Narcolepsy in children.

abstract：:Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a...

journal_title：Seminars in pediatric neurology

authors： Copeland S

更新日期：2008-09-01 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：:Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central...

journal_title：Seminars in pediatric neurology

authors： Benson LA,Olson H,Gorman MP

更新日期：2014-12-01 00:00:00

abstract：:This report describes language development from infancy through 8 years of life for a large sample of very low birth weight (VLBW) (high medical risk, n = 94; low medical risk, n = 132) and term (n = 134) children. Children of high and low medical risk status showed lower levels and slower rates of development compare...

journal_title：Seminars in pediatric neurology

authors： Landry SH,Smith KE,Swank PR

更新日期：2002-09-01 00:00:00

abstract：:Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into ge...

journal_title：Seminars in pediatric neurology

authors： Cardenas JF,Amato RS

更新日期：2010-03-01 00:00:00

abstract：:This neuropathologic case study illustrates the discovery of metachronous hemorrhagic infarcts insinuating round mass-like lesions by magnetic resonance imaging in the setting of childhood primary angiitis of the central nervous system (cPACNS) raising diagnostic awareness of this unusual presentation in a clinical an...

journal_title：Seminars in pediatric neurology

authors： Katsetos CD,Poletto E,Kasmire KE,Walleigh D,Kumar I,Pascasio JM,Legido A,Goldsmith DP

更新日期：2014-06-01 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：:Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a...

journal_title：Seminars in pediatric neurology

authors： Ruggieri M,Praticò AD

更新日期：2015-12-01 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：:Protein misfolding and aggregation are common to many disorders, including neurodegenerative diseases referred to as "conformational disorders," suggesting that alterations in the normal protein homeostasis might contribute to pathogenesis. Cells evolved 2 major components of the protein quality control system to deal...

journal_title：Seminars in pediatric neurology

authors： Outeiro TF,Tetzlaff J

更新日期：2007-03-01 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：:Infants with congenital infections are at high risk for developmental disabilities. Because of this increased-risk status, they require comprehensive, longitudinal follow-up that should begin in the neonatal period with sensory, developmental, and neuromotor assessments as well as neuroradiological imaging. Reassessme...

journal_title：Seminars in pediatric neurology

authors： Williamson WD

更新日期：1994-09-01 00:00:00

abstract：:Adults treated in infancy for conditions such as spina bifida and hydrocephalus are not cured of their conditions even after reaching adulthood. However, patients who have received coordinated care within a children's facility are unlikely to find the same type of coordinated care when they become adults. This article...

journal_title：Seminars in pediatric neurology

authors： Rekate HL

更新日期：2009-03-01 00:00:00

abstract：:Herpes simplex virus type 2 (HSV-2) is known to cause acute retinal necrosis (ARN). The availability of HSV-2-specific polymerase chain reaction tests for diagnostic analysis has greatly increased our ability to discriminate ARN caused by HSV-2 from ARN caused by either herpes simplex virus type 1 or varicella zoster ...

journal_title：Seminars in pediatric neurology

authors： Grose C

更新日期：2012-09-01 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：: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：:Numerous neurosurgical approaches are available for children presenting with hypothalamic hamartomas (HHs) associated with severe epilepsy. A concern regarding the impairment of short-term memory after resective surgery is promoting the exploration of less invasive alternatives like radiosurgery. Gamma knife radiosurg...

journal_title：Seminars in pediatric neurology

authors： Régis J,Scavarda D,Tamura M,Villeneuve N,Bartolomei F,Brue T,Morange I,Dafonseca D,Chauvel P

更新日期：2007-06-01 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：:Astrocytes have long been forgotten entities in our quest to understand brain function. Over the last few decades, there has been an exponential increase in our knowledge of central nervous system (CNS) function, and, consequently, astrocytes have emerged as key figures in CNS physiology and disease. Indeed, several p...

journal_title：Seminars in pediatric neurology

authors： Chaboub LS,Deneen B

更新日期：2013-12-01 00:00:00

abstract：:Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encode...

journal_title：Seminars in pediatric neurology

authors： Breningstall GN,Shoffner J,Patterson RJ

更新日期：2008-12-01 00:00:00

abstract：:Although no single neurological manifestation is specific of mitochondrial encephalopathies, several neurological syndromes are clearly suggestive of the diagnosis. Muscle biopsy for histochemicals, biochemical, and mitochondrial DNA studies is frequently necessary to establish diagnosis of mitochondrial encephalopath...

journal_title：Seminars in pediatric neurology

authors： Maertens P

更新日期：1996-12-01 00:00:00

abstract：:Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the "biomarker life-cycle" must be understood to avoid false-positive and false-negative results. Molecular...

journal_title：Seminars in pediatric neurology

authors： Bielekova B,Pranzatelli MR

更新日期：2017-08-01 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：: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：: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：: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：: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：:Advances in infant cardiac surgery have resulted in a dramatic decline in mortality rates; however, neurological morbidity remains an important concern. The effectiveness of a number of interventional strategies to prevent or minimize brain injury during open heart surgery are currently being investigated. This articl...

journal_title：Seminars in pediatric neurology

authors： du Plessis AJ,Johnston MV

更新日期：1999-03-01 00:00:00

abstract：:A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyam...

journal_title：Seminars in pediatric neurology

authors： Cardenas JF,Chapman K

更新日期：2010-03-01 00:00:00

abstract：:Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor co...

journal_title：Seminars in pediatric neurology

authors： Jarjour IT

更新日期：2013-03-01 00:00:00