Cytochrome B5 reductase deficiency and mental retardation

Abstract

To rlie Editor-: In a recent issue of the Journal [ I ] , Van Besien and colleagues reported an unusual case of association between relapsing polychondritis (RP) and myelodysplastic syndrome (MDS). This paper inspired us with some comments.As discussed in this paper. such an association between RP and MDS does not seem to be fortuitous. The authors quoted the paper of Michet and colleagues (21, which included six cases of myeloproliferative or myelodysplastic syndrome associated with RP, and the paper of Arlet and colleagues 131. which described two additional cases (one sideroblastic anemia and one refractory anemia with excess of blasts). One can add a recently published paper from Riche and colleagues [li. which included a previous report from Mongin and colleagues (51. This paper described 12 cases (Refractory anemia with excess of blast: two; sideroblastic anemia: one; chronic myeloinonocytic leukemia: one; refractory anemia with cytopenia: eight). We published recently [6J a new case, characterized by the succession of two different heniopathirs (aplaatic anemia then 8 years later chronic inyeloinonocytic leukemia). the latter being associated with the onset of RP displaying typical joint and then cartilage manifestations. During the evolution of RP a transient orchitis was noted. Our patient died from septic shock with massive bleeding of the cavum. related to a blastic tumor, whereas the chronic myelomonocytic leukemia was transformed into myeloinonocytic acute leukemia. In this literature. MDS can precede RP, can occur simultaneously, or can develop during the evolution of RP. No direct relation has to date been established between the two diseases. The paper of Van Besien and colleagues is in this respect very interesting by describing a partial response of RP following chemotherapy given for the underlying hematological diaorder.Dr. Van Besien underlined the occurrence of orchitis in the case he described. Our own case is another example of this complication during RP. One can remark that both were noted within an hematological context. 0 1993 Wiley-Liss, Inc.All this literature strengthens the idea that the association between RP and MDS is not fortuitous. even if it does not always present as a typical paraneoplastic syndrome, since MDS can be diagnosed at different phases of the evolution of RP. The mechanism of this association remains totally unclear. REFERENCES I . 2. . 4. S. 6.Van Besien K . Tricot G . Hoffman R: Relapsing polychonditis. A paraneoplastic 5yndrome associated with myelodysplastic syndromes. Am J Heniatol 4O:JFSO. 19Y2. Michet CJ, McKenna CH. Luthra HS. O'Fallon WM: Relapsing polychondntis: Survival and predictive role of early disease manifestations. Ann Intern Med 104:74-78. 19x6. Arlet P, Pris J. Sallerin F. Vilain C . Laroche M. Le Tallec Y: Polychnndrite atrophiante: Panicularite\ cliniques. Presse Med I X : 157-160. 1989. Riche 0, Jausaaud R, Rouger C. Strady, Remy G, Salagnas V. Kalis B. Deville J: Polychondritc chronique atrophiante: Manifestations visccralcs et pathologies...