A 30-YEAR FOLLOW-UP OF AN UNUSUAL CASE OF FANCONIS ANEMIA

A case of Fanconi's Anemia (FA) followed from age 8 to 37 is reported. The patient had no physical abnormalities, except a severe growth impairment. A minimal and irregular treatment was performed, consisting of low dosage cortisone preparations. No androgens or iron chelators were administrated. Blood transfusions were required only at the first hospitalization. Of the three bone marrow lineages, the megakaryoblastic was the most severely and constantly reduced. Cytogenetic analysis showed an increased frequency of spontaneous chromosomal aberrations, but a longitudinal study of these findings revealed a wide variation. The addition of DEB determined a dramatic increase of the chromosomal damage. Spleen hypotrophy was another characteristic, which was demonstrated un vivo both by Tc-99m scintigraphy and by the erythrocyte pits count. Finally, no sings of malignancies occurred in the patients in spite of such a long survival.