Hanzlik Emily, Gigante Joseph
Department of Pediatrics, Vanderbilt University School of Medicine, 8161 Doctors' Office Tower, 2200 Children's Way, Nashville, TN 37232, USA.
Children (Basel). 2017 Jun 9;4(6):47. doi: 10.3390/children4060047.
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life. Genetic abnormalities, syndromes, metabolic disorders, teratogens, infections, prenatal, perinatal, and postnatal injuries can cause both congenital and postnatal microcephaly. Evaluation of patients with microcephaly begins with a thorough history and physical examination. In cases of worsening microcephaly or neurological signs or symptoms, neuroimaging, metabolic, or genetic testing should be strongly considered. Any further studies and workup should be directed by the presence of signs or symptoms pointing to an underlying diagnosis and are usually used as confirmatory testing for certain conditions. Neuroimaging with magnetic resonance imaging (MRI) is often the first diagnostic test in evaluating children with microcephaly. Genetic testing is becoming more common and is often the next step following neuroimaging when there is no specific evidence in the history or physical examination suggesting a diagnosis. Microcephaly is a lifelong condition with no known cure. The prognosis is usually worse for children who experienced an intrauterine infection or have a chromosomal or metabolic abnormality. Zika virus has rapidly spread since 2015, and maternal infection with this virus is associated with microcephaly and other serious brain abnormalities. Microcephaly has become much more prevalent in the news and scientific community with the recent emergence of Zika virus as a cause of congenital microcephaly.
小头畸形被定义为头围比同性别、同年龄人群的平均头围低两个标准差以上。先天性小头畸形在出生时即存在,而产后小头畸形则在生命后期出现。基因异常、综合征、代谢紊乱、致畸物、感染、产前、围产期及产后损伤均可导致先天性和产后小头畸形。对小头畸形患者的评估始于全面的病史采集和体格检查。对于小头畸形恶化或出现神经体征或症状的病例,应强烈考虑进行神经影像学、代谢或基因检测。任何进一步的检查和诊断工作应根据指向潜在诊断的体征或症状来指导,通常用作某些疾病的确诊检测。磁共振成像(MRI)神经影像学检查通常是评估小头畸形患儿的首要诊断性检查。基因检测越来越普遍,当病史或体格检查中没有提示诊断的具体证据时,基因检测通常是神经影像学检查后的下一步。小头畸形是一种无法治愈的终身疾病。对于经历过宫内感染或患有染色体或代谢异常的儿童,预后通常更差。自2015年以来,寨卡病毒迅速传播,孕妇感染该病毒与小头畸形及其他严重脑异常有关。随着寨卡病毒作为先天性小头畸形病因的近期出现,小头畸形在新闻和科学界变得更加普遍。