[Morbus gaucher--a report of two cases].

BACKGROUND

[corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-laden cells, known as Gaucher cells, lead to hepatosplenomegaly, multiorgan dysfunction and sceletal deterioration.

METHODS

We reported a 36-year-old male and a 42-year-old female admitted for the clinical examination due to hepatosplenomegaly. The Clinical diagnosis was provided by a bone marrow examination and demonstration of the characteristic Gaucher cells. Both of the patients had type I Gaucher's disease (a mild form of the disease), wich is distiguished by the lack of central nervous system involvement and striking phenotypic variation. We had not a possibility of testing beta-glucocerebrosidase activity in peripheral leukocytes (a definitive diagnosis of Gaucher's disease). Also, enzyme replacement therapy had not been available in our country.

CONCLUSIONS

Althoungh rare, Gaucher's disease is also present in our country. Both molecular genetic, and the enzyme beta-glucocerebrosidase activity testing in peripheral leukocytes are needed for the definitive diagnosis of this disease.