Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.

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：: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:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness fr...

journal_title：Pediatric neurology

authors： Rocha J,Taipa R,Melo Pires M,Oliveira J,Santos R,Santos M

更新日期：2014-08-01 00:00:00

abstract：BACKGROUND:Throughout the Middle Ages, most representations of the brain amounted to highly schematized ventricles housed within abstract squiggles of neural tissue. The works by the pre-eminent Flemish anatomist Andreas Vesalius in his De Humani Corporis Fabrica (1543) added considerably more accuracy and detail; stil...

journal_title：Pediatric neurology

authors： Sutherland-Foggio H

更新日期：2017-10-01 00:00:00

abstract：:We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathol...

journal_title：Pediatric neurology

authors： Fadic R,Waclawik AJ,Lewandoski PJ,Lotz BP

更新日期：1997-01-01 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：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Triantafyllou P,Gombakis NP,Vargiami E,Tsantali C,Michelakaki E

更新日期：2003-09-01 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：:The expression of tumor necrosis factor alpha (TNF alpha) was examined in infants with leukomalacia by means of immunohistochemical methods with an antihuman TNF alpha monoclonal antibody. We studied 23 patients with neonatal leukomalacia, classified as having "focal," "widespread," or "diffuse" disease according to t...

journal_title：Pediatric neurology

authors： Deguchi K,Mizuguchi M,Takashima S

更新日期：1996-01-01 00:00:00

abstract：:Despite the many dire pronouncements of the moribund status of the academic triple threat, this species is far from extinct. Maintenance and, indeed, expansion of this pool of individuals requires their identification and support early in their careers, and nurturing and mentoring throughout their careers. Increasing ...

journal_title：Pediatric neurology

authors： Schor NF

更新日期：2003-11-01 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：: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：:Moyamoya disease is an uncommon chronic cerebrovasculopathy, characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches, in association with the development of compensatory collateral vessels at the base of the brain. The etiology is unknown, and was originally c...

journal_title：Pediatric neurology

authors： Currie S,Raghavan A,Batty R,Connolly DJ,Griffiths PD

更新日期：2011-06-01 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：:The object of this study was to investigate the potential association of infections, especially group A hemolytic streptococcal infection, with the abrupt onset/exacerbation of tics or obsessive-compulsive behaviors. A structured clinical interview was used to evaluate 80 consecutive children, 5-17 years of age, with ...

journal_title：Pediatric neurology

authors： Singer HS,Giuliano JD,Zimmerman AM,Walkup JT

更新日期：2000-05-01 00:00:00

abstract：:Two siblings presented with identical features of progressive peripheral paralysis of the lower motor neuron type, pyramidal signs, cranial nerve palsy which included external ocular palsy and deafness, and internal ocular palsy; both died before 1 year of age. Pathologic examination of the central nervous system in b...

journal_title：Pediatric neurology

authors： Hamano K,Tsukamoto H,Yazawa T,Yoshimura M,Takita H

更新日期：1994-06-01 00:00:00

abstract：:This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syn...

journal_title：Pediatric neurology

authors： Chiaretti A,Zorzi G,Di Rocco C,Genovese O,Antonelli A,Piastra M,Polidori G,Aloe L

更新日期：2005-11-01 00:00:00

abstract：OBJECTIVE:We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt a...

journal_title：Pediatric neurology

authors： Holec M,Nagahama Y,Kovach C,Joshi C

更新日期：2016-06-01 00:00:00

abstract：:Syncope affects all age groups and is characterized by a brief sudden loss of consciousness followed by fast recovery. Vasovagal syncope, the most common type, is generally assumed to be due to venous pooling and an abnormal sympathetic response. In approximately 20% of cases, more than one family member is affected. ...

journal_title：Pediatric neurology

authors： Daas A,Mimouni-Bloch A,Rosenthal S,Shuper A

更新日期：2009-01-01 00:00:00

abstract：:Central nervous system manifestations are a common extrapulmonary complication of Mycoplasma pneumoniae infection, of which encephalitis is a well-recognized abnormality in children. In this report the first description of M. pneumoniae infection simultaneously complicated by meningoencephalitis and hemophagocytosis i...

journal_title：Pediatric neurology

authors： Bruch LA,Jefferson RJ,Pike MG,Gould SJ,Squier W

更新日期：2001-07-01 00:00:00

abstract：:A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patie...

journal_title：Pediatric neurology

authors： Nichols SL,Press GA,Schneider JA,Trauner DA

更新日期：1990-11-01 00:00:00

abstract：:We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan fro...

journal_title：Pediatric neurology

authors： Hervey-Jumper SL,Justice D,Vanaman MM,Nelson VS,Yang LJ

更新日期：2011-11-01 00:00:00

abstract：:A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected e...

journal_title：Pediatric neurology

authors： Yamanouchi H,Iwasaki Y,Sugai K,Mukuno K

更新日期：1993-07-01 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：:Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...

journal_title：Pediatric neurology

authors： Dyken PR,DuRant RH,Minden DB,King DW

更新日期：1985-01-01 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：BACKGROUND:Children with perinatal arterial ischemic stroke (PAIS) are at risk for later neurocognitive and behavioral deficits, yet the clinical predictors of these outcomes are understudied. We examined the influence of clinical and infarct characteristics on attention and executive functioning in children following ...

journal_title：Pediatric neurology

authors： Bosenbark DD,Krivitzky L,Ichord R,Vossough A,Bhatia A,Jastrzab LE,Billinghurst L

更新日期：2017-04-01 00:00:00

abstract：:A newborn infant with seizures of unknown etiology that were refractory to treatment with phenobarbitone, phenytoin, midazolam, clonazepam, and vigabatrin is reported. The introduction of the new antiepileptic drug lamotrigine was followed by rapid and sustained control of the seizures. ...

journal_title：Pediatric neurology

authors： Barr PA,Buettiker VE,Antony JH

更新日期：1999-02-01 00:00:00

abstract：:l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...

journal_title：Pediatric neurology

authors： Mete A,Isikay S,Sirikci A,Ozkur A,Bayram M

更新日期：2012-03-01 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