Jarmasz Jessica S, Basalah Duaa A, Chudley Albert E, Del Bigio Marc R
Department of Human Anatomy and Cell Science, University of Manitoba, Winnipeg, Manitoba, Canada; Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada; Department of Pathology, University of Manitoba, Winnipeg, Manitoba; and Department of Paediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada; and Diagnostic Services Manitoba, Winnipeg, Manitoba, Canada.
J Neuropathol Exp Neurol. 2017 Sep 1;76(9):813-833. doi: 10.1093/jnen/nlx064.
Fetal alcohol spectrum disorder (FASD) is a common neurodevelopmental problem, but neuropathologic descriptions are rare and focused on the extreme abnormalities. We conducted a retrospective survey (1980-2016) of autopsies on 174 individuals with prenatal alcohol exposure or an FASD diagnosis. Epidemiologic details and neuropathologic findings were categorized into 5 age groups. Alcohol exposure was difficult to quantify. When documented, almost all mothers smoked tobacco, many abused other substances, and prenatal care was poor or nonexistent. Placental abnormalities were common (68%) in fetal cases. We identified micrencephaly (brain weight <5th percentile) in 31, neural tube defects in 5, isolated hydrocephalus in 6, corpus callosum defects in 6 (including some with complex anomalies), probable prenatal ischemic lesions in 5 (excluding complications of prematurity), minor subarachnoid heterotopias in 4, holoprosencephaly in 1, lissencephaly in 1, and cardiac anomalies in 26 cases. The brain abnormalities associated with prenatal alcohol exposure are varied; cause-effect relationships cannot be determined. FASD is likely not a monotoxic disorder. The animal experimental literature, which emphasizes controlled exposure to ethanol alone, is therefore inadequate. Prevention must be the main societal goal, however, a clear understanding of the neuropathology is necessary for provision of care to individuals already affected.
胎儿酒精谱系障碍(FASD)是一种常见的神经发育问题,但神经病理学描述很少,且集中在极端异常情况。我们对1980年至2016年期间174例有产前酒精暴露或FASD诊断的个体进行了尸检回顾性调查。流行病学细节和神经病理学发现被分为5个年龄组。酒精暴露难以量化。有记录显示,几乎所有母亲都吸烟,许多人还滥用其他物质,产前护理很差或根本没有。胎儿病例中胎盘异常很常见(68%)。我们发现31例有小脑畸形(脑重量低于第5百分位数),5例有神经管缺陷,6例有孤立性脑积水,6例有胼胝体缺陷(包括一些有复杂异常的病例),5例有可能的产前缺血性病变(不包括早产并发症),4例有轻度蛛网膜下异位,1例有前脑无裂畸形,1例有平滑脑,26例有心脏异常。与产前酒精暴露相关的脑异常多种多样;因果关系无法确定。FASD可能不是一种单毒性疾病。因此,强调仅对乙醇进行受控暴露的动物实验文献是不充分的。预防必须是主要的社会目标,然而,对于为已经受影响的个体提供护理而言,清楚了解神经病理学是必要的。