Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine.

abstract：:Melioidosis from Pseudomonas pseudomallei is common in endemic areas (particularly southeast Asia) and is being recognized with increasing frequency in developed countries. Central nervous system involvement is a rare complication with a high mortality. A patient with multiple cerebral abscesses caused by this organis...

journal_title：Pediatric neurology

authors： Pelekanos JT,Appleton DB

更新日期：1989-01-01 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：: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：:The Fontan operation is one of the most common cardiac operations for children with congenital heart disease beyond the first year of age. Although the surgical mortality of this procedure has improved over the past 2 decades, the neurologic outcome in this population is not well described. We performed a retrospectiv...

journal_title：Pediatric neurology

authors： du Plessis AJ,Chang AC,Wessel DL,Lock JE,Wernovsky G,Newburger JW,Mayer JE Jr

更新日期：1995-04-01 00:00:00

abstract：:The diagnosis of postinfectious encephalomyelitis with symmetric lesions in the basal ganglia was confirmed by magnetic resonance imaging in 2 patients. A 7-year-old patient experienced severe dystonia and hyperreflexia; magnetic resonance imaging demonstrated bilateral lesions in the putamina and basis pontes. The ot...

journal_title：Pediatric neurology

authors： Donovan MK,Lenn NJ

更新日期：1989-09-01 00:00:00

abstract：:Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with ...

journal_title：Pediatric neurology

authors： Cohen HA,Nussinovitch M,Ashkenasi A,Straussberg R,Kauschanksy A,Frydman M

更新日期：1993-11-01 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：:Three brothers, born to parents who were first cousins, were referred for progressive diffuse dystonia. Initial physical examinations revealed minor dysmorphic features, e.g., bifrontal narrowing, downslanting palpebral fissures, low-set ears, upturned nostrils, and microretrognathia, as well as neurodevelopmental del...

journal_title：Pediatric neurology

authors： Yosunkaya E,Karaca E,Basaran S,Seven M,Yüksel A

更新日期：2010-05-01 00:00:00

abstract：BACKGROUND:Concern exists regarding a possible harmful impact of vacuum extraction on the preterm newborn. We aimed to evaluate the long-term pediatric neurodevelopmental outcomes of the preterm offspring after vacuum extraction. METHODS:A population-based cohort analysis was performed comparing the risk for long-term...

journal_title：Pediatric neurology

authors： Schwarzman P,Sheiner E,Wainstock T,Mastrolia SA,Segal I,Landau D,Walfisch A

更新日期：2019-05-01 00:00:00

abstract：:Musicogenic epilepsy is a relatively rare form of epilepsy. In its pure form, it is characterized by epileptic seizures that are provoked exclusively by listening to music. The usual type of seizure is partial complex or generalized tonic-clonic. Precipitating factors are quite specific, such as listening to only one ...

journal_title：Pediatric neurology

authors： Lin KL,Wang HS,Kao PF

更新日期：2003-05-01 00:00:00

abstract：:Positron emission tomography (PET) using 18F-labeled 2-deoxy-D-glucose was performed serially in 5 infants with idiopathic West syndrome. While tonic spasms persisted, 2 infants had hypometabolism in the bilateral temporo-parieto-occipital regions, which disappeared after cessation of spasms. In 2 other infants, PET r...

journal_title：Pediatric neurology

authors： Maeda N,Watanabe K,Negoro T,Aso K,Haga Y,Kito M,Ohki T,Ito K,Kato T

更新日期：1993-11-01 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：:Resting cerebral glucose metabolism was assessed by 18[F]-fluorodeoxyglucose in 11 Down syndrome patients. Standardized uptake values were determined on a pixel-by-pixel basis from the measured tissue-activity data. The results revealed a mean overall 18[F]-fluorodeoxyglucose uptake in the Down syndrome patients close...

journal_title：Pediatric neurology

authors： Lengyel Z,Balogh E,Emri M,Szikszai E,Kollár J,Sikula J,Esik O,Trón L,Oláh E

