AN ATYPICAL CASE OF FANCONI-ANEMIA IN ELDERLY SIBS

We describe a 56-year-old woman suspected of Fanconi anemia on the bas is of the following clinical findings: microcephaly, short stature, co ngenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy were absent. The diagnosis wa s confirmed by demonstrating hypersensitivity of her lymphocytes to mi tomycin C (MMC). Cell fusion experiments indicated that the patient be longs to complementation group A. The patient's brother died at the ag e of 50 of heart and renal failure, and anemia. He had clinical findin gs similar to those of his sister, and a horseshoe kidney From 31 year s on he had thrombocytopenia and leucopenia. Both patients had insulin -dependent diabetes mellitus. A chromosomal breakage test carried out elsewhere before his death failed to demonstrate MMC hypersensitivity of his lymphocytes, which led to the investigation of his sister. To o ur knowledge these two cases are the oldest Fanconi anemia patients re ported thus far. (C) 1997 Wiley-Liss, Inc.