Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.

abstract：:Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...

journal_title：Pediatric neurology

authors： Luan X,Zheng R,Chen B,Yuan Y

更新日期：2010-08-01 00:00:00

abstract：:An adolescent girl with systemic lupus erythematosus presented with selective brainstem dysfunction as the initial sign of central nervous system involvement. Although computed tomography was initially normal, magnetic resonance imaging demonstrated multiple, large brainstem lesions. Serial magnetic resonance imaging,...

journal_title：Pediatric neurology

authors： McAbee GN,Barasch ES

更新日期：1990-05-01 00:00:00

abstract：BACKGROUND:Very-low-birth-weight preterm infants have a higher rate of language impairments compared with children born full term. Early identification of preterm infants at risk for language delay is essential to guide early intervention at the time of optimal neuroplasticity. This study examined near-term structural ...

journal_title：Pediatric neurology

authors： Vassar R,Schadl K,Cahill-Rowley K,Yeom K,Stevenson D,Rose J

更新日期：2020-07-01 00:00:00

abstract：:Visual symptomatology in childhood often presents diagnostic difficulties. Recurrent paroxysmal visual complaints, although typically associated with migraine, may also signal other disorders. We describe a 9-year-old partially sighted male with paroxysmal zoopsias resulting from Charles Bonnet syndrome. This conditio...

journal_title：Pediatric neurology

authors： Mewasingh LD,Kornreich C,Christiaens F,Christophe C,Dan B

更新日期：2002-02-01 00:00:00

abstract：:The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behaviora...

journal_title：Pediatric neurology

authors： Gerber PE,Hamiwka L,Connolly MB,Farrell K

更新日期：2000-03-01 00:00:00

abstract：:The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic...

journal_title：Pediatric neurology

authors： Boles RG,Baldwin EE,Prezant TR

更新日期：2007-02-01 00:00:00

abstract：:Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analy...

journal_title：Pediatric neurology

authors： van der Zwaag B,Verzijl HT,Wichers KH,Beltran-Valero de Bernabe D,Brunner HG,van Bokhoven H,Padberg GW

更新日期：2004-08-01 00:00:00

abstract：:To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...

journal_title：Pediatric neurology

authors： Rose LV,Rose NT,Elder JE,Thorburn DR,Boneh A

更新日期：2008-06-01 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

abstract：:Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, ...

journal_title：Pediatric neurology

authors： Yüksel A,Seven M,Cetincelik U,Yeşil G,Köksal V

更新日期：2006-06-01 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：:According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...

journal_title：Pediatric neurology

authors： Perrone S,Szabó M,Bellieni CV,Longini M,Bangó M,Kelen D,Treszl A,Negro S,Tataranno ML,Buonocore G

更新日期：2010-10-01 00:00:00

abstract：BACKGROUND:Ketamine has recently emerged as a promising therapeutic alternative for abortive migraine therapy, likely secondary to N-methyl-d-aspartate antagonism. Most reports examine adults and the intravenous route. Fewer utilize intranasal administration or pediatric populations. Given the limited evidence for intr...

journal_title：Pediatric neurology

authors： Turner AL,Shandley S,Miller E,Perry MS,Ryals B

更新日期：2020-03-01 00:00:00

abstract：:We report on the case of a 6-year-old boy with epilepsy involving febrile seizures and unprovoked generalized tonic clonic seizures. Genetic testing revealed a novel de novo mutation in the SCN1A gene (C>T 4786, R1596C). The epilepsy phenotype is within the spectrum of generalized epilepsy with febrile seizures plus. ...

journal_title：Pediatric neurology

authors： Dlugos DJ,Ferraro TN,Buono RJ

更新日期：2007-10-01 00:00:00

abstract：:The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables wer...

journal_title：Pediatric neurology

authors： Standridge SM,Holland KD,Horn PS

更新日期：2010-03-01 00:00:00

abstract：:Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this te...

journal_title：Pediatric neurology

authors： Carboni P,Pisani F,Crescenzi A,Villani C

更新日期：2002-05-01 00:00:00

abstract：:Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and gla...

journal_title：Pediatric neurology

authors： Thomas-Sohl KA,Vaslow DF,Maria BL

更新日期：2004-05-01 00:00:00

abstract：:Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical fe...

journal_title：Pediatric neurology

authors： Ozdirim E,Topçu M,Ozön A,Cila A

更新日期：1996-11-01 00:00:00

abstract：:To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...

journal_title：Pediatric neurology

authors： Futagi Y,Suzuki Y,Toribe Y,Nakano H,Morimoto K

更新日期：2005-07-01 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：:Normal development of the central nervous system depends on complex, dynamic mechanisms with multiple spatial and temporal components during gestation. Neurodevelopmental disorders may originate during fetal life from genetic as well as intrauterine and extrauterine factors that affect the fetal-maternal environment. ...

journal_title：Pediatric neurology

authors： Connors SL,Levitt P,Matthews SG,Slotkin TA,Johnston MV,Kinney HC,Johnson WG,Dailey RM,Zimmerman AW

更新日期：2008-03-01 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：:Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Ra...

journal_title：Pediatric neurology

authors： Kara B,Inan N,Bayramgürler D,Altintaş O,Akbulut A

更新日期：2008-10-01 00:00:00

abstract：:The distribution of leukomalacia and glial fibrillary acidic protein (GFAP)-positive glial cells in prenatal- and postnatal-onset leukomalacia were compared and diagnosed histologically in 128 autopsied infants and the different pathogeneses were examined. Prenatal-onset leukomalacia was diagnosed in 12 of 71 still-bi...

journal_title：Pediatric neurology

authors： Iida K,Takashima S,Takeuchi Y,Ohno T,Ueda K

更新日期：1993-01-01 00:00:00

abstract：:Fifteen children, 8 months of age or older, from a neonatal follow-up program underwent magnetic resonance imaging and neurologic, cognitive, and language evaluations. Magnetic resonance imaging findings in all children included increased white matter signal on T2-weighted images and ventricular enlargement adjacent t...

journal_title：Pediatric neurology

authors： Feldman HM,Scher MS,Kemp SS

更新日期：1990-09-01 00:00:00

abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...

journal_title：Pediatric neurology

authors： Yilmaz S,Turhan T,Mutluer S,Aydogdu S

更新日期：2013-02-01 00:00:00

abstract：:Children with Rett syndrome manifest profound impairments in their ability to speak and use their hands, and exhibit a very limited repertoire of abilities to express themselves, to be neuropsychologically tested, and consequently to be understood. This study examined nonverbal cognitive abilities and visual preferenc...

journal_title：Pediatric neurology

authors： Djukic A,McDermott MV

更新日期：2012-04-01 00:00:00

abstract：:Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...

journal_title：Pediatric neurology

authors： Galloway GM,Zamel K

更新日期：2011-03-01 00:00:00

abstract：:Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemic...

journal_title：Pediatric neurology

authors： Castro-Gago M,Blanco-Barca MO,Campos-González Y,Arenas-Barbero J,Pintos-Martínez E,Eirís-Puñal J

更新日期：2006-03-01 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