[Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]

Gaucher's disease, a sphingolipidose transmitted by autosomal-recessive inheritance, is caused by a deficiency of the lysosomal enzyme beta-glucocerebrosidase which is responsible for hydrolysation of glucocerebroside to ceramid and glucose. Thus glucocerebroside is accumulated in the reticuloendothelial cells of spleen, liver and bone marrow and pathognomonic Gaucher's cells are formed.

In May 1997 a 42-year-old female patient presented with left-sided intermediate uveitis of unknown origin and decreasing visual acuity to perception of hand movements and intact projection of light since September 1996. To exclude a systemic disease a thorough medical examination--showing hepatoslpenomegaly, anemia, thrombocytopenia and bone lesions--was initiated and revealed advanced M. Gaucher (Type I) by bone marrow punction. Intravenous therapy with alglucerase was administered promptly. After five months of treatment vitreous opacities resolved almost completely and visual acuity increased to 0.7.

The dramatic improvement occurred under treatment with alglucerase after no response to steroid treatment. Thus intermediate uveitis with severe vitritis can be interpreted as uveitis masquerade syndrome with M. Gaucher. To the best of our knowledge, this is the first case of M. Gaucher presenting initially as intermediate uveitis and showing successful clinical improvement during administration of alglucerase.