BH4-sensitive hyperphenylalaninemia: new case and review of literature.

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 12-year-old girl with clinically established tuberous sclerosis complex, and without signs of neurofibromatosis type 1, developed a right retro-ocular optic nerve tumor. After rapid growth for 1 year after its discovery, the optic nerve tumor demonstrated modest progression. The patient received the mammalian target...

journal_title：Pediatric neurology

authors： Sparagana SP,Wilkes DC,Thompson CE,Bowers DC

更新日期：2010-06-01 00:00:00

abstract：:Nestin is a cytoskeletal protein expressed by neural stem cells, and by immature neurons and glial cells. In an effort to explore the potential of the infant brain for repair and plasticity, we immunohistochemically studied nestin expression in the human cerebral cortex of control subjects and of patients with periven...

journal_title：Pediatric neurology

authors： Okoshi Y,Mizuguchi M,Itoh M,Oka A,Takashima S

更新日期：2007-03-01 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：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：:Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...

journal_title：Pediatric neurology

authors： Braun MA,Rosman NP,Gould JB

更新日期：1986-07-01 00:00:00

abstract：:Mean rectal temperatures in neonates were investigated during sleep state transitions as assessed by visually analyzed electroencephalographic-polygraphic recordings. Continuous 3-hour studies were obtained on 3 term and 5 preterm infants at postconceptional term ages using a 24-channel computerized monitoring system....

journal_title：Pediatric neurology

authors： Scher MS,Dokianakis SG,Sun M,Steppe DA,Guthrie RD,Sclabassi RJ

更新日期：1994-05-01 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：:A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...

journal_title：Pediatric neurology

authors： Tabarki B,Mahdhaoui A,Selmi H,Yacoub M,Essoussi AS

更新日期：2001-09-01 00:00:00

abstract：:The etiology of Behr syndrome remains uncertain. A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described. Diffuse, symmetric white matter abnormalities were demonstrated by magnetic reson...

journal_title：Pediatric neurology

authors： Marzan KA,Barron TF

更新日期：1994-05-01 00:00:00

abstract：:Encephalopathy has been demonstrated to be associated with respiratory syncytial virus bronchiolitis. In this study, the data on all patients less than 14 years of age hospitalized with respiratory syncytial virus bronchiolitis over the past 4 years was reviewed. Patients who had concomitant diagnoses consistent with ...

journal_title：Pediatric neurology

authors： Sweetman LL,Ng YT,Butler IJ,Bodensteiner JB

更新日期：2005-05-01 00:00:00

abstract：:We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutatio...

journal_title：Pediatric neurology

authors： Chi CS,Lee HF,Tsai CR

更新日期：2012-02-01 00:00:00

abstract：:A 16-year-old girl developed right middle cerebral artery infarction and deep venous thrombosis of the lower extremities in association with circulating lupus-like anticoagulant. Currently, she is functionally independent with no further vascular insults and is being treated with sodium warfarin. This patient illustra...

journal_title：Pediatric neurology

authors： Kelley RE,Berger JR

更新日期：1987-01-01 00:00:00

abstract：:This study was undertaken to investigate the protective role of lactate on the hypoxic brain in newborn rats. A total of 107 7-day-old Wistar rats were divided into three groups. The lactate accumulation group was given 5% oxygen and 95% nitrogen for 30 minutes. The lactate elimination group was given 5% oxygen, a con...

journal_title：Pediatric neurology

authors： Ohki S,Togari H,Sobajima H,Fujimoto S,Kobayashi M,Hyodo J

更新日期：1999-08-01 00:00:00

abstract：:We investigated the clinical characteristics of children with continuous spike waves during slow-wave sleep syndrome and their treatment response to levetiracetam. Five boys and one girl, diagnosed with epilepsy with continuous spike waves during slow-wave sleep syndrome, were enrolled. Their clinical characteristics,...

journal_title：Pediatric neurology

authors： Wang SB,Weng WC,Fan PC,Lee WT

更新日期：2008-08-01 00:00:00

abstract：:An optimal botulinum toxin dose may be related to the volume of the targeted muscle. We investigated the suitability of using ultrasound and anthropometry to estimate gastrocnemius and soleus muscle volume. Gastrocnemius and soleus muscle thickness was measured in 11 cadaveric human legs, using ultrasound. Lower leg l...

journal_title：Pediatric neurology

authors： Bandholm T,Sonne-Holm S,Thomsen C,Bencke J,Pedersen SA,Jensen BR

更新日期：2007-10-01 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：OBJECTIVE:We evaluated the frequency of six commonly reported adult migraine premonitory symptoms in children and adolescents with episodic and chronic migraine and elicited psychological or behavioral comorbidities that may be associated with these symptoms. BACKGROUND:Premonitory symptoms are commonly reported in th...

journal_title：Pediatric neurology

authors： Jacobs H,Pakalnis A

更新日期：2019-08-01 00:00:00

abstract：:Between 1991-2006, nine patients below age 18 years, with a microbiologic documentation of Cryptococcus neoformans infection and no evidence of human immunodeficiency virus infection, were identified and treated at Chang Gung Children's Hospital. All exhibited central nervous system involvement. Seven patients were fe...

journal_title：Pediatric neurology

authors： Huang KY,Huang YC,Hung IJ,Lin TY

更新日期：2010-04-01 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：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...

journal_title：Pediatric neurology

authors： Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

更新日期：1986-11-01 00:00:00

abstract：:Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids c...

journal_title：Pediatric neurology

authors： Valik D,Miner PT,Jones JD

更新日期：1997-04-01 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: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: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：:In areas without expanded newborn screening, instead of presenting neonatally, patients with arginase deficiency typically present with spastic paraplegia in early childhood. Diagnosis of this rare neurometabolic disease poses the first challenge because it is often misdiagnosed as cerebral palsy during initial stages...

journal_title：Pediatric neurology

authors： Tsang JP,Poon WL,Luk HM,Fung CW,Ching CK,Mak CM,Lam CW,Siu TS,Tam S,Wong VC

更新日期：2012-10-01 00:00:00

abstract：:Subacute sclerosing panencephalitis is a rare neurologic disorder of childhood and adolescence. We describe a 16-year-old boy who manifested the disease despite proper vaccinations. He was hospitalized because of bedwetting, involuntary limb movements, abnormal speech, and balance disturbances. Immunoglobulin G antibo...

journal_title：Pediatric neurology

authors： Har-Even R,Aichenbaum S,Rabey JM,Livne A,Bistritzer T

更新日期：2011-06-01 00:00:00

abstract：:Risk factors for mortality of young children with cerebral palsy were studied using a sample of 12,709 children aged 0.5-3.5 years with cerebral palsy who had received services from the State of California between 1980 and 1995. The most powerful prognostic factors for survival were simple functional items: mobility a...

journal_title：Pediatric neurology

authors： Strauss DJ,Shavelle RM,Anderson TW

更新日期：1998-02-01 00:00:00

abstract：:Electrical status epilepticus during sleep syndrome and its variants are age-dependent epileptic encephalopathies associated with a sleep-related electroencephalographic pattern of continuous spike-waves, combined with motor or cognitive impairment. These epileptic encephalopathies are usually not responsive to conven...

journal_title：Pediatric neurology

authors： Bahi-Buisson N,Savini R,Eisermann M,Bulteau C,Dulac O,Hertz-Pannier L,Chiron C

更新日期：2006-02-01 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