Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism.

abstract：:Neurocysticercosis is a common parasitic infection of the central nervous system. Intraparenchymal giant cysticercosis has been described in literature, but this is a rare report of a thalamic giant cysticercosis in a young child where the diagnosis could be made on follow-up. A 1½-year-old male child presented with s...

journal_title：Journal of child neurology

authors： Mittal A,Sehgal R,Sureka B,Kumar A,Aggarwal KC

更新日期：2014-11-01 00:00:00

abstract：:Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...

journal_title：Journal of child neurology

authors： Percy AK

更新日期：1988-01-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the rati...

journal_title：Journal of child neurology

authors： Eichler F,Tan WH,Shih VE,Grant PE,Krishnamoorthy K

更新日期：2006-09-01 00:00:00

abstract：:Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...

journal_title：Journal of child neurology

authors： Raafat N,El Safy U,Khater N,Hassan T,Hassan B,Siam A,Youssef A,El Shabrawy A

更新日期：2015-03-01 00:00:00

abstract：:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...

journal_title：Journal of child neurology

authors： Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón A

更新日期：2008-09-01 00:00:00

abstract：:We evaluated the neuropsychological and neurologic outcome of 15 long-term survivors of posterior fossa tumors who were treated between 1970 and 1984 with cranial irradiation (n = 15) and surgery (n = 14). The interval between diagnosis and evaluation ranged from 4 to 20 years (median = 10 years). Earlier age at diagn...

journal_title：Journal of child neurology

authors： Chapman CA,Waber DP,Bernstein JH,Pomeroy SL,LaVally B,Sallan SE,Tarbell N

更新日期：1995-05-01 00:00:00

abstract：:An infant newly diagnosed with propionic acidemic coma was managed successfully with total parenteral nutrition (TPN) and continuous infusion of insulin. The urinary excretion of 3-hydroxypropionic acid was reduced to 3% of the admission value in 4 days, gradually decreasing to 1.5% in 16 days. The treatment did not p...

journal_title：Journal of child neurology

authors： Kalloghlian A,Gleispach H,Ozand PT

更新日期：1992-04-01 00:00:00

abstract：:The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE...

journal_title：Journal of child neurology

authors： Glanzman AM,O'Hagen JM,McDermott MP,Martens WB,Flickinger J,Riley S,Quigley J,Montes J,Dunaway S,Deng L,Chung WK,Tawil R,Darras BT,De Vivo DC,Kaufmann P,Finkel RS,Pediatric Neuromuscular Clinical Research Network for Spin

更新日期：2011-12-01 00:00:00

abstract：:High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopm...

journal_title：Journal of child neurology

authors： MacLennan AH,Lewis S,Moreno-De-Luca A,Fahey M,Leventer RJ,McIntyre S,Ben-Pazi H,Corbett M,Wang X,Baynam G,Fehlings D,Kurian MA,Zhu C,Himmelmann K,Smithers-Sheedy H,Wilson Y,Ocaña CS,van Eyk C,Badawi N,Wintle RF,Ja

更新日期：2019-07-01 00:00:00

abstract：:In this era of changing priorities, regulations, and resources, it is useful to look both back and forward at the building of a division of child neurology in the context of the emergence of child neurology as a nationally and internationally recognized distinct subspecialty of both pediatrics and neurology. Both Pitt...

journal_title：Journal of child neurology

authors： Schor NF,Crumrine PK

更新日期：2003-02-01 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：:A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse ...

journal_title：Journal of child neurology

authors： Spiegel R,Miron D,Yodko H,Lumelsky D,Habib A,Horovitz Y

更新日期：2008-03-01 00:00:00

abstract：:Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the c...

journal_title：Journal of child neurology

authors： Shinnick JE,Schadt K,Strawser C,Wilcox N,Perlman SL,Wilmot GR,Gomez CM,Mathews KD,Yoon G,Zesiewicz T,Hoyle C,Subramony SH,Yiu EM,Delatycki MB,Brocht AF,Farmer JM,Lynch DR

