Congenital intramedullary tumor with neonatal manifestations.

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular transmission. Although the typical presentation is fatigable weakness with prominent cranial involvement, neonates can lack these hallmark manifestations, and in those with choline acetyltransferase gene mutations, basal...

journal_title：Journal of child neurology

authors： Dilena R,Abicht A,Sergi P,Comi GP,Di Fonzo A,Chidini G,Natacci F,Barbieri S,Lochmüller H

更新日期：2014-03-01 00:00:00

abstract：:Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop di...

journal_title：Journal of child neurology

authors： Bonkowsky JL,Wilkes J,Shyr DC

更新日期：2018-12-01 00:00:00

abstract：:This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kapla...

journal_title：Journal of child neurology

authors： Fox DJ,Kumar A,West NA,DiRienzo AG,James KA,Oleszek J,Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

更新日期：2015-01-01 00:00:00

abstract：:This article reports on an 11-year-old boy who was diagnosed with unilateral auditory neuropathy. After failing his annual medical and school hearing screenings, he was referred for audiologic testing, which identified a profound sensorineural hearing loss in his left ear that has remained stable for the past 3 1/2 ye...

journal_title：Journal of child neurology

authors： Podwall A,Podwall D,Gordon TG,Lamendola P,Gold AP

更新日期：2002-04-01 00:00:00

abstract：:The purpose of this study was to examine the psychiatric characteristics of children with Prader-Willi syndrome in Korea, focusing particularly on their behavioral problems and obsessive-compulsive spectrum symptoms. Fourteen patients with Prader-Willi syndrome, together with their parents, underwent a psychiatric int...

journal_title：Journal of child neurology

authors： Kim JW,Yoo HJ,Cho SC,Hong KE,Kim BN

更新日期：2005-02-01 00:00:00

abstract：:Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...

journal_title：Journal of child neurology

authors： Holden KR,Collins JS,Greene JF,Hinkle S,Nave AF,Portillo JM,Page GP,Stevenson RE,Honduran Neural Tube Defect Project Team.

更新日期：2002-05-01 00:00:00

abstract：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 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：:Neuroblastoma is, at once, the most common and deadly extracranial solid tumor of childhood. Efforts aimed at targeting the neural characteristics of these tumors have taught us much about neural crest cell biology, apoptosis induction in the nervous system, and neurotrophin receptor signaling and intracellular proces...

journal_title：Journal of child neurology

authors： Schor NF

更新日期：2013-06-01 00:00:00

abstract：:After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsycho...

journal_title：Journal of child neurology

authors： Bernaudin F,Verlhac S,Fréard F,Roudot-Thoraval F,Benkerrou M,Thuret I,Mardini R,Vannier JP,Ploix E,Romero M,Cassé-Perrot C,Helly M,Gillard E,Sebag G,Kchouk H,Pracros JP,Finck B,Dacher JN,Ickowicz V,Raybaud C,Ponce

更新日期：2000-05-01 00:00:00

abstract：:We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...

journal_title：Journal of child neurology

authors： Pitter JH,French JH,PeBenito R,Hotson GC

更新日期：1990-07-01 00:00:00

abstract：:Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a recently recognized autoimmune neurologic disorder that presents with severe neuropsychiatric symptoms in previously healthy children. A 4-year-old Lebanese girl presented with new-onset behavioral changes, orofacial dyskinesias, fluctuation in consciousness,...

journal_title：Journal of child neurology

authors： Safadieh L,Dabbagh O

更新日期：2013-10-01 00:00:00

abstract：:A review of the selective posterior rhizotomy procedure for reduction of spasticity in cerebral palsy is presented. The history of the procedure, selection of patients, operative technique, and results are described. The neurophysiologic basis for spasticity is considered, as well as the role of spasticity in the comp...

journal_title：Journal of child neurology

authors： Peacock WJ,Staudt LA

更新日期：1990-07-01 00:00:00

abstract：:The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encomp...

journal_title：Journal of child neurology

authors： Mink JW,Augustine EF,Adams HR,Marshall FJ,Kwon JM

更新日期：2013-09-01 00:00:00

abstract：:In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ven...

