Abstract:
:An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, and mental and developmental retardation are not rare in association with a dicentric, bisatellited supernumerary marker chromosome 15, the present case is novel for a monocentric, monosatellited supernumerary marker chromosome 15 and the additional feature of hypoplastic corpus callosum. The present case provides support for the hypotheses that additional copies of different segments of proximal 15q are related to autism and to malformations of corpus callosum.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NMdoi
10.1016/j.pediatrneurol.2009.02.004subject
Has Abstractpub_date
2009-07-01 00:00:00pages
65-7issue
1eissn
0887-8994issn
1873-5150pii
S0887-8994(09)00078-2journal_volume
41pub_type
杂志文章abstract:OBJECTIVE:To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. STUDY DESIGN:We investigated clinical and diffusion-weighted imaging findings in 32 patients with benign convulsions with m...
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更新日期:2020-08-01 00:00:00
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journal_title:Pediatric neurology
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doi:10.1016/s0887-8994(99)00144-7
更新日期:2000-04-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章,随机对照试验
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更新日期:2011-12-01 00:00:00
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journal_title:Pediatric neurology
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doi:10.1016/j.pediatrneurol.2010.04.015
更新日期:2010-09-01 00:00:00
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journal_title:Pediatric neurology
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doi:10.1016/0887-8994(88)90006-9
更新日期:1988-05-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.02.010
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.09.020
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journal_title:Pediatric neurology
pub_type: 杂志文章,评审
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更新日期:2015-01-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00192-2
更新日期:2000-10-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90044-2
更新日期:1994-03-01 00:00:00
abstract::Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.04.001
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases. There is evidence that the Nav1.1 channel coded by the SCN1A gene is involved in sleep regulation. We evaluated sleep abnormalities in children with Dravet syndrome using nocturnal polysomnogra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.01.017
更新日期:2014-05-01 00:00:00
abstract::Mycoplasma pneumoniae is a common cause of respiratory tract infection. Extrapulmonary manifestations of M. pneumoniae infection are also common. The present case is that of a previously healthy 4-year-old boy who displayed a novel simultaneous onset of both acute rhabdomyolysis and transverse myelitis associated with...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.10.009
更新日期:2009-02-01 00:00:00
abstract::The peripartum period entails the next prenatal interval when novel neuroprotective strategies will be designed and tested. Research development will lead to novel evaluations for maternal-fetal pairs who require inpatient treatment and possible delivery for worsening or acute neurologic problems. Future studies shoul...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.06.018
更新日期:2012-12-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2015.12.004
更新日期:2016-06-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90037-8
更新日期:1986-01-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.04.020
更新日期:2019-09-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.04.014
更新日期:2012-08-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.03.011
更新日期:2010-07-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.01.008
更新日期:2005-07-01 00:00:00
abstract::A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00290-9
更新日期:2001-09-01 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
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.11.001
更新日期:2013-05-01 00:00:00
abstract::The aim of this study was to evaluate the added utility of gadolinium administration in the magnetic resonance imaging evaluation of developmental delay in children less than 2 years of age. A computerized retrospective study identified all brain magnetic resonance imaging examinations using gadolinium performed at ou...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.02.014
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND:The outcome of childhood acute lymphoblastic leukemia has improved because of intensive chemotherapy and supportive care. The frequency of adverse events has also increased, but the data related to acute central nervous system complications during acute lymphoblastic leukemia treatment are sparse. The purpos...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2015.03.006
更新日期:2015-10-01 00:00:00
abstract::Periodic limb movements of sleep are clinically underdiagnosed in children. Polysomnography is the most accurate diagnostic test. There is a paucity of information regarding polysomnography findings in children. We evaluated the prevalence and correlates of pediatric periodic limb movements detected by polysomnography...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.03.008
更新日期:2008-07-01 00:00:00
abstract::The goal of the study was to assess the long-term seizure and neuropsychologic outcomes of patients with tuberous sclerosis and refractory epilepsy who received vagus nerve stimulator implantation. Eleven patients with a follow-up period of at least 12 months were studied retrospectively. The mean age at the time of i...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.03.003
更新日期:2010-07-01 00:00:00
abstract::A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00004-5
更新日期:1996-02-01 00:00:00
abstract::Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this paper, we present four cases of pediatric tumefactive demyelination. Twelve cases of pediatric tumefactive demyelination previously reported in the English literature are also summarized. We describe the neuroimaging charact...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
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更新日期:2002-01-01 00:00:00