MacLeod P M, Dolman C L, Nickel R E, Chang E, Nag S, Zonana J, Silvey K
Am J Med Genet. 1985 Dec;22(4):781-9. doi: 10.1002/ajmg.1320220413.
We report on the successful prenatal diagnosis of the late infantile "Jansky-Bielschowsky" variant of the neuronal ceroid-lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques. About one-third of a subpopulation of dark, elongated cells contained one or more deposits of curvilinear cytosomes bound by a single unit membrane. These findings were considered typical of the late infantile variant of NCL. After delivery at term, a skin punch biopsy and a buffy coat preparation from the baby were examined and found to have similar characteristic inclusions, which confirmed our prenatal diagnosis.
我们报告了对神经元蜡样脂褐质沉积症（NCL）晚期婴儿型“扬斯基 - 比尔绍夫斯基”变异型的成功产前诊断。由于有患病同胞，在妊娠16周时对胎儿进行了研究。通过传统电子显微镜技术对未培养的羊水细胞进行了研究。在一群深色细长细胞亚群中，约三分之一的细胞含有一个或多个由单个单位膜包裹的曲线形胞质小体沉积物。这些发现被认为是NCL晚期婴儿型变异型的典型表现。足月分娩后，对婴儿进行了皮肤打孔活检和血沉棕黄层制备检查，发现有类似的特征性包涵体，这证实了我们的产前诊断。
