Sanfilippo A disease in the fetus--comparison with pre- and postnatal cases

One fetus at risk for Sanfilippo A disease was found to be affected by assaying heparan sulfate sulfamidase in cultured amniotic cells, and, after abortion, in cultured skin fibroblasts. Morphologically, cells from placenta, visceral organs and fibroblasts contained large amounts of electron-lucent vacuoles. Limited amounts of inclusions with lamellar profiles were found in the neurons. As no similar lesions were discovered in control cases, their presence in this fetus was considered as significant, indicating an early involvement of the central nervous system. We compared our findings with those of other pre- and postnatal proven cases of Sanfilippo disease (mucopolysaccharidosis III).