ABSTRACT
Gaucher disease is the most common of the lysosomal storage diseases. It was first described in 1882 by Gaucher [1], then a French medical student. He identified the pathognomonic cells, which are now known as Gaucher cells, in a 32-year-old woman with massive enlargement of the spleen. The eponym Gaucher disease was first employed by Brill in 1905 [2]. This phenotype, now referred to as type 1, was recognized in the 1950s to be common in Ashkenazi Jews [3,4]. Two other types of disease are known (Table 94.1). The acute neuronopathic early infantile, type 2, disease was described in 1927 [5]. In 1959, a Type 3, subacute neuronopathic disease was described in an isolated population in Northern Sweden [6]; this slowly progressive neurologic disease is referred to as the
Norrbottnian form, after the place of origin of the initial patients. Actually, each of the forms of the disease is panethnic.
