Neuroimaging assessment in Down syndrome: a pictorial review

被引:32
作者
Rodrigues, Marta [1 ]
Nunes, Joana [1 ]
Figueiredo, Sofia [2 ]
de Campos, Antonio Martins [2 ]
Geraldo, Ana Filipa [1 ]
机构
[1] Ctr Hosp Vila Nova de Gaia Espinho, Neuroradiol Dept, R Conceicao Fernandes 1079, Vila Nova De Gaia, Portugal
[2] Ctr Hosp Vila Nova de Gaia Espinho, Neurol Dept, Vila Nova De Gaia, Portugal
关键词
Down syndrome; Brain abnormalities; Head and neck malformations; Spine malformations; Vascular abnormalities; RIGHT SUBCLAVIAN ARTERY; MYOCLONIC EPILEPSY; INTRACRANIAL CALCIFICATION; ALZHEIMERS-DISEASE; MOYAMOYA SYNDROME; CHILDREN; ABNORMALITIES; INDIVIDUALS; ANOMALIES; INSTABILITY;
D O I
10.1186/s13244-019-0729-3
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
Down syndrome (DS), or trisomy 21, is the leading genetic cause of intellectual incapacity worldwide, with a reported incidence of about 1 in 1,000 to 1 in 1,100 live births. Besides the several commonly known physical features characteristic of this syndrome present at birth, DS may additionally affect every organ system. In addition, despite the large number of published papers concerning this syndrome, there is scarce literature focusing specifically in the typical neuroimaging features associated with this condition. The aim of this paper is to review and systematize the distinctive characteristics and abnormalities of the central nervous system, head and neck, and spine present in DS patients that should actively be searched for and evaluated by radiologists and/or neuroradiologists.
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页数:13
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