TYPE I PADUA: A NEW VARIANT OF VON WILLEBRAND'S DISEASE

cases. Splenic enlargement was present in four of these five patients. but absent in one patient (Pain et al, 1975) and in the case reported here. One patient with thrombocytopenia experienced a rise in platelet count to normal level after the institution of prednisolone therapy (Pain et al, 1975). The anaemia of another patient improved with prednisolone therapy, but not the thrombocytopenia (Kramer et al. 1965). In our patient. prednisolone therapy was not effective in improving anaemia, or thrombocytopenia. or the abnormal metabolism of porphyria, but PLP achieved complete relief of the last abnormality. CEP is due to a deficiency in the activity of uroporphyrinogen I11 cosynthetase (IJRO-synthase), which is not thought to require pyridoxin as a coenzyme. Nevertheless. this raises the possibility that PLP could influence the behviour of URO-synthase in CEP. To our knowledge. this is the first report of the successful treatment of adult onset CEP with PLP. For the exacerbation of RA inconsistent with the improvement in CEP, we think that a disturbance, other than the defect in the haem biosynthetic pathway, exists in the erythroid stem cells and results in the maturation arrest. Two possible explanations of CEP and MDS can be proposed: The first is the coexistence of two independent disorders. i.e. one an enxymatic defect of porphyrin biosynthesis. and the other a multipotential haematopoietic stem cell disturbance associated with MDS. The second is that MDS is the primary defect and abnormal porphyrin biosynthesis is a secondary phenomenon associated with MDS. The simultaneous appearance Case Reports 6 15