Mitochondrial encephalopathies.

abstract：:Training in child neurology requires formal training in other aspects of pediatrics. This pediatrics training affords the ability to obtain a developmentally appropriate history and physical examination at all stages of childhood and adolescence and to provide anticipatory guidance to children and families of all deve...

journal_title：Seminars in pediatric neurology

authors： Schor NF

更新日期：2011-06-01 00:00:00

abstract：:Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible...

journal_title：Seminars in pediatric neurology

authors： Nance MA

更新日期：2003-09-01 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：: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：: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：: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 organization of language-relevant brain systems was examined in normally developing and language-impaired children. Atypical patterns of brain activity were observed in subsets of children with specific language impairment (SLI) for both sensory (auditory and visual) and language processing. However, it was not th...

journal_title：Seminars in pediatric neurology

authors： Mills DL,Neville HJ

更新日期：1997-06-01 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：:Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an earl...

journal_title：Seminars in pediatric neurology

authors： Fons C,Campistol J

更新日期：2016-11-01 00:00:00

abstract：:Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, whic...

journal_title：Seminars in pediatric neurology

authors： Namerow LB,Kutner EC,Wakefield EC,Rzepski BR,Sahl RA

更新日期：2016-08-01 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：:Seizures are a common complication of pediatric brain tumors and their treatment. This article reviews the epidemiology, evaluation, and treatment of seizures in children with brain tumors. Seizures in known brain tumor patients may signify tumor progression or recurrence, or treatment-related brain damage, as well as...

journal_title：Seminars in pediatric neurology

authors： Wells EM,Gaillard WD,Packer RJ

更新日期：2012-03-01 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：: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：: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：: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：:Migraine is a commonly occurring headache syndrome in children and adolescents. Half of all individuals destined to have migraine begin their attacks before age 20 years. It is characterized by paroxysmal headache, nausea, vomiting, and desire to sleep. On occasion, dramatic neurological symptoms and signs accompany t...

journal_title：Seminars in pediatric neurology

authors： Lewis DW

更新日期：1995-06-01 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：:Epilepsy in children is mostly diagnosed and treated in an ambulatory office setting. This article reviews the literature and offers opinions about the best practice from the time of diagnosis through to remission and beyond. The diagnosis and assignment of an epilepsy syndrome may be difficult, and even experts disag...

journal_title：Seminars in pediatric neurology

authors： Camfield P,Camfield C

更新日期：2006-12-01 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：:Migraine is the most frequent type of headache in children. In the 1980s, scientists first hypothesized a connection between migraine and mitochondrial (mt) disorders. More recent studies have suggested that at least some subtypes of migraine may be related to a mt defect. Different types of evidence support a relatio...

journal_title：Seminars in pediatric neurology

authors： Yorns WR Jr,Hardison HH

更新日期：2013-09-01 00:00:00

abstract：:The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identi...

journal_title：Seminars in pediatric neurology

authors： Straub V,Bushby K

更新日期：2006-06-01 00:00:00

abstract：:Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic aci...

journal_title：Seminars in pediatric neurology

authors： Christensen CK,Walsh L

更新日期：2018-04-01 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：: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：:A brain, a neural structure located in the head, differs from a ganglion by the following characteristics: (1) a brain subserves the entire body, not just restricted segments; (2) it has functionally specialized parts; (3) it is bilobar; (4) commissures and neurons form the surface with axons in the central core; (5) ...

journal_title：Seminars in pediatric neurology

authors： Sarnat HB,Netsky MG

更新日期：2002-12-01 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：: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：: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：: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