Clinical manifestations and management of neurofibromatosis type 1.

abstract：:Pediatric brain tumors should be treated at multispecialty centers where the pediatric neurosurgeon constitutes a critical component to the team. Pediatric brain tumors are relatively rare, and diagnosis is often delayed because of the protean manifestations of these tumors clinically. The tumors can occur anywhere al...

journal_title：Seminars in pediatric neurology

authors： Mickle JP

更新日期：1997-12-01 00:00:00

abstract：:The craniovertebral junction is the most complex of the axial skeleton, residing between the skull and the upper cervical spine. Congenital, developmental, and acquired bony abnormalities result in compression and distortion of the neural structures, the vertebrobasilar vascular system, and the cerebrospinal fluid cha...

journal_title：Seminars in pediatric neurology

authors： Menezes AH

更新日期：1997-09-01 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：:The ultimate goal of treating status epilepticus is to provide the best opportunity for a good outcome. This review discusses the current literature on the outcome after status epilepticus in children, including the risk of recurrence, morbidity, and mortality. The outcome seems most dependent on etiology, with age an...

journal_title：Seminars in pediatric neurology

authors： Ostrowsky K,Arzimanoglou A

更新日期：2010-09-01 00:00:00

abstract：:Transition from pediatric to adult healthcare is a well-established challenge for individuals with neurodevelopmental disorders like cerebral palsy. With regard to ethics, some of the key aspects to explore include the following: if and how individuals feel respected during the transition process; if and how their val...

journal_title：Seminars in pediatric neurology

authors： Larivière-Bastien D,Bell E,Majnemer A,Shevell M,Racine E

更新日期：2013-06-01 00:00:00

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：: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：: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：:The protein surplus myopathies have emerged as a newly recognized subgroup of morphologically defined myopathies within the spectrum of congenital myopathies because of the accumulation of protein aggregates, some of them mutant proteins. Currently, nosologic, including molecular criteria include desmin-related myopat...

journal_title：Seminars in pediatric neurology

authors： Goebel HH,Borchert A

更新日期：2002-06-01 00:00:00

abstract：:The training of the child neurologist in the fundamentals of neurology is discussed. Although the fundamentals of neurology are clearly necessary for the practice of child neurology, the breadth of the background necessary for the practice of child neurology depend on the interest, enthusiasm, and goals of the residen...

journal_title：Seminars in pediatric neurology

authors： Bodensteiner J

更新日期：2011-06-01 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：: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：:Antiseizure medications and dietary therapies have associated effects on the endocrine system. We provided an overview of the relationship between epilepsy treatment and bone health in children with epilepsy. Additionally, we discussed the effects of epilepsy treatment on other endocrine systems including thyroid func...

journal_title：Seminars in pediatric neurology

authors： McNamara NA,Romanowski EMF,Olson DP,Shellhaas RA

更新日期：2017-11-01 00:00:00

abstract：:In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnorm...

journal_title：Seminars in pediatric neurology

authors： Jay V,Becker LE

更新日期：1995-09-01 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：: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：:The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient's epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be...

journal_title：Seminars in pediatric neurology

authors： Fine AL,Wong-Kisiel LC,Wirrell EC

更新日期：2018-07-01 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：: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：: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：: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：: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：: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：: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：:Intracranial pressure (ICP) and skull volume are intricately related. Craniosynostosis alters skull volume, and the many forms of craniosynostosis complicate the relationship to ICP even further. Patients with single-suture synostosis are less likely to experience elevated ICP than patients in whom multiple sutures, c...

journal_title：Seminars in pediatric neurology

authors： Bristol RE,Lekovic GP,Rekate HL

更新日期：2004-12-01 00:00:00

abstract：:Childhood stoke is increasingly recognized, but studies remain largely descriptive. Important differences from adult stroke include the following: (1) frequently delayed or missed diagnosis, (2) heterogenous and overlapping risk factors, and (3) developmental differences in the cerebrovascular, neurologic, and coagula...

journal_title：Seminars in pediatric neurology

authors： deVeber G,Roach ES,Riela AR,Wiznitzer M

更新日期：2000-12-01 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：: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：: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：: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