Gaucher disease is an autosomal recessive, lysosomal
storage disease, characterized by glycosylcerebroside
deposition in reticulo-endothelial cells, due to deficiency
of lysosomal glucocerebrosidase. The disease is the most
common lysosomal storage disorder. Three clinical subtypes
of Gaucher disease have been distinguished, with
different degrees of clinical severity. The most common
is type I (chronic non-neuronopathic form), type II (acute
neuronopathic form) and type III (intermediate between
types I and II)[
1].
Histopathologically in the bone marrow, there is an
accumulation of macrophages engorged with the excess
metabolic product. These macrophages have a distinctive
appearance, with a pale blue cytoplasm in the standard
Wright-Giemsa stain and a delicate “folded tissue paper”
appearance of the cytoplasm. The cells are strongly PAS
positive[2].
For all types of storage disease, analyses of blood
mononuclear cells or fibroblasts for enzyme activity is required for diagnosis. Morphology of bone marrow histiocytes
alone is not sufficient because, in some patients,
these cells are not prominent in the bone marrow and because other bone marrow conditions characterized by
high rates of cell turnover may also exhibit storage disease-
type histiocytes[3].
;){kind=link}