Abstract
Extract: Prenatal diagnosis of Niemann-Pick disease was confirmed by deficiency of sphingo-myelinase activity and increase in sphingomyelin content in the liver of an affected fetus. Morphologic findings included cellular enlargement with cytoplasmic vacuolization and eccentric nuclei on light microscopy, increased deposition of phos-pholipids demonstrated by lipid histochemistry, and increased acid phosphatase activity by enzyme histochemistry.
When visualized under electron microscopy, lipid cytosomes characteristic of the sphingolipid storage diseases were seen in hepatocytes, splenic cells, the endothelium and pericytes of cerebral vessels as well as in occasional neurons. Sphingolipid accumulation and morphologic findings indicate that biochemical and pathologic manifestations are well advanced in organs destined to produce the earliest clinical signs.
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Schneider, E., Ellis, W., Brady, R. et al. Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus. Pediatr Res 6, 720–729 (1972). https://doi.org/10.1203/00006450-197207000-00005
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DOI: https://doi.org/10.1203/00006450-197207000-00005