Trombositopeni-Radius Yokluğu Sendromlu Yenidoğanda Hemolitik Anemi ve İnek Sütü İntoleransı Birlikteliği

Abstract

“Trombositopeni-radius yokluğu sendromu” (TAR) her iki başparmak varlığına rağmen bilateral radius yokluğu ve hipomegakaryositik trombositopeni ile karakterizedir. İskelet, gastrointestinal, hematolojik, kardiyak, genital ve üriner anomalileri içerebilir. Trombositopeni doğumdan itibaren olabilir veya genellikle birkaç hafta veya ay içinde gelişebilir. İnek sütü alerjisi %47 oranında görülebilmekte ve trombositopeninin alevlenmesi ile ilişkili olabilmektedir. Çok sayıda hastada bildirilen aneminin nedeni tam olarak bilinmemekle birlikte trombositopenin neden olduğu kan kayıplarına sekonder veya eritrosit ömrünün kısa olmasına bağlı olabilir. Özellikle ilk yılda aneminin hemolitik komponenti daha belirgindir. Trombositopeni ve hemolitik anemisi olan yenidoğanda TAR sendromu düşünülmeli ve bu bebekler inek sütü intoleransı bakımından araştırılmalıdır. Burada hemolitik anemi ve inek sütü intoleransının eşlik ettiği TAR sendromlu bir olgu sunulmuştur.

Keywords

• Hemolitik anemi, İnek sütü intoleransı, TAR sendromu, Trombositopeni

Thrombocytopenia-Absent Radius Syndrome with Hemolytic Anemia and Cow’s Milk Intolerance in a Neonate

Abstract

The thrombocytopenia-absent radii (TAR) syndrome is characterized by bilateral absence of the radii in the presence of both thumbs and thrombocytopenia. Lower limb involvement and cardiac, gastrointestinal, renal, and genital abnormalities may also be seen in the patients with TAR syndrome. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow’s milk intolerance is common and can be associated with exacerbation of thrombocytopenia. Anemia has been described in a large number of patients. It is not clear whether this is entirely related to blood loss from bleeding secondary to thrombocytopenia or whether there may be a shortened RBC lifespan. There appears to be a hemolytic component to the anemia, particularly during the first year of life. TAR syndrome should be kept in mind in a neonate with thrombocytopenia that is associated with hemolytic anemia and cow’s milk intolerance should be examined. Here we report a patient with TAR syndrome associated with hemolytic anemia and cow’s milk allergy

Keywords

• Cow’s milk intolerance, Hemolytic anemia, TAR syndrome, Thrombocytopenia

References

1. Greenwald HM, Sherman I. Congenital essential thrombocytopenia. Am J Dis Child 1929;38:1242.
2. Hall JG. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 1987;24:79–83.
3. Skorka A, Bielicka-Cymermann J, Gieruszczak-Bialek D, Kornis- zewski L. Thrombocytopenia-absent radius (tar) syndrome: A case with agenesis of the corpus callosum, hypoplasia of cerebellar ver- mis and horseshoe kidney. Genet Couns 2005;16:377–82.
4. Azemi M. Thrombocytopenia Absent Radius (TAR) Syndrome. Med Arh 2011;65: 178-81.
5. Letestu R, Vitrat N, Masse A, Le Couedic JP, Lazar V, Rameau P, et al. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood 2000; 95:1633-41.
6. Geddis A. Inherited thrombocytopenia: Congenital amegakaryocy- tic thrombocytopenia and thrombocytopenia with absent radii. Semin Hemato 2006;l43:196–203.
7. Coccia P, Ruggiero A, Mastrangelo S, Attina G, Scalzone M, Pittiruti M, et al. Management of children with thrombocytopenia absent radius syndrome: An institutional experience. J Paediatr Child Health 2012;48:166-9.
8. Ahmad R, Pope S. Association of Mayer-Rokantinsky, Küster- Hauser syndrome with Thrombocytopenia Absent Radii syndrome: A rare presentation. Eur J Obstet Gynecol Reprod Biol 2008;257-8.

9. Klopocki E, Schulze H, Strauß G, Ott C, Hall J, Trotier F, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia– absent radius syndrome. Am J Hum Genet 2007;80:232-40.
10. Tangsong T, Sirichottyakul S, Chanprapaph P. Prenatal diagnosis of thrombocytopenia-absent radius (TAR) syndrome. Ultrasound Obstet Gynecol 2000;15:256-8.