Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
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DOI：
10.1093/braincomms/fcaa178
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发表时间：
2020
影响因子：
4.8
通讯作者：
Basal Ganglia MRI Study Group
中科院分区：
文献类型：
--
作者：
Mohammad SS;Angiti RR;Biggin A;Morales-Briceño H;Goetti R;Perez-Dueñas B;Gregory A;Hogarth P;Ng J;Papandreou A;Bhattacharya K;Rahman S;Prelog K;Webster RI;Wassmer E;Hayflick S;Livingston J;Kurian M;Chong WK;Dale RC;Basal Ganglia MRI Study Group
在各种儿童疾病中，MRI上可观察到双侧基底节异常。核磁共振模式识别可以使研究合理化，也可以补充临床和分子发现，特别是确认基因组发现，还可以发现新的基因。在这项国际多中心队列研究中，采用了一种模式识别方法对双侧基底节MRI异常的儿童进行了研究。使用标准的放射学评分表格对34种不同疾病的305名儿童的磁共振扫描进行了评级。此外，对这34例疾病和59例伴有双侧基底节MRI异常的其他疾病的MRI模式进行了文献综述。对研究队列的第一批MRI发现进行的聚类分析将其分为四类：第一类--壳核的T2加权高信号；第二类--苍白球的T2加权高信号或MRI敏感性增加；第三类--弥散受限的苍白球、脑干和小脑的加权高信号；第四类--基底节的加权高信号。这项研究中包括的34个诊断类别在上述四个集群中的一个中显示出优势聚集。线粒体和其他神经代谢障碍分布在第1、2和3组，根据主要影响纹状体的病变(第1组：戊二酸尿1型、丙酸血症、3-甲基谷氨酸尿伴耳聋、脑病和Leigh样综合征以及与SLC19A3相关的硫胺素反应性基底节疾病)、梅毒(第2组：甲基丙二酸血症、Kearns Sayre综合征、丙酮酸脱氢酶复合体缺乏症和琥珀酸半醛脱氢酶缺乏症)或苍白球、脑干和小脑(第3组：Vigabatrin毒性、Krabbe病)。由于SLC39A14和SLC30A10的遗传决定的高锰酸血症，在基底节和其他脑区有明显的T1加权高信号，这是第四簇模式的例证。在这些簇中，发现了独特的基底节MRI模式，在获得性疾病中，例如足月婴儿缺氧缺血性脑病所致的脑性瘫痪，核黄蜂和Vigabatrin中毒，以及罕见的遗传性疾病，例如3-甲基谷氨酸酸尿伴耳聋，脑病和Leigh样综合征，硫胺素反应性基底节疾病，泛酸激酶相关的神经变性，TUB4A和高锰血症。综合研究队列和文献综述的结果，提出了一种诊断算法，以接近MRI上的双侧基底节异常。在整合了临床总结和文献回顾中的MRI结果后，我们开发了一个原型决策电子工具，将使用进一步的队列和临床实践进行测试。分析201例双侧基底节MRI异常的儿童，结合文献回顾，我们提出了一种针对93种不同疾病的逐步治疗方法。MRI表现为壳核、苍白球单独或伴有脑干和小脑改变，基底节T2W和T1W高信号。
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1—T2-weighted hyperintensities in the putamen; Cluster 2—T2-weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3—T2-weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4—T1-weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T1-weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10. Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice. Analysing a cohort of 201 children with bilateral basal ganglia MRI abnormalities in conjunction with a literature review, we propose a stepwise approach for 93 different disorders. Disorders cluster based on MRI changes in the putamen, globus pallidus alone or with brainstem and cerebellar changes and with T2W versus T1W hyperintensities in the basal ganglia.
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