Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.

abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...

journal_title：Journal of child neurology

authors： Matthews DJ,James KA,Miller LA,Pandya S,Campbell KA,Ciafaloni E,Mathews KD,Miller TM,Cunniff C,Meaney FJ,Druschel CM,Romitti PA,Fox DJ,MD STARnet.

更新日期：2010-11-01 00:00:00

abstract：:The objective of this study was to compare the efficacy of corticotropin (ACTH) versus vigabatrin in treating infantile spasms and to determine which medication has a more favorable long-term outcome in terms of cognitive function, evolution of epilepsy, and incidence of autism. Patients with infantile spasms were inc...

journal_title：Journal of child neurology

authors： Askalan R,Mackay M,Brian J,Otsubo H,McDermott C,Bryson S,Boyd J,Snead C 3rd,Roberts W,Weiss S

更新日期：2003-03-01 00:00:00

abstract：:Advances in intraoperative neuroelectrodiagnostic testing and microneurosurgical techniques have made it possible to accurately explore the brachial plexus of neonates. Since 1987, we have followed 250 infants with birth-related brachial plexus injuries, and successful operations have been completed on more than 70 in...

journal_title：Journal of child neurology

authors： Laurent JP,Lee RT

更新日期：1994-04-01 00:00:00

abstract：:A 13-month-old boy presented with repeated episodes of tongue biting during sleep. On evaluation, he was found to have hereditary chin trembling, a rare autosomal dominant condition characterized by continuous or intermittent tremulous activity of the mentalis muscle. This is the first report of this kind from India. ...

journal_title：Journal of child neurology

authors： Goraya JS,Virdi V,Parmar V

更新日期：2006-11-01 00:00:00

abstract：:The past 10 years' experience with bone marrow transplantation from normal, immunologically compatible donors indicates its possible use in various neurometabolic diseases, particularly in a patient who has not suffered irreparable brain damage. This experience may be a prelude to treatment by somatic gene therapy. Th...

journal_title：Journal of child neurology

authors： Ozand PT,Gascon GG

更新日期：1992-04-01 00:00:00

abstract：:Recently described, the congenital Zika syndrome caused by the Zika virus has many features of other congenital infections. This case series study reports 22 infants with congenital Zika syndrome in Brazil who developed infantile spasms during their first year of life. The median age of infantile spasms onset was 4.3 ...

journal_title：Journal of child neurology

authors： Alves LV,Mello MJG,Bezerra PG,Alves JGB

更新日期：2018-09-01 00:00:00

abstract：:This article reports the results of a study on the relationship between cord blood levels of erythropoietin and periventricular leukomalacia. Cord blood was obtained from 19 infants with gestational age between 27 and 32 weeks. Cystic periventricular leukomalacia was seen in 4 of them. Erythropoietin levels were not d...

journal_title：Journal of child neurology

authors： Okumura A,Kidokoro H,Kato T,Kubota T,Hayakawa F,Kuno K,Watanabe K

更新日期：2008-02-01 00:00:00

abstract：:This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...

journal_title：Journal of child neurology

authors： Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni E

更新日期：2012-12-01 00:00:00

abstract：:The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, ...

journal_title：Journal of child neurology

authors： Lee IC,Chen YJ,Lee HS,Li SY

更新日期：2014-12-01 00:00:00

abstract：:A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the choline signal intensity, respectively, in the right cerebral hemisphere. This is the s...

journal_title：Journal of child neurology

authors： Sigirci A,Alkan A,Kutlu R,Gülcan H

更新日期：2005-08-01 00:00:00

abstract：:This study presents a large multicenter cohort of children with cerebral venous thrombosis from 5 centers in the United States and analyzes their clinical findings and risk factors. Seventy patients were included in the study (25 neonates, 35%). The age ranged from 6 days to 12 years. Thirty-eight (55%) were younger t...

journal_title：Journal of child neurology

authors： Wasay M,Dai AI,Ansari M,Shaikh Z,Roach ES

更新日期：2008-01-01 00:00:00

abstract：:Isolated paraventricular frontal horn cysts are sometimes encountered on cranial ultrasound examinations of preterm neonates. The etiology and clinical significance of these lesions are unclear. The authors aimed to identify antenatal/intrapartum risk factors associated with the occurrence of these cysts and to assess...

journal_title：Journal of child neurology

authors： Trawber R,Rao S,Srinivasjois R,Thonell S,Nagarajan L,French N,Jacoby P,McMichael J

更新日期：2010-11-01 00:00:00

abstract：:The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...

journal_title：Journal of child neurology

authors： Alvord EC Jr,Jahnke U,Fischer EH,Kies MW,Driscoll BF,Compston DA

更新日期：1987-10-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...

