Levetiracetam in continuous spike waves during slow-wave sleep syndrome.

abstract：:We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...

journal_title：Pediatric neurology

authors： Kluger G,Böhm I,Laub MC,Waldenmaier C

更新日期：1996-11-01 00:00:00

abstract：:Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...

journal_title：Pediatric neurology

authors： Ceulemans BP,Claes LR,Lagae LG

更新日期：2004-04-01 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：:A syndrome of rigidity, bradykinesia, spasticity, and often myoclonus and dementia developed acutely in 5 patients who had undergone successful engraftment of bone marrow transplants for the treatment of various hematologic diseases. Magnetic resonance imaging demonstrated widespread changes in white matter; brain bio...

journal_title：Pediatric neurology

authors： Lockman LA,Sung JH,Krivit W

更新日期：1991-11-01 00:00:00

abstract：:A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...

journal_title：Pediatric neurology

authors： Oki J,Takahashi S,Miyamoto A,Tachibana Y

更新日期：1999-10-01 00:00:00

abstract：:Insufficient nutrition is known to lead to disturbances in postnatal myelin formation. This study aims to demonstrate that early myelination is altered in human twin pregnancies. Five brains of twins with a symmetric blood supply and three brains of twins with chronic fetal-fetal transfusion syndrome (one hypervolemic...

journal_title：Pediatric neurology

authors： Ulfig N,Nickel J,Saretzki U

更新日期：1998-10-01 00:00:00

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：:We present a 2-year-old patient who showed progressive widespread white-matter abnormalities on magnetic resonance imaging 1 month after viral encephalitis, despite her good clinical recovery. These lesions on magnetic resonance imaging had not responded to therapies commonly used to treat secondary immune-mediated de...

journal_title：Pediatric neurology

authors： Awaya T,Kato T,Shibata M,Yamanaka Y,Nakahata T

更新日期：2008-03-01 00:00:00

abstract：:The mechanisms of death and neurologic sequelae in African children with cerebral malaria are undetermined. Because pathologic features are confined to the cerebral vasculature, perturbations in cerebral hemodynamics may be responsible. We compared the transcranial Doppler findings in 50 children with cerebral malaria...

journal_title：Pediatric neurology

authors： Newton CR,Marsh K,Peshu N,Kirkham FJ

更新日期：1996-07-01 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：:G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heteroz...

journal_title：Pediatric neurology

authors： Paciorkowski AR,Sathe S,Zeng BJ,Torres P,Rosengren SS,Kolodny E

更新日期：2008-04-01 00:00:00

abstract：:This report describes the case of an 11-year-old girl with a prior history of epilepsy and multiple episodes of status epilepticus who presented with generalized convulsive status epilepticus and left hemiclonic seizures. Magnetic resonance imaging, including diffusion-weighted sequences and spectroscopy, and neuropat...

journal_title：Pediatric neurology

authors： Tsuchida TN,Barkovich AJ,Bollen AW,Hart AP,Ferriero DM

更新日期：2007-04-01 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：:The pathophysiologic mechanism for stereotypic, bilateral repetitive movements involving the arms and hands (complex motor stereotypies) is unknown. This study used volumetric magnetic resonance imaging to compare cerebral lobes and caudate nucleus in six males with complex stereotypies and average intelligence to age...

journal_title：Pediatric neurology

authors： Kates WR,Lanham DC,Singer HS

更新日期：2005-02-01 00:00:00

abstract：:The case reports of 4 pediatric patients illustrate the complex clinical scenarios in which childhood rhabdomyolysis/myoglobinuria occurs. Children ranged in age from 8-18 years. Presumed etiologies of rhabdomyolysis/myoglobinuria included Neisseria sepsis, exertion-related episodes, dialysis disequilibrium, and diabe...

journal_title：Pediatric neurology

authors： Chamberlain MC

更新日期：1991-05-01 00:00:00

abstract：:The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndrom...

journal_title：Pediatric neurology

authors： Parano E,Pavone L,Fiumara A,Falsaperla R,Trifiletti RR,Dobyns WB

更新日期：1995-09-01 00:00:00

abstract：:A case of alternating hemiplegia of childhood is reported. Tonic fits and generalized tonic-clonic seizures developed during her infancy. Frequent twitching and apneic seizures appeared at 16 years of age. Zonisamide transiently suppressed the tonic, twitching and apneic seizures, as well as the facial and neck dyston...

journal_title：Pediatric neurology

authors： Saito Y,Sakuragawa N,Sasaki M,Sugai K,Hashimoto T

更新日期：1998-07-01 00:00:00

abstract：:Cardiac abnormalities, often heralded by electrocardiographic alterations, at times may become a serious problem in patients with neuromuscular disorders and occasionally lead to death. Electrocardiographic monitoring can identify patients whose conduction defects will benefit from the use of demand pacemakers. ...

