Abstract
Neonates with Down syndrome can present with a haematological disorder called transient abnormal myelopoiesis (TAM). While TAM is usually a self-limiting disease, patients with severe complications such as hydrops fetalis, cardiorespiratory failure and liver fibrosis have been described. Here, we present five consecutive neonates with trisomy 21 and TAM, four of whom were critically ill and were therefore treated with cytosine-arabinoside. All five patients survived. Conclusion:severely affected neonates with Down syndrome and transient abnormal myelopoiesis might benefit from early cytostatic treatment with cytosine-arabinoside.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- Ara-C :
-
cytosine-arabinoside
- DS :
-
Down syndrome
- TAM :
-
transient abnormal myelopoiesis
References
Ahmed M, Sternberg A, Hall G, Thomas A, Smith O, O’Marcaigh A, Wynn R, Stevens R, Addison M, King D, Stewart B, Gibson B, Roberts I, Vyas P (2004) Natural history of GATA 1 mutations in Down syndrome. Blood 103: 2480–2489
Al−Kasim F, Doyle JJ, Massey GV, Weinstein HJ, Zipursky A (2002) Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol 24: 9−13
Avet−Loiseau H, Mechinaud F, Harousseau JL (1995) Clonal hematologic disorders in Down syndrome. J Pediatr Hematol Oncol 17: 19–24
Bonno M, Azuma E, Kawasaki H, Zhang ZL, Komada Y, Hirayama M, Higashiwaga M, Umemoto M, Umemoto M, Koike T, Kato T, Tahara T, Miyazaki H, Sakurai M (1998) Thrombopoietin level is inversely related to blast count, not platelet number, in Down syndrome neonates with transient myeloproliferative disorder. Am J Hematol 58: 267–272
Coulombel L, Derycke M, Villeval JL, Leonard C, Breton−Gorius J, Vial M, Bourgeois P, Tchernia G (1987) Characterization of the blast cell population in two neonates with Down’s syndrome and transient myeloproliferative disorder. Br J Haematol 66: 69–76
Creutzig U, Ritter J, Vormoor J, Eschenbach C, Dickerhoff R, Burdach S, Scheel−Walter HG, Kühl J, Schellong G (1990) Transient myeloproliferation and acute myeloid leukemia in infants with Down’s syndrome. Klin Pädiatr 202: 253–257
Garel D, Mielot F, Gaulard P, Quillard J, Doomergues JP, Tchernia G (1991) Acute megakaryocytic leukaemia (AMKL) with major myelofibrosis in an infant. Diagnosis by liver biopsy and response to treatment. Nouv Rev Fr Hematol 33: 5−8
Hirashima C, Eguchi Y, Kohumara Y, Minatami H, Sato I (2000) Isolated pericardial effusion and transient abnormal myelopoiesis in a fetus with Down’s syndrome. J Obstet Gynaecol Res 26: 303–306
Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A (2003) GATA 1 mutations in transient leukemia and acute megakaryoblastic leukemia in Down syndrome. Blood 101: 4301–4304
Homans AC, Verissimo AM, Vlacha V (1993) Transient abnormal myelopoiesis of infancy associated with trisomy 21. Am J Pediatr Hematol Oncol 15: 392–399
Schwab M, Niemeyer CM, Schwarzer U (1998) Down syndrome, transient myeloproliferative disorder and infantile liver fibrosis. Med Pediatr Oncol 31: 159–165
Tchernia G, Lejeune F, Boccara JF, Denavit MF, Dommergues JP, Bernaudin F (1996) Erythroblastic and/or megakaryoblastic leukemia in Down syndrome: treatment with low-dose arabinosyl cytosine. J Pediatr Hematol Oncol 18: 59–62
Yagihashi N, Watanabe K, Yagihashi S (1995) Transient abnormal myelopoiesis accompanied by hepatic fibrosis in two infants with Down syndrome. J Clin Pathol 48: 973–975
Yoshioka K, Yamamoto S, Moriguchi N, Miyata H, Tsukiyama K, Isokawa S, Horiuchi F, Takemura T (2000) Over-expression of bcl−2 in transient abnormal myelopoiesis associated with Down syndrome. Ann Hematol 79: 319–321
Zipursky A (1996) The treatment of children with acute megakaryoblastic leukaemia who have Down syndrome. Pediatr Hematol Oncol 18: 10–12
Zipursky A, Poon A, Doyle J (1992) Leukemia in Down syndrome: a review. Pediatr Hematol Oncol 9: 139–149
Zipursky A, Brown EJ, Christensen H, Doyle J (1999) Transient myeloproliferative disorder (transient leukemia) and the hematologic manifestations of Down syndrome. Clin Lab Med 19: 157–167
Author information
Authors and Affiliations
Corresponding author
Additional information
An erratum to this article can be found at http://dx.doi.org/10.1007/s00431-004-1617-4
Rights and permissions
About this article
Cite this article
Dormann, S., Krüger, M., Hentschel, R. et al. Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome. Eur J Pediatr 163, 374–377 (2004). https://doi.org/10.1007/s00431-004-1452-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-004-1452-7