Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development

Abstract

First‐trimester prenatal diagnosis of Niemann‐Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4‐fold sphingomyelin storage had already taken place in the liver (2.5‐fold in the spleen) of this 12‐gestational week foetus.

Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

“…Pathologic accumulation of SM occurs most prominently within the monocyte/macrophages cell lineage of the reticuloendothelial system, resulting in hepatosplenomegaly, interstitial lung disease, and bone marrow infiltration 8, 19 . This cellular accumulation begins in utero, as demonstrated by the 4-fold and 2.5-fold increases in hepatic and splenic SM, respectively, observed in a 12 week old ASMD fetus 18 .…”