Lee Ryan W, Poretti Andrea, Cohen Julie S, Levey Eric, Gwynn Hilary, Johnston Michael V, Hoon Alexander H, Fatemi Ali
Department of Pediatrics, Shriners Hospitals for Children - Honolulu, University of Hawaii, Honolulu, HI, USA.
Neuromolecular Med. 2014 Dec;16(4):821-44. doi: 10.1007/s12017-014-8331-9. Epub 2014 Oct 4.
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.
对于幼年出现运动发育迟缓/障碍的儿童而言，一项持续存在的挑战是识别具有临床表型的神经遗传性疾病，这些疾病可能会被误诊为脑瘫（CP）。为了帮助区分这两组患者，传统的脑部磁共振成像在“揭示”许多此类遗传病因方面发挥了巨大作用，并为其他疾病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，通过更精确地对这些具有分子病因的疾病进行分类，进一步彻底改变了我们对病因的理解。在本文中，我们对在一家机构评估的伪装成脑瘫的神经遗传性疾病进行了综述。我们纳入了表现为运动障碍型、痉挛型和共济失调型表型的儿童的代表性病例，旨在强调运用病史和体格检查等临床工具这一历史悠久的方法，以便借助先进的神经影像学手段和分子遗传学工具聚焦后续的病因查找。准确诊断这些伪装疾病并将它们与脑瘫区分开来，在治疗、预后及家庭咨询方面都很重要。总之，本综述持续呼吁要对当前以及其他有待发现的伪装成脑瘫的神经遗传性疾病保持警惕，从而优化对患者及其家庭的治疗。
