Kohn G, Livni N, Ornoy A, Sekeles E, Beyth Y, Legum C, Bach G, Cohen M M
J Pediatr. 1977 Jan;90(1):62-6. doi: 10.1016/s0022-3476(77)80765-8.
Mucolipidosis IV, a recently recognized metabolic storage disease, is characterized clinically by corneal opacity in infancy, full facial features, and psychomotor retardation. Electron microscopy of cells from a 2-year-old affected girl revealed multiple cytoplasmic storage bodies. Cultured amniotic fluid cells, in two subsequent pregnancies, demonstrated similar abnormal storage bodies. Electron microscopic examination of various uncultured tissues from one abortus demonstrated abnormal inclusions in the cells of the brain, cornea, conjunctiva, and other epithelial tissues, thus confirming the prenatal diagnosis. This suggests that mucolipidosis IV is an autosomal recessive trait and demonstrates the efficacy of electron microscopy in the prenatal diagnosis of metabolic storage diseases whose biochemical defect is yet unknown.
IV型黏脂贮积症是一种最近才被认识的代谢性贮积病，临床特征为婴儿期角膜混浊、面部特征丰满及精神运动发育迟缓。对一名2岁患病女孩的细胞进行电子显微镜检查发现多个细胞质贮积体。在随后的两次妊娠中，培养的羊水细胞显示出类似的异常贮积体。对一例流产胎儿的各种未培养组织进行电子显微镜检查，发现脑、角膜、结膜及其他上皮组织的细胞中有异常包涵体，从而证实了产前诊断。这表明IV型黏脂贮积症是一种常染色体隐性性状，并证明了电子显微镜在生化缺陷尚不清楚的代谢性贮积病产前诊断中的有效性。
