abstract：BACKGROUND:Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the...

journal_title：Pediatric neurology

authors： Pavlović M,Neubauer D,Al Tawari A,Heberle LC

更新日期：2014-10-01 00:00:00

abstract：BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...

journal_title：Pediatric neurology

authors： Zhao B,Wei Q,Wang Y,Chen Y,Shang H

更新日期：2014-09-01 00:00:00

abstract：INTRODUCTION:In this study, we aimed to determine the serum, urine, and saliva levels of acyl ghrelin, des-acyl ghrelin, and obestatin in the newly diagnosed idiopathic generalized pediatric epilepsy patients in the pretreatment period and in the third month of valproic acid. MATERIAL AND METHODS:Thirty pre- and post-...

journal_title：Pediatric neurology

authors： Taskin E,Atli B,Kiliç M,Sari Y,Aydin S

更新日期：2014-09-01 00:00:00

abstract：BACKGROUND:Neurogenic pulmonary edema may be a complication of multiple neurological processes. Although there is debate regarding the underlying pathophysiology, the recognition of neurogenic pulmonary edema is vitally important because of the high-potential for mortality and need for treatment of the underlying disor...

journal_title：Pediatric neurology

authors： Sweeney M,Rubin J,Hopkins SE

更新日期：2014-09-01 00:00:00

abstract：:The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.002. The duplicate article has therefore been removed. The full Elsevier Policy on Article Removal can be found at http://www.elsevier.com/locate/withdra...

journal_title：Pediatric neurology

authors： Disabella MT

更新日期：2014-08-07 00:00:00

abstract：BACKGROUND:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness fr...

journal_title：Pediatric neurology

authors： Rocha J,Taipa R,Melo Pires M,Oliveira J,Santos R,Santos M

更新日期：2014-08-01 00:00:00

abstract：BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...

journal_title：Pediatric neurology

authors： Ozcelik AA,Serdaroglu A,Bideci A,Arhan E,Soysal Ş,Demir E,Gücüyener K

更新日期：2014-08-01 00:00:00

abstract：BACKGROUND:Proton magnetic resonance spectroscopy can be used to assess brain integrity and maturation with age. OBJECTIVE:To compare regional cerebral magnetic resonance spectroscopy metabolite ratios in extremely low birth weight and healthy term control infants measured at term-equivalent age and to evaluate associ...

journal_title：Pediatric neurology

authors： Bapat R,Narayana PA,Zhou Y,Parikh NA

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...

journal_title：Pediatric neurology

authors： Meadows JT Jr,Hayes D Jr

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is div...

journal_title：Pediatric neurology

authors： Dubey R,Chakrabarty B,Gulati S,Sharma MC,Deopujari S,Baheti N,Santosh V,Pai G,Kabra M

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystr...

journal_title：Pediatric neurology

authors： Diniz G,Tosun Yildirim H,Akinci G,Hazan F,Ozturk A,Yararbas K,Tukun A

更新日期：2014-06-01 00:00:00

abstract：INTRODUCTION:Spinal teratomas are extremely rare; they constitute <0.5% of all spinal cord tumors. These rare tumors have nonspecific manifestations but in most cases are accompanied by neurological deficits. Rupture of a mature teratoma can cause chemical meningitis. PATIENT DESCRIPTION:A 7-year-old boy presented wit...

journal_title：Pediatric neurology

authors： Mpayo LL,Liu XH,Xu M,Wang K,Wang J,Yang L

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant condition because of mutations or deletions of the FOXL2 gene. Microcephaly is not associated with FOXL2 mutations but has been reported in individuals with chromosome 3q deletions, which include the FOXL2 gene and other contiguous...

journal_title：Pediatric neurology

authors： Dean SJ,Holden KR,Dwivedi A,Dupont BR,Lyons MJ

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases. There is evidence that the Nav1.1 channel coded by the SCN1A gene is involved in sleep regulation. We evaluated sleep abnormalities in children with Dravet syndrome using nocturnal polysomnogra...

journal_title：Pediatric neurology

authors： Dhamija R,Erickson MK,St Louis EK,Wirrell E,Kotagal S

更新日期：2014-05-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Febrile convulsions and allergic rhinitis are both common childhood disorders and both are considered as generally benign disorders. Yet, especially in the case of allergic rhinitis, adverse effects on school performance and limited socialization are found. The relationship between febrile con...

