Abstract:
:Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the frequency of REM bursts were decreased. In the youngest case, symmetrical phasic movements of all four limbs were observed at all sleep stages other than REM sleep. Although movements other than these symmetrical body movements appeared to be normal in this case, the frequency of twitch movements showed an abnormal pattern in each sleep stage in the two older cases. These findings suggest that in the brainstems of younger cases with LNS the REM-non REM generator as well as multiple neurotransmitter systems influencing body movements during sleep remain relatively normal, but become progressively impaired in adult cases. Severe obstructive apnea was observed in one case with hypothyroidism, but there were no respiratory abnormalities in other two cases.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Saito Y,Hanaoka S,Fukumizu M,Morita H,Ogawa T,Takahashi K,Ito M,Hashimoto Tdoi
10.1016/s0387-7604(98)00052-7subject
Has Abstractpub_date
1998-12-01 00:00:00pages
579-85issue
8eissn
0387-7604issn
1872-7131pii
S0387760498000527journal_volume
20pub_type
临床试验,杂志文章abstract:BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2018-09-01 00:00:00
abstract::We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids sh...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(94)00123-f
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abstract::Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00077-6
更新日期:1997-12-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80024-2
更新日期:1983-01-01 00:00:00
abstract::The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80030-9
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80234-8
更新日期:1992-07-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00148-4
更新日期:1996-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:
更新日期:1985-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90003-5
更新日期:1994-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90128-7
更新日期:1994-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80092-x
更新日期:1987-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.06.016
更新日期:2011-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.07.008
更新日期:2011-05-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2009.03.010
更新日期:2010-03-01 00:00:00
abstract::Several studies have demonstrated the slowing effect of corticosteroids on the decline of muscle strength in Duchenne muscular dystrophy (DMD). Deflazacort (DFC) is supposed to have fewer side effects than prednisone (PRED). An ongoing double blind multicenter study is comparing the effects and side effects of deflaza...
journal_title:Brain & development
pub_type: 临床试验,杂志文章,多中心研究
doi:
更新日期:1995-01-01 00:00:00
abstract::We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00217-6
更新日期:2003-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.01.009
更新日期:2013-01-01 00:00:00
abstract::Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...
journal_title:Brain & development
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更新日期:2016-01-01 00:00:00
abstract::Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.09.003
更新日期:2010-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80311-1
更新日期:1990-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2010-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2016-08-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2005-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.09.007
更新日期:2019-02-01 00:00:00
abstract::Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.01.008
更新日期:2007-10-01 00:00:00
abstract::This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.005
更新日期:2012-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.04.002
更新日期:2011-01-01 00:00:00
abstract::Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80076-1
更新日期:1987-01-01 00:00:00
abstract::We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.013
更新日期:2007-06-01 00:00:00