Mervan BEKDAŞ, Hüseyin ALTUNHAN, Fatih DEMİRCİOĞLU, Erol KISMET, Sevil Bilir GÖKSÜGÜR, Erkan YEŞİLLER, Esma Gökçen SARAÇ

Down Sendromlu bir yenidoğanda geçici myeloproliferatif hastalık

Geçici myeloproliferatif hastalık GMPH , Trizomi 21 Down Sendromu tanısı ile izlenen infantların yaklaşık %10’unda ortaya çıkabilen, periferik kanda myeloid blastların artımı ile karakterize bir durumdur. GMPH, Down Sendromun’nun işaretlerini taşımayan mozaik trizomi 21 hastalarında da görülebilir. GMPH’lı infantlarda ilk 3 yılda akut mega¬karyoblastik lösemi AML-M7 gelişme riski yaklaşık % 30’dur. Biz burada GMPH gelişen Down Sendromlu bir vaka sunduk. Down sendromlu yenidoğanlarda hepasopslenomegali, lökositoz veya trombositopeni ve periferik kan yayma incelemeside myeloblast saptanması durumunda GMPH düşünülmesinin önemine vurgu yapmak istedik

Anahtar Kelimeler:

Down sendromu, yenidoğan, geçici myeloproliferatif hastalık

Transient myeloproliferative disordes in a newborns with Down Syndrome

Transient myeloproliferative disease TMD , defined by circulating nonlymphoid blast in the peripheral blood, occurs in approximately 10% of infants with constitutional trisomy 21 Down syndrome . The TMD phenotype may also occur in newborns who do not have clinical signs of Down syndrome but nonconstitutional trisomy 21 due to mosaicism. Acute mega-karyoblastic leukemia AML-M7 develops in approxima¬tely 30 % of the cases with TMD within the first three years of life. In this case report, a newborn with TMD with Down syndrome is presented. We emphasize the importance of the peripheral blood smear examination in newborns with DS, especially with hepatosplenomegaly, leukocytosis or throm¬bocytopenia and myeloblast of the peripheral smear, in order to diagnose TMD.

Keywords:

Down Syndrome, newborn, transient myeloproliferative disease,

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