Microcephaly.
Microcephaly.
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DOI：
10.3390/children4060047
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发表时间：
2017-06-09
期刊：
影响因子：
--
通讯作者：
Gigante J
中科院分区：
文献类型：
--
作者：
Hanzlik E;Gigante J
小头畸形的定义是头围比性别和年龄的平均值低两个标准差以上。先天性小头畸形在出生时出现，而出生后小头畸形发生在生命后期。遗传异常、综合征、代谢紊乱、致畸、感染、产前、围产期和产后损伤均可导致先天和后天小头畸形。对小头症患者的评估始于彻底的病史和体格检查。在小头畸形恶化或神经体征或症状恶化的情况下，应重点考虑神经成像、代谢或基因检测。任何进一步的研究和体检都应该以存在指示潜在诊断的迹象或症状为指导，并通常用于某些情况的确证测试。神经成像和磁共振成像(MRI)通常是评估小头畸形儿童的第一个诊断测试。基因测试正变得越来越常见，当病史或体检中没有具体证据表明诊断时，基因测试通常是神经成像之后的下一步。小头畸形症是一种终生疾病，目前尚无治愈方法。对于经历过宫内感染或有染色体或代谢异常的儿童来说，预后通常更差。自2015年以来，寨卡病毒迅速传播，母亲感染该病毒与小头畸形和其他严重的脑部异常有关。随着最近寨卡病毒的出现，小头畸形症在新闻界和科学界变得更加普遍，这是先天性小头畸形症的原因之一。
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.