[Blackfan-Diamond disease with ambiguous genitalia]. / Malattia di Blackfan-Diamond con genitali ambigui.

The Authors describe a case of Blackfan-Diamond anemia with ambiguous genitalia and other minor anomalies. They point out the elements of differential diagnosis with other precocious erythroblastopenic conditions and suppose a recessive inheritance of the disease because of family consanguinity in two generations.

[Tyrosinosis. A difficult diagnosis of late infancy]. / Tirosinosi. Una diagnosi difficile nella seconda infanzia.

The Authors report an unusual case of tyrosinosis in which neonatal metabolic screenings were not performed and the diagnosis was made only at 4 years of age. The diet induced an improvement of cirrhosis but did not influence renal tubular damage. The authors stress the diagnostic differential elements against other cirrhogenic metabolic diseases and emphasize the prospectives of liver transplantation.