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- 2026-09-09 发布于重庆
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Zellwegersyndromeina5-month-oldgirlZellweger综合征(a)T2-weightedMRimageshowsextensiveareasofdiffusehighsignalintensityinthewhitematter.Thegyriarebroad,thesulciareshallow,andthereisincompletebranchingofthesubcorticalwhitematter,findingsthatsuggestamigrationanomalywithpachygyria.
(b)OnaT1-weightedMRimage,thewhitematterabnormalitiesdemonstratelowsignalintensity.
Canavan病海绵状脑白质营养不良(SLD),脑海绵状变性罕见旳常染色体隐性遗传代谢疾病基因位于第17号染色体天门冬氨酰酶缺乏NAA在脑组织内积聚NAA酸血症和酸尿症*N-乙酰天门冬氨酸(NAA)Canavan病Canavan病Canavandiseaseina6-month-old
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