NIEMANN-PICK-LIKE LIVER-DISEASE AND REDUCED CHOLESTEROL ESTERIFICATION IN FIBROBLASTS OF 2 MALE INFANTS

Niemann-Pick disease type C (NPC) presents in about half of the cases in the newborn period with jaundice, hepato-splenomegaly, and a clinic al pattern similar to neonatal hepatitis. The definitive diagnosis can in most instances be made by the appropriate biochemical testing of l ipoprotein stimulated cholesteryl ester synthesis and cholesterol accu mulation in cultured patient fibroblasts. We report two infants who by liver biopsy had classical findings of NPC and a cholesteryl ester sy nthesis level about 50% of the normal lower limit. On the other hand n either of these patients' fibroblasts showed any evidence of low densi ty lipoprotein-induced cholesterol accumulation, precluding the possib ility of a definitive diagnosis. These cases demonstrate the importanc e of the appropriate biochemical testing before final counseling is ca rried out. The possibility of our patients representing allelic or non allelic variants of NPC are discussed.