journal_title：Pediatric neurology

authors： Lin WY,Muo CH,Ku YC,Sung FC,Kao CH

更新日期：2014-04-01 00:00:00

abstract：BACKGROUND:Herpes simplex virus encephalitis can manifest as a range of clinical presentations including classic adult, neonatal, and biphasic chronic-granulomatous herpes encephalitis. METHOD:We report an infant with granulomatous herpes simplex virus type 2 encephalitis with a subacute course and multicystic encepha...

journal_title：Pediatric neurology

authors： Schutz PW,Fauth CT,Al-Rawahi GN,Pugash D,White VA,Stockler S,Dunham CP

更新日期：2014-04-01 00:00:00

abstract：BACKGROUND:Human cytomegalovirus, a major cause of permanent neurodevelopmental disability in children, frequently produces intracranial abnormalities, including calcifications and polymicrogyria, in infants with congenital cytomegalovirus infections. This report describes the features of cerebral cortical clefting, in...

journal_title：Pediatric neurology

authors： White AL,Hedlund GL,Bale JF Jr

更新日期：2014-03-01 00:00:00

abstract：BACKGROUND:A cause cannot be determined in 30% to 50% of patients with intellectual disability. Determining the etiology of intellectual disability is important and useful for pediatric neurologists, geneticists, pediatricians, and patients' families because it allows assessment of recurrence risk, appropriate genetic ...

journal_title：Pediatric neurology

authors： Medina A,Piñeros L,Arteaga C,Velasco H,Izquierdo A,Giraldo A,Espinosa E

更新日期：2014-03-01 00:00:00

abstract：BACKGROUND:Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS:Patients with chronic...

journal_title：Pediatric neurology

authors： Watemberg N,Matar M,Har-Gil M,Mahajnah M

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in...

journal_title：Pediatric neurology

authors： Duat-Rodríguez A,Carceller Lechón F,López Pino MÁ,Rodríguez Fernández C,González-Gutiérrez-Solana L

更新日期：2014-01-01 00:00:00

abstract：PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...

journal_title：Pediatric neurology

authors： Jadav RH,Sinha S,Yasha TC,Aravinda H,Gayathri N,Rao S,Bindu PS,Satishchandra P

更新日期：2014-01-01 00:00:00

abstract：INTRODUCTION:Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thou...

journal_title：Pediatric neurology

authors： Ohshiro-Sasaki A,Shimbo H,Takano K,Wada T,Osaka H

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVE:We evaluated the levels of cerebrospinal fluid concentrations of tumor necrosis factor-α, interleukin-6, and interleukin-8 in bacterial meningitis in children. METHODS:The study included children up to 14 years of age admitted to a pediatric ward with fever, headache, vomiting, and seizures. The diagnosis of...

journal_title：Pediatric neurology

authors： Prasad R,Kapoor R,Srivastava R,Mishra OP,Singh TB

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. PATIENT:We describe a 7-year-old girl with a presentation of cerebellitis following group A streptococcal infection. RESULTS:Magnetic resonance imaging showed diffuse symmetrical swelling and ed...

journal_title：Pediatric neurology

authors： Uchizono H,Iwasa T,Toyoda H,Takahashi Y,Komada Y

更新日期：2013-12-01 00:00:00

abstract：BACKGROUND:Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel-coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener...

journal_title：Pediatric neurology

authors： Walleigh DJ,Legido A,Valencia I

更新日期：2013-11-01 00:00:00

abstract：BACKGROUND:Sporadic and familial hemiplegic migraines are rare paroxysmal disorders characterized by transient hemiparesis and headache. The distinction is based on whether other family members are affected. In 50% of cases, these migraines are caused by CACNA1 A missense mutations. PATIENTS:We describe a boy with a p...

journal_title：Pediatric neurology

authors： Sánchez-Albisua I,Schöning M,Jurkat-Rott K,Lerche H

更新日期：2013-10-01 00:00:00

abstract：:Central nervous system (CNS) vasculitis is rare in childhood. Diagnosis is sometimes difficult, and imaging methods range from MRI to MRA to conventional angiography. In doubtful cases a brain biopsy is necessary for diagnostic purposes. We describe a 6-year old child affected with primary angiitis of the CNS who was ...

