:00