Vzácná příčina trombocytopenie a poruchy růstu u desetileté dívky

Rare Cause of Thrombocytopenia and Small Stature in a Ten-year-old Girl

Fanconi's anaemia is a very rare disease which belongs among inborn pancytopenias. The same group of diseases includes also congenital dyskeratosis, 5chwachman-Diamond's syndom and amegakaryocytic thrombocytopenia. All these diseases are very frequently associated with different inborn abnormalities (of the skeleton, kidney, heart). Although the haematological manifestations with bone marrow inhibition may be present already in infant age, the majority of clinical manifestations develops ohly during the first decade of life.The authors submit a tase-history of a ten-year-old patient with some clinical symptoms which esere diagnostically classified as Fanconi's anaemia only after several years.

Key words:
Small stature, congenital pancytopenia, thrombocytopenia, chronic hepatitis