A pyrimidine 5'-nucleotidase deficiency in an adult is reported. Interestingly, the P5'N-1 deficiency was associated to a polymalformative syndrome and was characterized by a chronic, pancytopenic evolution with concomitant dyserythropoiesis.
Keywords: P5’N-1; polymalformative syndrome; pyrimidine 5’-nucleotidase deficiency.