Magnetization transfer ratio and apparent diffusion coefficient analysis in children with global developmental delay

Margaret H. Pui, Yongdong Wang, Nina Singh
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引用次数: 1

Abstract

Global developmental delay has a significant socioeconomic impact. Early identification of the etiology can obviate further diagnostic testing. Magnetization transfer imaging and diffusion-weighted imaging were performed on 85 children with global developmental delay and 133 normally developed children as control. Conventional MRI was abnormal in all of the 41 children with congenital brain malformation, metabolic and chromosomal disorders, and vitamin B12 deficiency, 85.71% of the seven children with genetic syndrome, and 60% of the five children with history of viral encephalitis. Although magnetization transfer ratios and apparent diffusion coefficients were abnormal in these children, there was no specific pattern to aid the differential diagnosis. Eight of the 13 children with clinical suspicion of cerebral palsy had abnormal MRI findings that may help to reclassify them as having congenital malformation. All of 19 children who were eventually classified as idiopathic global developmental delay had normal MRI. The diagnostic yield of electroencephalogram, metabolic screening, cytogenetic testing, and skin/muscle biopsy was low at 62.50, 24.71, 22.22, and 19.05%, respectively.

整体发育迟缓儿童的磁化传递比和表观扩散系数分析
全球发育迟缓具有重大的社会经济影响。早期发现病因可以避免进一步的诊断检测。对85例整体发育迟缓儿童和133例正常发育儿童进行磁化转移成像和弥散加权成像。41例先天性脑畸形、代谢与染色体疾病、维生素B12缺乏症患儿常规MRI均异常,7例遗传综合征患儿常规MRI异常率为85.71%,5例病毒性脑炎患儿常规MRI异常率为60%。虽然这些儿童的磁化传递比和表观扩散系数异常,但没有特定的模式来帮助鉴别诊断。13名临床怀疑为脑瘫的儿童中有8名有异常的MRI发现,这可能有助于将其重新分类为先天性畸形。所有19名最终被归类为特发性整体发育迟缓的儿童的MRI检查正常。脑电图、代谢筛查、细胞遗传学检测和皮肤/肌肉活检的诊断率较低,分别为62.50%、24.71%、22.22%和19.05%。
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