Fanconi's anaemia presenting as a myelodysplastic syndrome in association with pseudo Gaucher cells in the bone marrow

ABSTRACT

A 20-year-old Saudi female who first presented to hospital at the age of 14 for the excision of a supernumerary thumb, was incidentally found to have pancytopenia. Clinically her diagnosis was compatible with Fanconi's anaemia, but her bone marrow was seen to be hypercellular, consistent with myelodysplastic syndrome, and contained pseudo-Gaucher cells. Cytogenetic studies, however, confirmed that she had Fanconi's anaemia and although she was initially thought to be transforming to acute non-lymphoblastic leukaemia, she has continued in a stable myelodysplastic state for a documented 2 years