Abstract:
:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnosis of 47XXX was made on the basis of a chromosomal study. Physical shortness became increasingly prominent while her weight remained stationary. Psychomotor retardation was noted, and she could never sit alone. A brain CT scan showed cerebral atrophy and calcification of the basal ganglia. Cultured skin fibroblast exhibited significant sensitivity to the ultraviolet light. She died from a chest infection at the age of 7 years and 4 months. Microscopically, the renal glomeruli showed diffuse sclerotic changes with thick capillary basement membranes. A neuropathological examination revealed a very small brain (295 gm), extensive myelin deficiency, gliosis in the white matter, and calcifications in the basal ganglia, and cerebral and cerebellar cortices. The loss of both Purkinje and granular cells was noticed in the cerebellar cortex. This is the first report of a case with the Cockayne syndrome and 47XXX, and the 47XXX in this patient seems to be coincidental.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Hayashi M,Hayakawa K,Suzuki F,Sugita K,Satoh J,Morimatsu Ydoi
10.1016/s0387-7604(12)80282-8keywords:
subject
Has Abstractpub_date
1992-01-01 00:00:00pages
63-7issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(12)80282-8journal_volume
14pub_type
杂志文章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::This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90114-7
更新日期:1994-01-01 00:00:00
abstract::We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9±3.3months, seven boys) were stu...
journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2011-05-01 00:00:00
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journal_title:Brain & development
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更新日期:2020-06-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(98)00052-7
更新日期:1998-12-01 00:00:00
abstract::A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80195-1
更新日期:1990-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00217-0
更新日期:2001-07-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.007
更新日期:2007-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80008-9
更新日期:1982-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.07.006
更新日期:2005-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.07.002
更新日期:2010-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.004
更新日期:2013-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00036-9
更新日期:1998-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.06.011
更新日期:2015-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.07.010
更新日期:2020-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80328-7
更新日期:1990-01-01 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.2008.07.010
更新日期:2009-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.10.001
更新日期:2017-03-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.01.011
更新日期:2017-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00023-2
更新日期:2002-04-01 00:00:00
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journal_title:Brain & development
pub_type:
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更新日期:2021-01-15 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.09.003
更新日期:2006-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.07.007
更新日期:2016-02-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80244-0
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/s0387-7604(02)00102-x
更新日期:2002-12-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.04.004
更新日期:2007-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.01.003
更新日期:2016-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80060-7
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/j.braindev.2014.03.015
更新日期:2015-01-01 00:00:00
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
doi:10.1016/j.braindev.2018.04.008
更新日期:2018-09-01 00:00:00