journal_title：Pediatric neurology

authors： Arensman FW,Hartlage PL,Strong WB

更新日期：1985-03-01 00:00:00

abstract：:This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal do...

journal_title：Pediatric neurology

authors： Higuchi Y,Hongou M,Ozawa K,Kokawa H,Masaki M

更新日期：2005-05-01 00:00:00

abstract：:Potassium channel subunits encoded by several genes of the KCNQ family underlie the M-current. Specifically, KCNQ2 and KCNQ3 play a major role at most neuronal sites. Mutations in KCNQ2 or KCNQ3 that reduce the M-current are responsible for benign familial neonatal seizures, a rare autosomal dominant idiopathic epilep...

journal_title：Pediatric neurology

authors： Goldberg-Stern H,Kaufmann R,Kivity S,Afawi Z,Heron SE

更新日期：2009-11-01 00:00:00

abstract：:A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...

journal_title：Pediatric neurology

authors： Kothare SV,Pollack P,Kulberg AG,Ravin PD

更新日期：2000-01-01 00:00:00

abstract：:This report presents a patient with Devics neuromyelitis optica associated with primary Sjögrens syndrome. Her first attack was right-sided optic neuritis at age 10 years. Attacks involving both optic nerves and medulla spinalis were recorded during the ensuing years. The diagnosis of Sjögrens syndrome could not be ma...

journal_title：Pediatric neurology

authors： Gökçay F,Celebisoy N,Gökçay A,Kabasakal Y,Oder G

更新日期：2007-01-01 00:00:00

abstract：:Forty patients with Sturge-Weber syndrome were studied over a 26-year period. The nevus flammeus was unilateral in 27 patients (twice as often on left side) and bilateral in 13 patients. Only 3 of these 13 patients had bilateral cerebral lesions. Seizures, most of which were focal, were present in 32 patients (80%). T...

journal_title：Pediatric neurology

authors： Pascual-Castroviejo I,Díaz-Gonzalez C,García-Melian RM,Gonzalez-Casado I,Muñoz-Hiraldo E

更新日期：1993-07-01 00:00:00

abstract：:A 2-year-old boy with acute optic neuritis, confirmed by gadolinium-DTPA enhancement of the optic nerve using frequency-selective fat-saturation pulse magnetic resonance imaging (Fat-Sat MRI), is reported. Because it is difficult in very young children to sufficiently evaluate visual acuity, visual field, and retroocu...

journal_title：Pediatric neurology

authors： Takanashi J,Sugita K,Matsubayashi J,Sato K,Niimi H

更新日期：1996-01-01 00:00:00

abstract：:A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...

journal_title：Pediatric neurology

authors： Jan JE,Abroms IF,Freeman RD,Brown GM,Espezel H,Connolly MB

更新日期：1994-02-01 00:00:00

abstract：:Intrauterine cocaine exposure has been associated with multiple transient and permanent neurologic sequelae. Although dystonic reactions have been reported in cocaine users, infantile dystonia following intrauterine exposure has not. We describe 4 infants testing positive for cocaine metabolite at birth with subsequen...

journal_title：Pediatric neurology

authors： Beltran RS,Coker SB

更新日期：1995-05-01 00:00:00

abstract：AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS...

journal_title：Pediatric neurology

authors： Harmon KA,Day AM,Hammill AM,Pinto AL,McCulloch CE,Comi AM,National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group.

更新日期：2019-12-01 00:00:00

abstract：:The progression and characteristics of magnetic resonance imaging (MRI) and computed tomographic (CT) findings in 3 patients with infantile Krabbe disease (i.e., globoid cell leukodystrophy or galactocerebroside beta-galactosidase deficiency) are reported. We obtained initial CT and MRI studies when patients demonstra...

journal_title：Pediatric neurology

authors： Sasaki M,Sakuragawa N,Takashima S,Hanaoka S,Arima M

更新日期：1991-07-01 00:00:00

abstract：:An 11-year-old male was admitted with inability to walk and speech abnormality. He was diagnosed with subacute sclerosing panencephalitis on the basis of clinical and laboratory findings. Therapy with inosiplex (100 mg/kg/day orally) plus intrathecal interferon-alpha (3 million units/dose twice per week) and ribavirin...

journal_title：Pediatric neurology

authors： Caksen H,Odabaş D,Anlar O,Ataş B,Tuncer O

更新日期：2003-07-01 00:00:00

abstract：OBJECTIVE:To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. STUDY DESIGN:We investigated clinical and diffusion-weighted imaging findings in 32 patients with benign convulsions with m...

journal_title：Pediatric neurology

authors： Ogawa C,Kidokoro H,Ishihara N,Tsuji T,Kurahashi H,Hattori A,Suzuki M,Ogaya S,Ito Y,Fukasawa T,Kubota T,Okumura A,Saitoh S,Natsume J

更新日期：2020-08-01 00:00:00