Abstract:
BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. CASE PRESENTATION:A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate). Eleven days later, frequent apneic episodes occurred, and head magnetic resonance imaging (MRI) showed bilateral reticular formation lesions in the brain stem, including the medulla oblongata. After the pyridoxal phosphate dose was increased (to 40mg/kg/day), the patient's seizures and apnea resolved, and her MRI findings also improved. Genetic testing revealed that she was homozygous for the 1559delT mutation of TNSALP. CONCLUSIONS:High-dose pyridoxal phosphate is a useful treatment for HPP-induced seizures and might improve reticular formation lesions.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Fukazawa M,Tezuka J,Sasazuki M,Masumoto N,Baba H,Doi T,Tsutsumi Y,Mizuno Y,Mihara F,Nakayama Hdoi
10.1016/j.braindev.2017.07.015subject
Has Abstractpub_date
2018-02-01 00:00:00pages
140-144issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(17)30212-7journal_volume
40pub_type
杂志文章abstract::154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80119-x
更新日期:1986-01-01 00:00:00
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journal_title:Brain & development
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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.2013.01.010
更新日期:2013-09-01 00:00:00
abstract::Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/0387-7604(95)00146-8
更新日期:1996-03-01 00:00:00
abstract::l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are believed to be caused by the toxicity of the accumulation of l-2-hydrox...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.04.012
更新日期:2016-01-01 00:00:00
abstract::Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.09.007
更新日期:2005-08-01 00:00:00
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journal_title:Brain & development
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更新日期:2012-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.03.007
更新日期:2018-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00076-5
更新日期:1999-12-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(94)90064-7
更新日期:1994-05-01 00:00:00
abstract::In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.05.002
更新日期:2008-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.06.002
更新日期:2007-01-01 00:00:00
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更新日期:2020-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.001
更新日期:2017-11-01 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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80118-8
更新日期:1986-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80066-4
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abstract::Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibro...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90013-2
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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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80344-5
更新日期:1992-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.11.007
更新日期:2012-09-01 00:00:00
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pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2010-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00155-9
更新日期:2003-03-01 00:00:00
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更新日期:2020-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80045-3
更新日期:1991-11-01 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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pub_type: 杂志文章
doi:10.1016/j.braindev.2018.01.012
更新日期:2018-06-01 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:2020-01-01 00:00:00