Cryptic x; autosome translocation in a boy--delineation of the phenotype.

abstract：:In this mixed-methods study, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among our pediatric multiple sclerosis cohort. Adolescents were interviewed to explore their experiences with multiple sclerosis and the impact of peer relationships on adherence to treatment. Se...

journal_title：Pediatric neurology

authors： Thannhauser JE,Mah JK,Metz LM

更新日期：2009-08-01 00:00:00

abstract：:We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleed...

journal_title：Pediatric neurology

authors： Crespin M,Alhenc-Gelas M,Grangé G,Fallet-Bianco C,Fontenay M

更新日期：2009-10-01 00:00:00

abstract：:A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immu...

journal_title：Pediatric neurology

authors： Nagai T,Tuchiya Y,Maruyama A,Sakuta R,Nonaka I

更新日期：1993-05-01 00:00:00

abstract：:We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega...

journal_title：Pediatric neurology

authors： Bindu PS,Taly AB,Sinha S,Bharath RD

更新日期：2010-02-01 00:00:00

abstract：:Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...

journal_title：Pediatric neurology

authors： Lundy CT,Jungbluth H,Pohl KR,Siddiqui A,Marinaki AM,Mundy H,Champion MP

更新日期：2010-11-01 00:00:00

abstract：:Central nervous system tumors occur considerably less often in the fetus and neonate than in the older child. They are not entirely the same as those present later in life. Their location, biologic behavior, response to therapy, and histologic types are different. Fetal and neonatal brain tumors (n = 250) were collect...

journal_title：Pediatric neurology

authors： Isaacs H Jr

更新日期：2002-11-01 00:00:00

abstract：OBJECTIVE:We describe the trends in antiepileptic drug (AED) use in children and adolescents with epilepsy in the United States. METHODS:We undertook a cross-sectional study based on Medicaid Analytic eXtract data set from 26 US states. Children and adolescents aged three to 18 years with at least one year continuous ...

journal_title：Pediatric neurology

authors： Liu X,Carney PR,Bussing R,Segal R,Cottler LB,Winterstein AG

更新日期：2017-09-01 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：:An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, ...

journal_title：Pediatric neurology

authors： Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NM

更新日期：2009-07-01 00:00:00

abstract：:The outcomes of 60 children unconscious for 90 days or longer following acquired brain injury are reported. Eight children who died had remained in persistent vegetative states. As expected, most neurologic improvement occurred within the first year after injury, although some delayed improvements were observed. Outco...

journal_title：Pediatric neurology

authors： Kriel RL,Krach LE,Jones-Saete C

更新日期：1993-09-01 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：:Serial examination of the cerebral hemispheres of 20 sudden infant death syndrome victims revealed high incidence of leukomalacia (40%), leptomeningeal glioneuronal heterotopias (70%) at the base of the cerebrum, and astrogliosis (65%) in the white matter and medulla reticular formation compared with 20 age-matched co...

journal_title：Pediatric neurology

authors： Obonai T,Takashima S

更新日期：1998-07-01 00:00:00

abstract：:Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...

journal_title：Pediatric neurology

authors： Dyken PR,DuRant RH,Minden DB,King DW

更新日期：1985-01-01 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：:Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portu...

journal_title：Pediatric neurology

authors： Garcia P,Rodrigues F,Valongo C,Salomons GS,Diogo L

更新日期：2012-01-01 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：: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：:We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A hetero...

journal_title：Pediatric neurology

authors： Rocha R,Soro I,Leitão A,Silva ML,Leão M

更新日期：2012-08-01 00:00:00

abstract：:Nocturnal frontal-lobe epilepsy is characterized by paroxysmal arousals, motor seizures with dystonic or hyperkinetic features, and episodic nocturnal wanderings. Carbamazepine is effective for seizure control in some of these patients, but seizures may be refractory to multiple antiepileptic drugs. We report on eight...

journal_title：Pediatric neurology

authors： Raju GP,Sarco DP,Poduri A,Riviello JJ,Bergin AM,Takeoka M

更新日期：2007-11-01 00:00:00

abstract：:The aim of this study was to investigate the effect of family structure and the attitude of mothers on the development of breath-holding spells. The data of the Sociodemographic and Parental Attitude Research Instruments of 30 mothers of children with breath-holding spells and of 30 mothers of healthy children were co...

journal_title：Pediatric neurology

authors： Hüdaoglu O,Dirik E,Yiş U,Kurul S

更新日期：2006-07-01 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: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：:Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appeara...

journal_title：Pediatric neurology

authors： Dlamini N,Muthusami P,Amlie-Lefond C

更新日期：2019-02-01 00:00:00

abstract：:Nerve growth factor (NGF) in cerebrospinal fluid was measured by ELISA in ten children with postinfectious diseases and in five children with diseases suggested to be of autoimmune etiology. Three groups of patients were studied: (1) those with moderately elevated concentrations (50.67 +/- 17.02 pg/mL, mean and SEM), ...

journal_title：Pediatric neurology

authors： Riikonen RS,Söderström S,Korhonen LT,Lindholm DB

更新日期：1998-03-01 00:00:00

abstract：:The most effective method for the screening and monitoring of optic pathway gliomas in children with neurofibromatosis type 1 remains a dilemma. Children less than 6 years of age are the group at highest risk for the development of optic pathway gliomas. Although an annual ophthalmologic examination currently is recom...

journal_title：Pediatric neurology

authors： Ng YT,North KN

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:The Hammersmith Infant Neurological Examination is one of several useful tools for early identification of cerebral palsy; however, cut-off scores for cerebral palsy do not consistently distinguish infants with hemiplegia from those typically developing. We hypothesized that use of an asymmetry score, in add...

journal_title：Pediatric neurology

authors： Hay K,Nelin M,Carey H,Chorna O,Moore-Clingenpeel Ma Mas M,Maitre N,NCH Early Developmental Group.

更新日期：2018-10-01 00:00:00

abstract：:The patient is a 10-year-old male who experienced somnolence and incomplete quadriplegia after headache and vomiting, without exanthema, for 3 days. The clinical course and magnetic resonance imaging findings of the brain and spinal cord were compatible with acute disseminated encephalomyelitis. The serologic examinat...

journal_title：Pediatric neurology

authors： Nagai K,Mori T

更新日期：1999-05-01 00:00:00

abstract：:Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials....

journal_title：Pediatric neurology

authors： Wang PJ,Young C,Liu HM,Chang YC,Shen YZ

更新日期：1995-01-01 00:00:00

abstract：:Ischemic and hemorrhagic stroke can occur in the setting of pediatric trauma, particularly those with head or neck injuries. The risk of stroke appears highest within the first two weeks after trauma. Stroke diagnosis may be challenging due to lack of awareness or concurrent injuries limiting detailed neurological ass...

journal_title：Pediatric neurology

authors： Galardi MM,Strahle JM,Skidmore A,Kansagra AP,Guilliams KP

更新日期：2020-07-01 00:00:00

abstract：:Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...

journal_title：Pediatric neurology

authors： Isumi H,Takashima S,Kakita A,Yamada M,Ikeda K,Mizuguchi M

更新日期：1997-01-01 00:00:00