abstract：BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...

journal_title：Pediatric neurology

authors： Scalais E,Osterheld E,Weitzel C,De Meirleir L,Mataigne F,Martens G,Shaikh TH,Coughlin CR 2nd,Yu HC,Swanson M,Friederich MW,Scharer G,Helbling D,Wendt-Andrae J,Van Hove JLK

更新日期：2017-06-01 00:00:00

abstract：BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...

journal_title：Pediatric neurology

authors： Rossi M,El-Khechen D,Black MH,Farwell Hagman KD,Tang S,Powis Z

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:Children with perinatal arterial ischemic stroke (PAIS) are at risk for later neurocognitive and behavioral deficits, yet the clinical predictors of these outcomes are understudied. We examined the influence of clinical and infarct characteristics on attention and executive functioning in children following ...

journal_title：Pediatric neurology

authors： Bosenbark DD,Krivitzky L,Ichord R,Vossough A,Bhatia A,Jastrzab LE,Billinghurst L

更新日期：2017-04-01 00:00:00

abstract：:CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindne...

journal_title：Pediatric neurology

authors： Williams RE,Adams HR,Blohm M,Cohen-Pfeffer JL,de Los Reyes E,Denecke J,Drago K,Fairhurst C,Frazier M,Guelbert N,Kiss S,Kofler A,Lawson JA,Lehwald L,Leung MA,Mikhaylova S,Mink JW,Nickel M,Shediac R,Sims K,Specchio

更新日期：2017-04-01 00:00:00

abstract：PURPOSE:To provide consensus-based, suggested imaging protocols to facilitate the accurate and timely diagnosis of a neonate with symptoms concerning for stroke. METHODS:The Writing Group, an international collaboration of pediatric neurologists and neuroradiologists with expertise in perinatal and childhood stroke, p...

journal_title：Pediatric neurology

authors： Lee S,Mirsky DM,Beslow LA,Amlie-Lefond C,Danehy AR,Lehman L,Stence NV,Vossough A,Wintermark M,Rivkin MJ,International Paediatric Stroke Study Neuroimaging Consortium and the Paediatric Stroke Neuroimaging Consortium.

更新日期：2017-04-01 00:00:00

abstract：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory acquired demyelinating syndrome predominantly affecting the white matter of the central nervous system. METHODS:We describe a three-year-old boy whose clinical presentation was suspicious for ADEM but whose initial imaging abnor...

journal_title：Pediatric neurology

authors： Abu Libdeh A,Goodkin HP,Ramirez-Montealegre D,Brenton JN

更新日期：2017-03-01 00:00:00

abstract：BACKGROUND:Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced c...

journal_title：Pediatric neurology

authors： Han TH,Kim DY,Park DW,Moon JH

更新日期：2017-01-01 00:00:00

abstract：:The updated American Heart Association/American Stroke Association guidelines include recommendation for thrombectomy in certain adult stroke cases. The safety and efficacy of thrombectomy in children are unknown. An 8-year-old girl experienced acute stroke symptoms on two occasions while therapeutically anticoagulate...

journal_title：Pediatric neurology

authors： Buompadre MC,Andres K,Slater LA,Mohseni-Bod H,Guerguerian AM,Branson H,Laughlin S,Armstrong D,Moharir M,deVeber G,Humpl T,Honjo O,Keshavjee S,Ichord R,Pereira V,Dlamini N

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...

journal_title：Pediatric neurology

authors： Nelson GR,Bale JF,Kerr LM

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:High-risk infant follow-up programs provide early identification and referral for treatment of neurodevelopmental delays and impairments. In these programs, a standardized neurological examination is a critical component of evaluation for clinical and research purposes. METHODS:To address primary challenges...

journal_title：Pediatric neurology

authors： Maitre NL,Chorna O,Romeo DM,Guzzetta A

更新日期：2016-12-01 00:00:00

abstract：BACKGROUND:Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients. PATIENT DESCRIPTION:We describe a child w...

journal_title：Pediatric neurology

authors： Bugnitz CJ,Cripe LH,Lo WD,Flanigan KM

更新日期：2016-10-01 00:00:00

abstract：BACKGROUND:Neonatal neurocritical care is a growing and rapidly evolving medical subspecialty, with increasing numbers of dedicated multidisciplinary clinical, educational, and research programs established at academic institutions. The growth of these programs has provided trainees in neurology, neonatology, and pedia...

journal_title：Pediatric neurology

authors： Smyser CD,Tam EWY,Chang T,Soul JS,Miller SP,Glass HC

更新日期：2016-10-01 00:00:00

abstract：BACKGROUND:Neonatal cerebral infarction is a relatively common cause of neonatal seizures, with an incidence of at least 1:4000 live births and is associated with a high incidence of neurological sequelae. However, the pathophysiological mechanisms and predisposing factors responsible for neonatal infarction are not fu...

journal_title：Pediatric neurology

authors： Kanda K,Sato A,Abe D,Nishijima S,Ishigami T

更新日期：2016-09-01 00:00:00

abstract：BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were in...