journal_title：Pediatric neurology

authors： Rosati A,Pianigiani N,Pagnini I,Guerrini R,Cimaz R,Simonini G

更新日期：2013-08-01 00:00:00

abstract：:Neuroblastoma associated with the paraneoplastic syndrome of opsoclonus-myoclonus is well-described. However, presentation with narcolepsy-cataplexy is not well-documented in the literature. Narcolepsy with cataplexy is also rare in children younger than 5 years of age. Here we describe three patients, each presenting...

journal_title：Pediatric neurology

authors： Sinsioco C,Silver K,Forrest KM,Gray J,Nechay A,Sheldon S,Chelmicka Schorr E

更新日期：2013-07-01 00:00:00

abstract：BACKGROUND:Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can a...

journal_title：Pediatric neurology

authors： Waugh JL

更新日期：2013-07-01 00:00:00

abstract：:Epilepsy is a common disorder in pediatric neurology, and electroencephalography (EEG) continues to play an important role in its diagnosis. However, the small size of a child's head and immaturity of the brain make EEG interpretation more difficult in children than in adults. This article presents a new method of EEG...

journal_title：Pediatric neurology

authors： Nikkhah K,Shoeibi A,Hasanpour M

更新日期：2013-06-01 00:00:00

abstract：:Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neu...

journal_title：Pediatric neurology

authors： Dolce A,Ben-Zeev B,Naidu S,Kossoff EH

更新日期：2013-05-01 00:00:00

abstract：:This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...

journal_title：Pediatric neurology

authors： Cantarín-Extremera V,Duat-Rodríguez A,González-Gutiérrez-Solana L,López-Marín L,Armangue T

更新日期：2013-05-01 00:00:00

abstract：:We present a 5-year survival profile of 42 children and adolescents between 1 to 21 years of age in an immobile minimally conscious state, chronically dependent on supportive ventilation. Data were collected from a 22-bed pediatric unit dedicated to this unique population, within a 350-bed geriatric hospital, between ...

journal_title：Pediatric neurology

authors： Gale R,Namestnic J

更新日期：2013-04-01 00:00:00

abstract：:Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...

journal_title：Pediatric neurology

authors： Erol I,Kılıçarslan B,Saygi S,Demir S,Alehan F

更新日期：2013-04-01 00:00:00

abstract：:Acute encephalopathy with biphasic seizures and late reduced diffusion was recently established clinicoradiologically as an encephalopathy syndrome. The outcome of this encephalopathy is characterized by a low mortality rate and high incidence of neurologic sequelae. Although the exact pathogenesis of this encephalopa...

journal_title：Pediatric neurology

authors： Matsuo M,Maeda T,Ono N,Sugihara S,Kobayashi I,Koga D,Hamasaki Y

更新日期：2013-03-01 00:00:00

abstract：:Mild encephalopathy with reversible splenial lesions has mainly been associated with influenza A and B virus infection. Patients present with neurologic symptoms 1 to 3 days after a prodromal illness and recover completely within a few days. Magnetic resonance imaging typically shows reversible lesions with reduced di...

journal_title：Pediatric neurology

authors： Abenhaim Halpern L,Agyeman P,Steinlin M,El-Koussy M,Grunt S

更新日期：2013-03-01 00:00:00

abstract：:Perinatal stroke is presented as the ideal human model of developmental neuroplasticity. The precise timing, mechanisms, and locations of specific perinatal stroke diseases provide common examples of well defined, focal, perinatal brain injuries. Motor disability (hemiparetic cerebral palsy) constitutes the primary ad...

journal_title：Pediatric neurology

authors： Kirton A

更新日期：2013-02-01 00:00:00

abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...

journal_title：Pediatric neurology

authors： Yilmaz S,Turhan T,Mutluer S,Aydogdu S

更新日期：2013-02-01 00:00:00

abstract：:The involvement of the cerebellum in unfavorable outcomes of extreme prematurity is increasingly recognized. Evidence implicates both cerebellar injury and cerebellar growth failure, which, along with supratentorial lesions, aggravate motor and developmental outcomes. We describe clinical and neuroradiologic findings ...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Ververi A,Anastasiou A,Soubasi V,Vargiami E

更新日期：2013-01-01 00:00:00

abstract：:The peripartum period entails the next prenatal interval when novel neuroprotective strategies will be designed and tested. Research development will lead to novel evaluations for maternal-fetal pairs who require inpatient treatment and possible delivery for worsening or acute neurologic problems. Future studies shoul...

journal_title：Pediatric neurology

authors： Scher MS

更新日期：2012-12-01 00:00:00