A Diagnostic Approach for Cerebral Palsy in the Genomic Era
A Diagnostic Approach for Cerebral Palsy in the Genomic Era
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DOI：
10.1007/s12017-014-8331-9
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发表时间：
2014-12-01
影响因子：
3.5
通讯作者：
Fatemi, Ali
中科院分区：
文献类型：
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作者：
Lee, Ryan W.;Poretti, Andrea;Fatemi, Ali
在生命早期表现为运动迟缓/障碍的儿童中，一个持续的挑战是识别具有临床表型的神经遗传性疾病，这些疾病可能被误诊为脑瘫（CP）。为了帮助区分这两组患者，传统的脑磁共振成像在“揭示”许多这些遗传病因方面有很大的好处，并为其他患者的鉴别诊断提供了重要线索。分子遗传学的最新进展，如染色体微阵列和下一代测序，通过更精确地根据分子原因对这些疾病进行分类，进一步彻底改变了对病因学的理解。在本文中，我们提出的神经遗传疾病伪装成脑瘫评估在一个机构的回顾。我们纳入了表现为运动障碍、痉挛和共济失调表型的儿童的代表性病例，目的是强调使用历史和检查的临床工具的历史悠久的方法，以先进的神经成像模式和分子遗传学工具来关注随后的病因学搜索。在治疗、预后和家庭咨询方面，对这些伪装者的准确诊断及其与CP的区别是很重要的。总之，这篇综述继续呼吁对当前和其他有待发现的脑瘫神经遗传伪装者保持警惕，从而优化对患者及其家属的护理。
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.