Vnitr Lek 1998, 44(8):469-471
[Gaucher's disease in a 22-year-old female patient].
- Masarykův onkologický ústav, Brno.
Gaucher's disease is a sphingolipidosis with a genetically conditioned deficiency of cerebroside-beta-glucosidase which can be encountered in everyday practice and not only in paediatrics. The authors submit the case-history of a 22-year-old Ukrainian patient with a fully developed type 1 Gaucher disease, and a brief review of the diagnostic and therapeutic possibilities. Due to the more extensive migration of the population on the territory of the Czech Republic a more frequent occurrence of the disease can be envisaged.
Keywords: Adult; Female; Gaucher Disease, diagnosis, ; Humans
Published: August 1, 1998 Show citation