journal_title：Pediatric neurology

authors： Wang QL,Guo S,Duan G,Ying Y,Huang P,Liu JY,Zhang X

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:Electrographic status epilepticus in slow sleep or continuous spike and waves during slow-wave sleep is an epileptic encephalopathy characterized by seizures, neurocognitive regression, and significant activation of epileptiform discharges during nonrapid eye movement sleep. There is no consensus on the diag...

journal_title：Pediatric neurology

authors： Carosella CM,Greiner HM,Byars AW,Arthur TM,Leach JL,Turner M,Holland KD,Mangano FT,Arya R

更新日期：2016-07-01 00:00:00

abstract：BACKGROUND:Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system has been postulated to play a role in the pathophysiology of these symptoms. PATIENT DESCRIPTION:We present an 11-year-old girl wi...

journal_title：Pediatric neurology

authors： Ohno K,Saito Y,Ueda R,Togawa M,Ohmae T,Matsuda E,Fujiyama M,Maegaki Y

更新日期：2016-07-01 00:00:00

abstract：BACKGROUND:Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with cli...

journal_title：Pediatric neurology

authors： Aungaroon G,Hallinan B,Jain P,Horn PS,Spaeth C,Arya R

更新日期：2016-07-01 00:00:00

abstract：BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...

journal_title：Pediatric neurology

authors： Friedman JR

更新日期：2016-06-01 00:00:00

abstract：OBJECTIVE:We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt a...

journal_title：Pediatric neurology

authors： Holec M,Nagahama Y,Kovach C,Joshi C

更新日期：2016-06-01 00:00:00

abstract：BACKGROUND:We describe the growth and nutritional status of children with cerebral palsy (2 to 18 years old) in West China and to explore the correlation between the nutritional status and age, gender, and gross and fine motor function. METHODS:We performed a cross-sectional survey of children registered as having cer...

journal_title：Pediatric neurology

authors： Wang F,Cai Q,Shi W,Jiang H,Li N,Ma D,Wang Q,Luo R,Mu D

更新日期：2016-05-01 00:00:00

abstract：BACKGROUND:Sleep problems affect 30% to 80% of patients with mild traumatic brain injury. We assessed the prevalence of sleep disorders after mild traumatic brain injury and its correlation with other symptoms. METHODS AND MATERIALS:Individuals with mild traumatic brain injury were assessed at the New York University ...

journal_title：Pediatric neurology

authors： Tkachenko N,Singh K,Hasanaj L,Serrano L,Kothare SV

更新日期：2016-04-01 00:00:00

abstract：BACKGROUND:Cyclic vomiting syndrome is characterized by recurrent vomiting that is associated with increased adrenocorticotropic hormone and antidiuretic hormone levels during cyclic vomiting syndrome attacks. However, both prognosis and treatment remain unclear. We therefore evaluated the clinical features, prognosis,...

journal_title：Pediatric neurology

authors： Hikita T,Kodama H,Ogita K,Kaneko S,Nakamoto N,Mimaki M

更新日期：2016-04-01 00:00:00

abstract：:Syncope is a common problem in children and adolescents. It is typically caused by benign neurally mediated hypotension, but other, more concerning, etiologies of syncope must be considered. In most instances, the underlying cause of syncope in the pediatric patient can be determined by obtaining a thorough history an...

journal_title：Pediatric neurology

authors： Anderson JB,Willis M,Lancaster H,Leonard K,Thomas C

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Abnormalities of early motor development have been reported in autism spectrum disorder, attention-deficit/hyperactivity disorder, intellectual developmental disorder, developmental coordination disorder, and other Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE). Howe...

journal_title：Pediatric neurology

authors： Hatakenaka Y,Kotani H,Yasumitsu-Lovell K,Suzuki K,Fernell E,Gillberg C

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:Medical child abuse occurs when a child receives unnecessary and harmful, or potentially harmful, medical care at the instigation of a caretaker through exaggeration, falsification, or induction of symptoms of illness in a child. Neurological manifestations are common with this type of maltreatment. OBJECTI...

journal_title：Pediatric neurology

authors： Doughty K,Rood C,Patel A,Thackeray JD,Brink FW

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:The outcome of childhood acute lymphoblastic leukemia has improved because of intensive chemotherapy and supportive care. The frequency of adverse events has also increased, but the data related to acute central nervous system complications during acute lymphoblastic leukemia treatment are sparse. The purpos...

journal_title：Pediatric neurology

authors： Baytan B,Evim MS,Güler S,Güneş AM,Okan M

更新日期：2015-10-01 00:00:00

abstract：BACKGROUND:Brain radiotherapy plays a central role in the treatment of certain types of childhood primary central nervous system tumors. However, damage to surrounding normal brain tissue causes different acute and chronic medical and neurological complications. Despite the expected increase in number of childhood prim...

