Abstract:
:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI and an intracranial arteriovenous malformation (AVM), which has not been previously reported.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Urgelles E,Pascual-Castroviejo I,Roche C,Moneo JL,Martinez MA,Vega Adoi
10.1016/0387-7604(95)00101-8subject
Has Abstractpub_date
1996-01-01 00:00:00pages
78-80issue
1eissn
0387-7604issn
1872-7131pii
038776049500114Xjournal_volume
18pub_type
杂志文章abstract:INTRODUCTION:We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. METHODS:A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 ...
journal_title:Brain & development
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doi:10.1016/j.braindev.2014.06.003
更新日期:2015-03-01 00:00:00
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
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abstract::The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...
journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.07.002
更新日期:2006-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.02.004
更新日期:2011-02-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
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更新日期:1999-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80079-5
更新日期:1983-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.06.009
更新日期:2013-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(02)00228-0
更新日期:2003-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.10.008
更新日期:2009-10-01 00:00:00
abstract::A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00085-6
更新日期:2000-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2009.03.007
更新日期:2009-08-01 00:00:00
abstract::Relative to their numbers, more than twice the number of disabled children fell victim to the Great East Japan Earthquake than did normal people. It was important to find out needs and provide support, as the needs of disabled children vulnerable to the disaster, such as a shortage of diapers of the right size for dis...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2012.09.008
更新日期:2013-03-01 00:00:00
abstract::We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.12.013
更新日期:2018-05-01 00:00:00
abstract::We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.01.009
更新日期:2006-09-01 00:00:00
abstract::A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80154-9
更新日期:1992-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.014
更新日期:2012-08-01 00:00:00
abstract::A research committee supported by the Japanese government conducted a nationwide survey on the epidemiology of acute encephalopathy in Japan using a questionnaire. A total of 983 cases reportedly had acute encephalopathy during the past 3 years, 2007-2010. Among the pathogens of the preceding infection, influenza viru...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.07.012
更新日期:2012-05-01 00:00:00
abstract:INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.07.003
更新日期:2006-04-01 00:00:00
abstract::We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.05.004
更新日期:2010-06-01 00:00:00
abstract::The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00557-8
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.10.006
更新日期:2015-08-01 00:00:00
abstract::Here we describe two patients with 5p- syndrome who suffered from epilepsy characterised by stimulus-induced epileptic spasms manifesting as head nodding. In patient 1, a series of spasms were exclusively triggered by eating, and were associated with diffuse high-voltage slow waves on ictal EEG, particularly presentin...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.002
更新日期:2016-02-01 00:00:00
abstract::Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.03.013
更新日期:2010-03-01 00:00:00
abstract::For the purpose of early detection and intervention in mentally handicapped children, the mental retardation (MR) Monitoring Research Committee in Japan initiated a survey in 1981 to determine the prevalence rate and etiology of MR children who had been born between 1969 and 1974, that's those currently from 7 to 12 y...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80031-5
更新日期:1984-01-01 00:00:00
abstract::Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.04.002
更新日期:2015-02-01 00:00:00