journal_title：Journal of child neurology

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 00:00:00

abstract：BACKGROUND:The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, ...

journal_title：Journal of child neurology

authors： Wibbeler E,Wang R,Reyes EL,Specchio N,Gissen P,Guelbert N,Nickel M,Schwering C,Lehwald L,Trivisano M,Lee L,Amato G,Cohen-Pfeffer J,Shediac R,Leal-Pardinas F,Schulz A

更新日期：2020-12-23 00:00:00

abstract：:To evaluate the effect of early treatment of congenital hypothyroidism on central nervous system development, auditory brainstem evoked potentials were determined in 32 patients with hyperthyrotropinemia diagnosed during neonatal screening. The patients included 27 with congenital hypothyroidism and 5 with transient h...

journal_title：Journal of child neurology

authors： Chou YH,Wang PJ

更新日期：2002-07-01 00:00:00

abstract：:Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...

journal_title：Journal of child neurology

authors： Sarnat HB,Flores-Sarnat L,Wei XC

更新日期：2017-05-01 00:00:00

abstract：:Congenital lumbar spinal stenosis is believed to rarely cause neurologic symptoms during childhood. We present a 16-year-old boy with bilateral congenital clubfeet surgically corrected by tendo Achillis releases at 2 years of age who presented with progressive, bilateral footdrop. Magnetic resonance imaging of his lum...

journal_title：Journal of child neurology

authors： Ng YT,Mancias P,Butler IJ

更新日期：2002-01-01 00:00:00

abstract：:The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. Although most cases exhibit severe muscle weakness and hypotonia neonatally with short life spans, some cases exhibit a later onset with a longer life span and show cerebellar atrophy w...

journal_title：Journal of child neurology

authors： Sanefuji M,Kira R,Matsumoto K,Gondo K,Torisu H,Kawakami H,Iwaki T,Hara T

更新日期：2010-11-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the rati...

journal_title：Journal of child neurology

authors： Eichler F,Tan WH,Shih VE,Grant PE,Krishnamoorthy K

更新日期：2006-09-01 00:00:00

abstract：:Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...

journal_title：Journal of child neurology

authors： Hogan AM,Telfer PT,Kirkham FJ,de Haan M

更新日期：2013-10-01 00:00:00

abstract：:We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...

journal_title：Journal of child neurology

authors： Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

更新日期：1991-04-01 00:00:00

abstract：:Subacute sclerosing panencephalitis is an encephalopathy caused by a persistent measles virus infection. We examined a 13-year-old girl with subacute sclerosing panencephalitis and performed a magnetic resonance spectroscopic study to evaluate the in vivo pathophysiologic abnormality. The results suggested the occurre...

journal_title：Journal of child neurology

authors： Kato Z,Saito K,Yamada M,Asano T,Kondo N

更新日期：2002-10-01 00:00:00

abstract：:Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of macrocephaly as about 50%, and report that macrocephaly in patients with neurofibromatosis-1 does not appear to be relat...

journal_title：Journal of child neurology

authors： Cutting LE,Koth CW,Burnette CP,Abrams MT,Kaufmann WE,Denckla MB

更新日期：2000-03-01 00:00:00

abstract：:The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, intention tremor, motor...

journal_title：Journal of child neurology

authors： Waugh JL,Miller VS,Chudnow RS,Dowling MM

更新日期：2008-07-01 00:00:00

abstract：:Understanding patterns of medical comorbidity in attention-deficit/hyperactivity disorder (ADHD) may lead to better treatment of affected individuals as well as aid in etiologic study of disease. This article provides the first systematic evaluation on the medical comorbidity of ADHD in a nationally representative sam...

journal_title：Journal of child neurology

authors： Jameson ND,Sheppard BK,Lateef TM,Vande Voort JL,He JP,Merikangas KR

更新日期：2016-10-01 00:00:00

abstract：:Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the c...

journal_title：Journal of child neurology

authors： Shinnick JE,Schadt K,Strawser C,Wilcox N,Perlman SL,Wilmot GR,Gomez CM,Mathews KD,Yoon G,Zesiewicz T,Hoyle C,Subramony SH,Yiu EM,Delatycki MB,Brocht AF,Farmer JM,Lynch DR

更新日期：2016-08-01 00:00:00

abstract：:The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cog...

journal_title：Journal of child neurology

authors： Genizi J,Shamay-Tsoory SG,Shahar E,Yaniv S,Aharon-Perez J

更新日期：2012-02-01 00:00:00

abstract：:A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...

journal_title：Journal of child neurology

authors： Brumback RA

更新日期：2000-07-01 00:00:00