Rapola J, Aula P
Clin Genet. 1977 Feb;11(2):107-13. doi: 10.1111/j.1399-0004.1977.tb01286.x.
Placentas were studied from three interrupted pregnancies of a mother whose first liveborn child had I-cell disease (mucolipidosis II). I-cell disease of the fetus was shown by investigation of the amniotic fluid, fetal cells and the aborted fetus in two pregnancies, but in the third case placenta was the only available product of conception. In every placenta extensive vacuolization of the syncytiotrophoblastic layer of the chorionic villi and chorionic mesenchymal cells was found. In electron microscopy the inclusions were identical to those of other tissues in I-cell disease. The importance of histological study of placenta in unexplained spontaneous abortions needs to be emphasized, since this may be the only way of detecing new cases of lysosomal storage diseases.
对一位母亲的三次中断妊娠的胎盘进行了研究，其第一个活产婴儿患有I细胞病（粘脂贮积症II型）。在两次妊娠中，通过对羊水、胎儿细胞和流产胎儿的检查证实胎儿患有I细胞病，但在第三个病例中，胎盘是唯一可获得的妊娠产物。在每个胎盘中，均发现绒毛膜绒毛的合体滋养层和绒毛膜间充质细胞有广泛的空泡化。电子显微镜检查显示，这些内含物与I细胞病其他组织中的内含物相同。需要强调胎盘组织学研究在不明原因自然流产中的重要性，因为这可能是检测溶酶体贮积病新病例的唯一方法。
