Panmielopatia costituzionale con malformazioni multiple (sindrome di fanconi)

Abstract

SUMMARYThe Author describes two case of Fanconi's syndrome in a 5-year-old boy and in an 11-year-old girl respectively. A diagnosis was made in both of erythroleucothrombocytofenia and medullary aplasia, cutaneous, hyperpigmentation, some shortened and bent fingers, symptoms of haemorragic diathesis and of alterations in body development with radiological signs of intracranic hypertension, high levels of plasmatic proteins with increased globulins. In the boy scleroedema was also found. The tests for haemorragic diathesis hinted in this case, at the presence of anticoagulants in the blood.The statistical study of all the cases published in the literature and an appraisel of the results by the methods of Lenz and Hogben induces the admission that Fanconi's syndrome is a hereditary disease transmitted by a recessive character with multiple effects irregularly expressed.