Rapola J, Santavuori P, Heiskala H
Children's Hospital, University of Helsinki, Finland.
Am J Med Genet Suppl. 1988;5:99-103. doi: 10.1002/ajmg.1320310613.
Five term placentae from pregnancies at risk of infantile neuronal ceroid-lipofuscinosis (INCL) were studied electron-microscopically to determine if diagnostic cytoplasmic inclusions could be detected in this tissue. In 4 placentae no inclusions were found, and the infants born from these pregnancies have developed normally, the shortest observation time being 15 months. In the fifth placenta numerous cytosomes pathognomonic of INCL were found in the amniotic cells and the endothelium of the capillaries of the chorionic villi. The diagnostic significance of this finding was confirmed by the presence of typical inclusions in the autonomic ganglion cells and other cells in a rectal mucosal biopsy specimen of this male infant at the age of 3 months. Electron microscopic study of chorionic villus biopsy specimens appears to be a promising possibility for prenatal diagnosis of INCL.
对来自有患婴儿神经元蜡样脂褐质沉积症（INCL）风险的妊娠的5个足月胎盘进行了电子显微镜研究，以确定在该组织中是否能检测到诊断性的细胞质包涵体。在4个胎盘中未发现包涵体，这些妊娠所生的婴儿发育正常，最短观察时间为15个月。在第5个胎盘中，在羊膜细胞和绒毛膜绒毛毛细血管内皮中发现了许多INCL特征性的胞质小体。该男婴3个月大时直肠黏膜活检标本中的自主神经节细胞和其他细胞中存在典型包涵体，证实了这一发现的诊断意义。绒毛膜绒毛活检标本的电子显微镜研究似乎是产前诊断INCL的一种有前景的方法。