journal_title：Pediatric neurology

authors： Passos J,Nzwalo H,Marques J,Azevedo A,Netto E,Nunes S,Salgado D

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:A single-center, single-blind, parallel-group, randomized clinical trial was performed to test the null hypothesis that adrenocorticotropic hormone is not superior to high-dose prednisolone for treatment of newly diagnosed West syndrome. METHODS:Newly diagnosed infants with West syndrome were randomized to r...

journal_title：Pediatric neurology

authors： Wanigasinghe J,Arambepola C,Sri Ranganathan S,Sumanasena S,Attanapola G

更新日期：2015-09-01 00:00:00

abstract：BACKGROUND:Arterial ischemic stroke occurs more frequently in term newborns than in the elderly, and brain immaturity affects mechanisms of ischemic injury and recovery. The susceptibility to injury of the brain was assumed to be lower in the perinatal period as compared with childhood. This concept was recently challe...

journal_title：Pediatric neurology

authors： Titomanlio L,Fernández-López D,Manganozzi L,Moretti R,Vexler ZS,Gressens P

更新日期：2015-06-01 00:00:00

abstract：BACKGROUND:Peroxisomal disorders are classified in two major groups: (1) peroxisome biogenesis disorders and (2) single peroxisomal enzyme/transporter deficiencies. D-bifunctional protein deficiency (OMIM #261515) is included in this last group of rare diseases and leads to an impaired peroxisomal beta-oxidation. D-bif...

journal_title：Pediatric neurology

authors： Nascimento J,Mota C,Lacerda L,Pacheco S,Chorão R,Martins E,Garrido C

更新日期：2015-05-01 00:00:00

abstract：INTRODUCTION:The ketogenic diet is a valuable therapy for patients with intractable epilepsy, but it can result in a variety of complications that sometimes limits its usefulness. Hypoproteinemia is one of the common adverse effects of this diet, although the underling mechanism is largely unknown except for the diet's...

journal_title：Pediatric neurology

authors： Moriyama K,Watanabe M,Yamada Y,Shiihara T

更新日期：2015-05-01 00:00:00

abstract：BACKGROUND:Cerebrospinal fluid opening pressure is elevated with central nervous system infection and vasculitis, but has not been studied in inflammatory demyelinating disease. This retrospective study sought to determine whether children with demyelinating disease demonstrate elevated cerebrospinal fluid opening pres...

journal_title：Pediatric neurology

authors： Narula S,Liu GT,Avery RA,Banwell B,Waldman AT

更新日期：2015-04-01 00:00:00

abstract：BACKGROUND:This study developed a Farsi language Communication Function Classification System and then tested its reliability and validity. METHODS:Communication Function Classification System is designed to classify the communication functions of individuals with cerebral palsy. Up until now, there has been no instru...

journal_title：Pediatric neurology

authors： Soleymani Z,Joveini G,Baghestani AR

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:The juvenile form of GM1 gangliosidosis lacks specific physical findings and thus is often a diagnostic challenge for clinicians. T2 hypodensity in the globus pallidus is a characteristic radiographic sign of neurodegeneration with iron accumulation in the brain that is observed in GM1 gangliosidosis, but th...

journal_title：Pediatric neurology

authors： Takenouchi T,Kosaki R,Nakabayashi K,Hata K,Takahashi T,Kosaki K

更新日期：2015-02-01 00:00:00

abstract：BACKGROUND:Corpus callosum atrophy has been associated with cognitive and motor deficits in elderly people. However, the role of the corpus callosum in infant development is unclear. The aim of this study was to assess the impact of corpus callosum size on motor development in infants. METHODS:We investigated cerebral...

journal_title：Pediatric neurology

authors： Chang CL,Hung KL,Yang YC,Ho CS,Chiu NC

更新日期：2015-02-01 00:00:00

abstract：BACKGROUND:ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineu...

journal_title：Pediatric neurology

authors： Sweney MT,Newcomb TM,Swoboda KJ

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:Central nervous system complications of bone marrow transplant are a common occurrence and the differential diagnosis is quite broad, including opportunistic infections, medications toxicities, graft versus host disease, and other autoimmune processes. PATIENT DESCRIPTION:We summarize previously reported ca...

journal_title：Pediatric neurology

authors： Baumer FM,Kamihara J,Gorman MP

更新日期：2015-01-01 00:00:00

abstract：PURPOSE:Corpus callosotomy and vagus nerve stimulation are common palliative options for people with drug-resistant epilepsy when resective epilepsy surgery is not feasible. Because most of the published corpus callosotomy experience comes from a period before vagus nerve stimulation was approved and widely used, there...

journal_title：Pediatric neurology

authors： Arya R,Greiner HM,Horn PS,Turner M,Holland KD,Mangano FT

更新日期：2014-12-01 00:00:00

abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...

journal_title：Pediatric neurology

authors： Horst DM,Ruess L,Rusin JA,Bartholomew DW

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...

journal_title：Pediatric neurology

authors： Dufresne D,Dagenais L,Shevell MI,REPACQ Consortium.

更新日期：2014-11-01 00:00:00