IMAGING FEATURES OF TYPE-1 HEREDITARY TYROSINEMIA - A REVIEW OF 30 PATIENTS

Hereditary tyrosinemia type 1, a common genetic disorder in the provin ce of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism , the accumulation of succinylacetone leads to neurologic crises, acut e and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver transplantation has dramatically modified the spontaneous course of this lethal disease. The present paper descr ibes the imaging features of tyrosinemia in 30 patients followed from 1980 to 1995 at Hopital Sainte-Justine, Montreal, Canada.