Successful treatment of cytomegalovirus polyradiculopathy in a 9-year-old child with congenital human immunodeficiency virus infection.

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：:Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients...

journal_title：Journal of child neurology

authors： Ge L,Li HY,Hai Y,Min L,Xing L,Min J,Shu HX,Mei OY,Hua L

更新日期：2018-11-01 00:00:00

abstract：:Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129...

journal_title：Journal of child neurology

authors： Licis AK,Vallorani A,Gao F,Chen C,Lenox J,Yamada KA,Duntley SP,Gutmann DH

更新日期：2013-11-01 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：:We report the case of a 15-month-old critically ill child with stimulus-induced diffuse voltage attenuation, a previously unreported electroencephalogram pattern. No clinical evidence of seizure activity was associated with these EEG changes. The patient went on to have a full recovery. This case suggests that critica...

journal_title：Journal of child neurology

authors： Losey TE,Ng YT

更新日期：2009-04-01 00:00:00

abstract：:Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe...

journal_title：Journal of child neurology

authors： Gipson TT,Poretti A,Thomas EA,Jenkins KT,Desai S,Johnston MV

更新日期：2015-12-01 00:00:00

abstract：:If behavior results from brain function, some evidence of dysfunction could be expected in children with major behavioral problems. Yet, neurophysiologic studies in these children are frequently normal. We hypothesized a relationship between maturational asymmetry and behavior, given the role of hemispheric imbalance ...

journal_title：Journal of child neurology

authors： Gerez M,Tello A,Serrano C,Ibarra R,Mallet A

更新日期：1999-02-01 00:00:00

abstract：:Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...

journal_title：Journal of child neurology

authors： Schuerholz LJ,Cutting L,Mazzocco MM,Singer HS,Denckla MB

更新日期：1997-10-01 00:00:00

abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

journal_title：Journal of child neurology

authors： McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

更新日期：2015-07-01 00:00:00

abstract：:Tuberous sclerosis complex is a disease that affects many organs, including the central nervous system. Nervous system involvement in the form of hamartomas often results in seizures. In this study we wanted to determine the outcome of epilepsy in tuberous sclerosis complex and determine whether interictal electroence...

journal_title：Journal of child neurology

authors： Husain AM,Foley CM,Legido A,Chandler DA,Miles DK,Grover WD

更新日期：2000-02-01 00:00:00

abstract：:We recruited 128 neonates with hyperbilirubinemia over a 5-year period (1995-2000) to study the short- and long-term effects of hemolytic hyperbilirubinemia on the auditory brainstem pathway and neurodevelopmental status. These children were divided into two groups: (1) a hemolytic group (n = 29; ABO incompatibility [...

journal_title：Journal of child neurology

authors： Chen WX,Wong VC,Wong KY

更新日期：2006-06-01 00:00:00

abstract：OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...

journal_title：Journal of child neurology

authors： Munro K,Keller AE,Lowe H,Ferrara E,Whitney R,Liu CYM,Zak M,Chan V,Kobayashi J,Donner EJ

更新日期：2021-01-04 00:00:00

abstract：AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...

journal_title：Journal of child neurology

authors： Staples A,Thompson NR,Moodley M

更新日期：2020-07-01 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：BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

journal_title：Journal of child neurology

authors： Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

更新日期：2020-04-01 00:00:00

abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...

journal_title：Journal of child neurology

authors： Panayiotopoulos CP

更新日期：1989-01-01 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：:Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...

journal_title：Journal of child neurology

authors： Tavasoli A,Armangue T,Ho CY,Whitehead M,Bornhorst M,Rhee J,Hwang EI,Wells EM,Packer R,van der Knaap MS,Bugiani M,Vanderver A

更新日期：2017-02-01 00:00:00

abstract：:Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitiv...

journal_title：Journal of child neurology

authors： Wakai S,Nikaido K,Nihira H,Kawamoto Y,Hayasaka H

更新日期：2002-01-01 00:00:00

abstract：:Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abno...

journal_title：Journal of child neurology

authors： Goldman AM,Potocki L,Walz K,Lynch JK,Glaze DG,Lupski JR,Noebels JL

更新日期：2006-02-01 00:00:00

abstract：:The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...

journal_title：Journal of child neurology

authors： Afifi AK,Bell WE

更新日期：1993-10-01 00:00:00

abstract：:The prognosis in infants with brain tumors has historically been very poor. This study reviews 16 infants under the age of 12 months with brain tumors who presented to our institution between 1988 and 1999. The aim was to describe the clinical presentation, diagnosis, and management of these patients and to establish ...

journal_title：Journal of child neurology

authors： Young HK,Johnston H

更新日期：2004-06-01 00:00:00

abstract：:To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...

journal_title：Journal of child neurology

authors： Korff C,Laux L,Kelley K,Goldstein J,Koh S,Nordli D Jr

更新日期：2007-02-01 00:00:00

abstract：:Glucose transporter 1 facilitates glucose transport across the blood-brain barrier. By increasing histone acetylation at the SLC2A1 promotor, valproic acid could increase SLC2A1 gene expression. This study was designed to evaluate the effects of valproic acid on glucose transport in astrocyte cultures derived from SLC...

journal_title：Journal of child neurology

authors： Kim SK,Yang H,Pascual JM,De Vivo DC

更新日期：2013-01-01 00:00:00

abstract：:The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...

journal_title：Journal of child neurology

authors： Merlin E,Doré E,Chabrier S,Biard M,Marques-Verdier A,Stéphan JL

更新日期：2012-10-01 00:00:00

abstract：:The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation o...

journal_title：Journal of child neurology

authors： Nunes ML,Coutinho LM,Janisch C,Ehlers JA

更新日期：1999-07-01 00:00:00

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：:Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magne...

journal_title：Journal of child neurology

authors： Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac K

更新日期：2003-06-01 00:00:00

abstract：:We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

journal_title：Journal of child neurology

authors： Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

更新日期：2006-04-01 00:00:00

abstract：:Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, th...

journal_title：Journal of child neurology

authors： Koul R,Alfutaisi A,Hira M

更新日期：2010-02-01 00:00:00