Bierich J R, Majewski F, Michaelis R, Tillner I
Eur J Pediatr. 1976 Feb 4;121(3):155-77. doi: 10.1007/BF00445480.
The symptomatology in 24 patients with the embryo-fetal alcohol syndrome in this study corresponded essentially to the clinical picture described by Lemoine et al., and Jones et al., although we were not able to confirm the maxillary hypoplasia and microphthalmia mentioned in the latter. In addition, we observed in 2 girls a virilization of the genitalia which corresponded to female pseudohermaphroditism. Auxologically a nearly regular pattern of the parameters measured was found. The intra-uterine hypotrophy continues after birth. In particular, the head circumference, reflecting the brain growth, remains low. The cerebral damage leads to oligophrenia with a typical pattern of psychic and motor behaviour. Moderate cases tend to improve. Concerning the pathogenesis, the clinical observations in connexion with recent animal experiments permit the following conclusions. Neither the malnutrition nor the liver damage of the mothers are necessary presuppositions. Ethanol itself appears to play the main teratogenetical rôle. Acetaldehyde, which is the primary metabolite of ethanol, is cytotoxic too. However, the liver of the embryo and the fetus, in consequence of its deficient alcohol dehydrogenase content, is not able to metabolize ethanol.
本研究中24例胚胎-胎儿酒精综合征患者的症状学与勒莫因等人及琼斯等人所描述的临床表现基本相符,尽管我们未能证实后者提到的上颌骨发育不全和小眼畸形。此外,我们在2名女孩中观察到生殖器男性化,这与女性假两性畸形相符。在体格学方面,所测量的参数呈现出近乎规律的模式。宫内发育迟缓在出生后仍持续存在。特别是反映脑生长的头围仍然偏低。脑损伤导致智力发育迟缓,并伴有典型的精神和运动行为模式。中度病例往往会有所改善。关于发病机制,结合近期动物实验的临床观察可得出以下结论。母亲的营养不良和肝脏损伤都不是必要的前提条件。乙醇本身似乎起着主要的致畸作用。乙醛作为乙醇的主要代谢产物,也具有细胞毒性。然而,胚胎和胎儿的肝脏由于其酒精脱氢酶含量不足,无法代谢乙醇。