ABSTRACT
The disease was first described by Niemann in 1914 [1] in an infant with hepatosplenomegaly who died at 18 months after progressive neurologic deterioration and was found to have large foam cells in the liver and spleen. Pick’s contribution [2,3] was to distinguish this disorder from Gaucher disease on the basis of the appearance of the foam cells. Phenotypic variation became apparent with additional reports [4,5], especially of
adults with hepatosplenomegaly, but no neurologic abnormality in what has come to be called type B [6]. In 1934 the stored lipid was identified by Klenk [7] as sphingomyelin (Figure 95.1). Brady et al. in 1966 [8] identified the deficiency of sphingomyelinase (EC 3.1.4.12) (Figure 95.2) as the cause of Niemann-Pick disease. The deficiency was also readily documented in a type B patient [9].
