A small group of cases has come to light during the past fifteen years of a condition originally described as Gaucher's disease and more recently established as a distinct clinical and pathologic entity, variously called Niemann's disease, Niemann-Pick's disease, lipoid cell splenohepatomegaly and lipoid histiocytosis. This condition occurs almost entirely in infants of Jewish parentage and affects females more commonly than males, in the ratio of 6:1. It is characterized by slowly progressing emaciation, enlargement of the spleen and liver and death before the age of 2 years from inanition or an intercurrent respiratory infection. Physical and mental retardation are commonly noted, and there are often characters suggesting mongolism or amaurotic family idiocy. Slight enlargement of the lymph nodes and brownish pigmentation of the skin may be present. There is a slight progressive anemia and moderate leukocytosis.
Pathologically, the spleen is firm with rounded borders, and the cut surface is