更新日期：2006-04-01 00:00:00

abstract：:A boy presented with hypertension, seizures, lethargy, headache, and occipital blindness. He improved with antihypertensive therapy. Other reported children with a similar distinctive clinical condition are compared with adults with a syndrome termed reversible posterior leukoencephalopathy. Because both gray and whit...

journal_title：Pediatric neurology

authors： Pavlakis SG,Frank Y,Kalina P,Chandra M,Lu D

更新日期：1997-02-01 00:00:00

abstract：:We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqued...

journal_title：Pediatric neurology

authors： García-Silva MT,Ribes A,Campos Y,Garavaglia B,Arenas J

更新日期：1997-09-01 00:00:00

abstract：:Three Chinese girls with hypokalemic periodic paralysis secondary to different types of renal tubular acidosis are presented. One girl has primary distal renal tubular acidosis complicated with nephrocalcinosis. Another has primary Sjögren syndrome with distal renal tubular acidosis, which occurs rarely with hypokalem...

journal_title：Pediatric neurology

authors： Chang YC,Huang CC,Chiou YY,Yu CY

更新日期：1995-07-01 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：: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：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：: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：:Eastern equine encephalitis (EEE) virus causes a severe meningoencephalitis with high morbidity and mortality. Despite numerous clinical reports of EEE, there are only 11 patients in whom cranial computed tomographic (CT) findings are described. In 6 patients, CT was normal and in 5 patients diffuse edema was present;...

journal_title：Pediatric neurology

authors： Morse RP,Bennish ML,Darras BT

更新日期：1992-11-01 00:00:00

abstract：:Sturge-Weber syndrome without facial nevus is rare. Twenty-four cases were previously reported. Although hypomelanosis of Ito is a relatively common disorder, there was only one previous case in association with Sturge-Weber syndrome. We describe an 11-year-old boy with Sturge-Weber syndrome without facial nevus, coex...

journal_title：Pediatric neurology

authors： Değerliyurt A,Kantar A,Ceylaner S,Aysun S

更新日期：2009-05-01 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 canine gliosarcoma model was used to study the effectiveness of magnetic resonance imaging (MRI) with gadolinium contrast enhancement in defining the histologic margins of brain tumors. The effectiveness of this technique was compared to conventional computed tomography (CT) using iodinated contrast enhancement. Cul...

journal_title：Pediatric neurology

authors： Whelan HT,Clanton JA,Wilson RE,Tulipan NB

更新日期：1988-09-01 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：:The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...

journal_title：Pediatric neurology

authors： Swaiman KF

更新日期：2001-08-01 00:00:00

abstract：:We sought a simple and accurate method to monitor neonatal hydrocephalic infants using standard computed tomographic scans. Volume measurements were made by means of pixel counting using a personal computer and a drawing device, as a graphic tablet system, over computed tomographic scans of six infants with neonatal h...

journal_title：Pediatric neurology

authors： Morimoto K,Nishikuni K,Hirano S,Takemoto O,Futagi Y

更新日期：2003-11-01 00:00:00

abstract：:A neuropathologic study was undertaken to examine associated brain damage in patients with fetal and neonatal posthemorrhagic hydrocephalus (PHH). In PHH the association of periventricular leukomalacia and pontosubicular necrosis was not increased, but that of cerebellar subarachnoid hemorrhage and olivo-cerebellar pa...

journal_title：Pediatric neurology

authors： Fukumizu M,Takashima S,Becker LE

更新日期：1995-10-01 00:00:00

abstract：:A wide cavum septum pellucidum defined as a separation of greater than 1 cm of the leaves occurs uncommonly. Nine children with wide cavum septum pellucidum were studied; 8 were abnormal. Observed abnormalities included cognitive impairment (8), seizures (4), hypoplasia of the corpus callosum (4), optic nerve hypoplas...

journal_title：Pediatric neurology

authors： Bodensteiner JB,Schaefer GB

更新日期：1990-11-01 00:00:00

abstract：:"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analy...

journal_title：Pediatric neurology

authors： Dixit A,Chow G,Sarkar A

更新日期：2011-11-01 00:00:00