Uveitis-masquerade syndrome of M. Gaucher. Causal treatment with alglucerase-substitution-therapy

Background Gaucher's disease, a sphingolipidose transmitted by autosomal-re cessive inheritance, is caused by a deficiency of the lysosomal enzyme beta -glucocerebrosidase which is responsible for hydrolysation of glucocerebros ide to ceramid and glucose. Thus glucocerebroside is accumulated in the ret iculoendothelial cells of spleen, liver and bone marrow and pathognomonic G aucher's cells are formed. Case report Tn May 1997 a 42-year-old female patient presented with left-si ded 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 - showi ng hepatoslpenomegaly, anemia, thrombocytopenia and bone lesions - was inic iated and revealed advanced M. Gaucher !Type I) by bone marrow punction. In travenous therapy with alglucerase was administered promptly. After five mo nths of treatment vitreous opacities resolved almost completely and visual acuity increased to 0.7. Conclusions The dramatic improvement occurred under treatment with alglucer ase alter no response to steroid treatment. Thus intermediate uveitis with severe vitritis can be interpreted as uveitis masquerade syndrome with M. G aucher. To the best of our knowledge, this is the first case of M. Gaucher presenting initially as intermediate uveitis and showing successful clinica l improvement during administration of alglucerase.