Abstract

CAMPO LOPEZ, C.; CALABUIG ALBORCH, J. R.; AGUILAR JIMENEZ, J.  and  ALONSO ESTELLES, R.. Skeletal manifestations of Gaucher&’s disease: A report of two cases. An. Med. Interna (Madrid) [online]. 2004, vol.21, n.4, pp.31-36. ISSN 0212-7199.

Gaucher'disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of substrate in the interior of the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3) or not (type 1). It is a multisystemic disease and in the majority of patients there is hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is frequently the most disabling manifestation. We present two cases of Gaucher´s with skeletal manifestations and we review the literature.

Keywords : Gaucher's disease; Bone marrow; Bone; Complications.

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