[Ultrastructural study of the liver in Niemann-Pick disease type C]

The authors report an electron microscopic study of the liver in a case of Niemann-Pick disease type C. The diagnosis was supported by clinical data, moderate increase of phospholipids, total cholesterol, leukocytes and liver sphingomyelin and sphingomyelinase activity. Intrasinusoidal liver foamy histiocytes were filled with lamellar and multivesicular inclusions similar to those observed in sphingomyelinase deficient patients. Hepatocytes contained a few non-specific lamellar inclusions occasionally associated with triglycerides and cholesterol crystals. These results are discussed with reference to the recent biochemical findings supporting the evidence of excessive accumulation of unesterified cholesterol in Niemann-Pick disease type C.