更新日期：2016-08-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 00:00:00

abstract：:We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newb...

journal_title：Journal of child neurology

authors： Pisani F,Copioli C,Turco EC,Sisti L,Cossu G,Seri S

更新日期：2012-10-01 00:00:00

abstract：:Attention-deficit hyperactivity disorder (ADHD) is described as the most common neurobehavioral condition of childhood. We raise the concern that ADHD is not a disease per se but rather a group of symptoms representing a final common behavioral pathway for a gamut of emotional, psychological, and/or learning problems....

journal_title：Journal of child neurology

authors： Furman L

更新日期：2005-12-01 00:00:00

abstract：:Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrated n...

journal_title：Journal of child neurology

authors： Wong BL,Mukkada VA,Markham LW,Cripe LH

更新日期：2005-03-01 00:00:00

abstract：:Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...

journal_title：Journal of child neurology

authors： Nordli DR Jr

更新日期：2002-01-01 00:00:00

abstract：:Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were repor...

journal_title：Journal of child neurology

authors： Hendriksen JG,Vles JS

更新日期：2008-05-01 00:00:00

abstract：:We reported a case of an 8-year-old boy who was presented to the emergency department with left-sided hemiparesis. Computed tomography showed hypodense areas in the territory of the right middle cerebral artery, indicating acute cerebral infarct. Diagnostic evaluation was performed to identify the etiology. On the eig...

journal_title：Journal of child neurology

authors： Kazanci E,Oguz KK,Gurgey A,Topçu M

更新日期：2005-07-01 00:00:00

abstract：:Intracranial tumors are the most common solid tumors in children. The infratentorial compartment will be the primary site for 60% to 70% of these tumors, including astrocytomas, medulloblastomas, and ependymomas. Several technological advancements have increased our knowledge of the cell biology of pediatric brain tum...

journal_title：Journal of child neurology

authors： Nejat F,El Khashab M,Rutka JT

更新日期：2008-10-01 00:00:00

abstract：:The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hama...

journal_title：Journal of child neurology

authors： Scheidenhelm DK,Gutmann DH

更新日期：2004-09-01 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：:The purpose of this study was to determine whether children with epilepsy undergoing valproate therapy and who are otherwise healthy have lower levels of serum and muscle carnitine. A total of 50 patients with epilepsy, 3 to 14 years of age, who were treated solely with valproate and free of abnormal neurologic findin...

journal_title：Journal of child neurology

authors： Anil M,Helvaci M,Ozbal E,Kalenderer O,Anil AB,Dilek M

更新日期：2009-01-01 00:00:00

abstract：:The ethical issues concerning the use of fetal tissue as a source for organ transplantation has focused interest on anencephaly. For reasons that are not entirely clear, the incidence of anencephaly has been declining. As anencephaly is easily recognized and invariably fatal, mortality figures provide an excellent ref...

journal_title：Journal of child neurology

authors： Snyder RD,Fakadej AF,Riggs JE

更新日期：1991-10-01 00:00:00

abstract：:The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...

journal_title：Journal of child neurology

authors： Gray EM,Tomlison KG,Kileny S,Leber SM

更新日期：2019-03-01 00:00:00

abstract：:Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy...

journal_title：Journal of child neurology

authors： Manning KY,Menon RS,Gorter JW,Mesterman R,Campbell C,Switzer L,Fehlings D

更新日期：2016-02-01 00:00:00

abstract：:Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we rep...

journal_title：Journal of child neurology

authors： Unal S,Kalkanoğlu HS,Kocaefe C,Gucer S,Ozen S,Turanli G,Coskun T

更新日期：2005-01-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：:Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...

journal_title：Journal of child neurology

authors： Butrum MW,Williams LS,Golomb MR

更新日期：2003-11-01 00:00:00