journal_title：Journal of child neurology

authors： Vigliano P,Canavese C,Bobba B,Genitori L,Papalia F,Padovan S,Forni M

更新日期：2002-10-01 00:00:00

abstract：:The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...

journal_title：Journal of child neurology

authors： Armstrong DD,Mizrahi EM

更新日期：1998-08-01 00:00:00

abstract：:Baló concentric sclerosis is a unique and rare phenomenon in demyelinating disease. Typically thought of as a subtype of multiple sclerosis, Baló concentric sclerosis is characterized pathologically by striking rings of demyelination alternating with areas of preserved myelination. Its exact prevalence in adult and es...

journal_title：Journal of child neurology

authors： Linnoila J,Chitnis T

更新日期：2014-05-01 00:00:00

abstract：:This study was conducted to determine the occurrence, severity, and risk factors of gingival enlargement in children treated with valproate and other nonvalproate antiepileptic drugs. A cross-sectional study was carried out in which data obtained from 68 epileptic children under treatment were compared with those from...

journal_title：Journal of child neurology

authors： Tan H,Gürbüz T,Dağsuyu IM

更新日期：2004-12-01 00:00:00

abstract：:The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We desc...

journal_title：Journal of child neurology

authors： Ullrich NJ,Riviello JJ Jr,Darras BT,Donner EJ

更新日期：2004-07-01 00:00:00

abstract：:To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = ...

journal_title：Journal of child neurology

authors： van den Engel-Hoek L,Erasmus CE,van Hulst KC,Arvedson JC,de Groot IJ,de Swart BJ

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVE:We present the diagnostic and clinical course of the first multicenter case series of pediatric patients with autoimmune encephalitis associated with N-type voltage-gated calcium channel antibodies. METHODS:Data from 2 university hospitals were retrospectively reviewed and records of 3 patients with autoimmu...

journal_title：Journal of child neurology

authors： Kornitzer J,Taha F,Segal E

更新日期：2019-08-01 00:00:00

abstract：:Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...

journal_title：Journal of child neurology

authors： Manson J,Speed I,Abbott K,Crompton J

更新日期：1988-04-01 00:00:00

abstract：:Cochlear implantation has altered the life-course of thousands of children who have significant hearing loss. Since the United States Food and Drug Administration approved multichannel cochlear implants for children in 1989, growing numbers of parents are choosing this option for their offspring and seeking opportunit...

journal_title：Journal of child neurology

authors： Teagle HF

更新日期：2012-06-01 00:00:00

abstract：:The purpose of this study was to assess the cognitive development of 27 children with nonhemorrhagic neonatal stroke (occurring within the first 28 days of life). The cognitive evaluation consisted of the Bayley Scales of Infant Development, administered at 12 and/or 24 months poststroke. Compared with the normative s...

journal_title：Journal of child neurology

authors： McLinden A,Baird AD,Westmacott R,Anderson PE,deVeber G

更新日期：2007-09-01 00:00:00

abstract：:Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 mumol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness an...

journal_title：Journal of child neurology

authors： Eeg-Olofsson O,al-Zuhair AG,Teebi AS,Daoud AS,Zaki M,Besisso MS,Al-Essa MM

更新日期：1990-07-01 00:00:00

abstract：:This article assessed how Indian providers and mothers value quality of life in pediatric disabilities, hypothesizing lower values with increasing disability, lower values among providers than mothers, and lower values among mothers with versus mothers without a disabled child. We asked 175 participants: "If born tomo...

journal_title：Journal of child neurology

authors： Spiegel E,Jondhale S,Brajkovic I,Nesbit KC,Allen IE,Bhutani V,Kumar P,Partridge JC

更新日期：2018-08-01 00:00:00

abstract：:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinici...

journal_title：Journal of child neurology

authors： Thornton B,Cohen B,Copeland W,Maria BL

更新日期：2014-09-01 00:00:00

abstract：:Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardat...

journal_title：Journal of child neurology

authors： Koy A,Freynhagen R,Mayatepek E,Tibussek D

更新日期：2012-02-01 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