Neonatal Unit, Department of Pediatrics, Fundación Cardiovascular de Colombia, Floridablanca, Santander, Colombia; Organización Latinoamericana para el Fomento de la Investigación en Salud (OLFIS), Bucaramanga, Santander, Colombia; Colombian Collaborative Network on Zika (RECOLZIKA), Pereira, Risaralda, Colombia.
Public Health Department, School of Medicine, Universidad Industrial de Santander, Bucaramanga, Colombia.
Travel Med Infect Dis. 2018 May-Jun;23:14-20. doi: 10.1016/j.tmaid.2018.02.002. Epub 2018 Feb 19.
The multiple, wide and diverse etiologies of congenital microcephaly are complex and multifactorial. Recent advances in genetic testing have improved understanding of novel genetic causes of congenital microcephaly. The recent Zika virus (ZIKV) epidemic in Latin America has highlighted the need for a better understanding of the underlying pathological mechanisms of microcephaly including both infectious and non-infectious causes. The diagnostic approach to microcephaly needs to include potential infectious and genetic etiologies, as well as environmental in-utero exposures such as alcohol, toxins, and medications. Emerging genetic alterations linked to microcephaly include abnormal mitotic microtubule spindle structure and abnormal function of centrosomes. We discuss the diagnostic challenge of congenital microcephaly in the context of understanding the links with ZIKV emergence as a new etiological factor involved in this birth defect.
先天性小头畸形的多种、广泛和多样的病因是复杂的和多因素的。遗传检测的最新进展提高了对先天性小头畸形新的遗传原因的认识。最近拉丁美洲的寨卡病毒(ZIKV)流行突出表明需要更好地了解小头畸形的潜在病理机制,包括感染性和非感染性原因。小头畸形的诊断方法需要包括潜在的感染性和遗传性病因,以及酒精、毒素和药物等宫内环境暴露。与小头畸形相关的新兴遗传改变包括异常有丝分裂微管纺锤体结构和中心体的异常功能。我们讨论了在理解寨卡病毒作为涉及这种出生缺陷的新病因因子的出现的情况下,先天性小头畸形的诊断挑战。