BACKGROUND The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement ther...

In 1882 Phillipe Gaucher, in his thesis for M.D. of the University of Paris (“ D’epithelioma primitif de la rate: hypertrophie idiopathique de la rate sans leucemie “), described a new type of splenic tumour which he thought was an epithelioma; and in 1904 Brill and his collaborators described similar cases which at autopsy showed collections of cells (Gaucher cells) in the bone marrow. Junghag...

One of the major puzzles in modern human genetics is the fact that patients with the same genotype for a diseasecausing mutation may express very different clinical manifestations. Gaucher disease is one of the more common, clinically important, autosomal recessive disorders. In this issue, Winfield et al. (1997) point out that the problem of phenotypic variation is a serious one in this disord...

Gaucher disease is a sphingolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GC) and the consequent deposition of glucocerebrosides into the cells of the macrophagic system. Among the three types of clinical disease, type 1 leads to hepatosplenomegaly, hypersplenism and skeletal abnormalities including bone pain, osteopenia and fractures. Two pediatric f...