Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.

abstract：:A patient with X-linked adrenoleukodystrophy exhibited a phenotype of neurofibromatosis 1. He had large and multiple café-au-lait spots, and had elevated serum levels of very long chain fatty acids. The patient's mother and elder sister also had X-linked adrenoleukodystrophy. This case represents novel manifestations ...

journal_title：Pediatric neurology

authors： Yamada H,Izumi T

更新日期：2009-09-01 00:00:00

abstract：:Evaluation of a 7-month-old girl with developmental delay and intractable seizures revealed hemispheric asymmetry and an enlarged right cerebral hemisphere. Because of a history of seizures refractory to medical therapy, she was admitted for right hemispherectomy, but died of complications of surgery. Postmortem brain...

journal_title：Pediatric neurology

authors： Jahan R,Mischel PS,Curran JG,Peacock WJ,Shields DW,Vinters HV

更新日期：1997-11-01 00:00:00

abstract：:A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are simil...

journal_title：Pediatric neurology

authors： Ito M,Okuno T,Asato R,Mutoh K,Nakano S,Kataoka K,Fujii T,Mikawa H,Saida K

更新日期：1989-07-01 00:00:00

abstract：:The relatively high incidence of persistent post-traumatic headache and vertigo in children and adolescents presents a diagnostic and therapeutic challenge. It is often difficult to differentiate between functional complaints generated by psychological trauma or compensation-seeking and symptoms reflecting an organic ...

journal_title：Pediatric neurology

authors： Eviatar L,Bergtraum M,Randel RM

更新日期：1986-03-01 00:00:00

abstract：:This report describes a case of West Nile virus meningoencephalitis in a previously healthy adolescent. Clinical features included fever, altered mental status, and speech difficulty, with subsequent hyperesthesia, ataxia, and motor weakness, all of which eventually resolved completely. Magnetic resonance imaging was ...

journal_title：Pediatric neurology

authors： DeBiasi RL,Parsons JA,Grabert BE

更新日期：2005-09-01 00:00:00

abstract：:Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with uni...

journal_title：Pediatric neurology

authors： Yamazaki S,Ikeno K,Abe T,Tohyama J,Adachi Y

更新日期：2011-09-01 00:00:00

abstract：BACKGROUND:Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced c...

journal_title：Pediatric neurology

authors： Han TH,Kim DY,Park DW,Moon JH

更新日期：2017-01-01 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：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：:The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndrom...

journal_title：Pediatric neurology

authors： Parano E,Pavone L,Fiumara A,Falsaperla R,Trifiletti RR,Dobyns WB

更新日期：1995-09-01 00:00:00

abstract：:This paper reports 26 consecutive cases of cerebral cysticercosis in children, 21 presenting with intraparenchymal mass lesions, two with encephalitic disease, and three with intraventricular (racemous) cysticercosis. The intraparenchymal and encephalitic forms of the disease were benign. Regression of the lesions occ...

journal_title：Pediatric neurology

authors： Mitchell WG,Snodgrass SR

更新日期：1985-05-01 00:00:00

abstract：:This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...

journal_title：Pediatric neurology

authors： Cantarín-Extremera V,Duat-Rodríguez A,González-Gutiérrez-Solana L,López-Marín L,Armangue T

更新日期：2013-05-01 00:00:00

abstract：:We present a 5-year survival profile of 42 children and adolescents between 1 to 21 years of age in an immobile minimally conscious state, chronically dependent on supportive ventilation. Data were collected from a 22-bed pediatric unit dedicated to this unique population, within a 350-bed geriatric hospital, between ...

journal_title：Pediatric neurology

authors： Gale R,Namestnic J

更新日期：2013-04-01 00:00:00

abstract：:This report describes the outcomes of 28 children who had severe head injuries between 13-18 years of age. All were unconscious at least 24 hours and have been followed at least 2 years after injury. At present, their ages range from 18 to 27 years. Their educational achievements, social activities, marital status, fu...

journal_title：Pediatric neurology

authors： Kriel RL,Krach LE,Bergland MM,Panser LA

更新日期：1988-11-01 00:00:00

abstract：:A 4 1/2-year-old girl with acquired immunodeficiency syndrome and prolonged varicella zoster virus skin infection developed multiple ischemic strokes and radiologic and histopathologic evidence of central nervous system vasculitis. Typical features of acquired immunodeficiency syndrome encephalitis were not present an...

journal_title：Pediatric neurology

authors： Frank Y,Lim W,Kahn E,Farmer P,Gorey M,Pahwa S

更新日期：1989-01-01 00:00:00

abstract：BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...

