Abstract

This report describes morphologic changes in a 19-week saline-aborted fetus with Tay-Sachs disease (TSD, GM 2 gangliosidosis) diagnosed in utero and subsequently confirmed by biochemical and morphological studies of fetal tissues. Typical membranous cytoplasmic bodies (MCB), comparable to those seen in biopsies from infants with TSD, were demonstrated in neurons of spinal ganglia. The ultrastructure of MCB was well preserved despite the saline abortion, the prolonged interval after death and formalin pre-fixation of tissues. Electron microscopy of spinal ganglion neurons in fetuses with lipid storage disease provides the most conclusive morpholocal findings for confirmation of the prenatal diagnosis. Neurons in fetal spinal ganglia are numerous and well differentiated; this facilitates the search for storage material.

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