Congenital pancreatic lipase deficiency

Abstract

Two families, each consisting of two children, are recorded because all four children presented a similar clinical picture dominated by oily stools and soiling. The condition is regarded as congenital, and has proved to be persistent. It is very probably attributable to an autosomal recessive gene. Analysis of duodenal juice revealed a deficiency (and in one case absence) of pancreatic lipase. Production of trypsin and amylase also tended to be below normal values. A fifth case is reported in which a similar clinical picture, associated with deficiency of pancreatic lipase, developed as a temporary phenomenon following an attack of chicken-pox.