journal_title：Pediatric neurology

authors： Scalais E,Osterheld E,Weitzel C,De Meirleir L,Mataigne F,Martens G,Shaikh TH,Coughlin CR 2nd,Yu HC,Swanson M,Friederich MW,Scharer G,Helbling D,Wendt-Andrae J,Van Hove JLK

更新日期：2017-06-01 00:00:00

abstract：:Planning strategies to encourage students to pursue a career in pediatric neurology requires assessment of their attitudes and career choices. A structured 30-item questionnaire was designed to examine students' attitudes toward pediatric neurology. In the study, 161 final-year medical students (1999-2000), 20-26 year...

journal_title：Pediatric neurology

authors： Jan MM,Fida NM

更新日期：2002-08-01 00:00:00

abstract：:Once-daily ethosuximide was used to treat 10 consecutive children with typical absence seizures. Three patients had gastrointestinal side effects which resolved when the same total daily dose was divided into 2 doses. Two other patients continued to have seizures on ethosuximide, whether given once or twice daily. Fiv...

journal_title：Pediatric neurology

authors： Dooley JM,Camfield PR,Camfield CS,Fraser AD

更新日期：1990-01-01 00:00:00

abstract：:The progression and characteristics of magnetic resonance imaging (MRI) and computed tomographic (CT) findings in 3 patients with infantile Krabbe disease (i.e., globoid cell leukodystrophy or galactocerebroside beta-galactosidase deficiency) are reported. We obtained initial CT and MRI studies when patients demonstra...

journal_title：Pediatric neurology

authors： Sasaki M,Sakuragawa N,Takashima S,Hanaoka S,Arima M

更新日期：1991-07-01 00:00:00

abstract：:The aim of this study was to define the risk ratios of the late-infancy magnetic resonance imaging pattern for long-term outcome in term infants with perinatal asphyxia. We evaluated 65 term infants with perinatal asphyxia and performed magnetic resonance imaging examinations between 4-12 months of age. Magnetic reson...

journal_title：Pediatric neurology

authors： Tekgul H,Serdaroglu G,Yalman O,Tutuncuoglu S

更新日期：2004-07-01 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 morphometric magnetic resonance imaging study was performed, and the results were compared among three groups (group 1, periventricular leukomalacia patients with West syndrome; group 2, periventricular leukomalacia patients without West syndrome; and group 3, control patients) to clarify the characteristics and cau...

journal_title：Pediatric neurology

authors： Ozawa H,Hashimoto T,Endo T,Kato T,Furusho J,Suzuki Y,Takada E,Ogawa Y,Takashima S

更新日期：1998-11-01 00:00:00

abstract：INTRODUCTION:Spinal teratomas are extremely rare; they constitute <0.5% of all spinal cord tumors. These rare tumors have nonspecific manifestations but in most cases are accompanied by neurological deficits. Rupture of a mature teratoma can cause chemical meningitis. PATIENT DESCRIPTION:A 7-year-old boy presented wit...

journal_title：Pediatric neurology

authors： Mpayo LL,Liu XH,Xu M,Wang K,Wang J,Yang L

更新日期：2014-06-01 00:00:00

abstract：:Transient nonketotic hyperglycinemia is characterized by clinical and biochemical findings similar to those seen in classic nonketotic hyperglycinemia. Abnormalities in amino acids are partially or completely resolved in a period ranging from days to months. Almost all patients with the classic form of nonketotic hype...

journal_title：Pediatric neurology

authors： Aliefendioğlu D,Tana Aslan Ay,Coşkun T,Dursun A,Cakmak FN,Kesimer M

更新日期：2003-02-01 00:00:00

abstract：BACKGROUND:Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), ...

journal_title：Pediatric neurology

authors： Sebold AJ,Ahmed AS,Ryan TC,Cohen BA,Jampel HD,Suskauer SJ,Zabel TA,Comi AM,Rybczynski S

更新日期：2020-09-01 00:00:00

abstract：:Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neu...

journal_title：Pediatric neurology

authors： Dolce A,Ben-Zeev B,Naidu S,Kossoff EH

更新日期：2013-05-01 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：:This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic examinations, and brain magn...

journal_title：Pediatric neurology

authors： Cabrera MT,Winn BJ,Porco T,Strominger Z,Barkovich AJ,Hoyt CS,Wakahiro M,Sherr EH

更新日期：2011-09-01 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：BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...

journal_title：Pediatric neurology

authors： Meadows JT Jr,Hayes D Jr

更新日期：2014-07-01 00:00:00