Geçici Anormal Miyelopoezis Gelişen Mozaik Down Sendromlu Yenidoğan Olgusu

Yıl 2019, Cilt: 13 Sayı: 6, 496 - 498, 23.12.2019

Ali Ulaş Tuğcu

https://doi.org/10.12956/tchd.562736

Öz

Down Sendromlu (DS; trizomi 21) infantlar, yenidoğan döneminde Transient Anormal Miyelopoez (TAM) olarak da bilinen, geçici myeloproliferatif hastalık gelişimi açısından risk altındadır. Transient Anormal Miyelopoez, DS klasik belirteçlerine sahip olan hastalarda görülebildiği gibi, Down Sendromu klasik belirteçlerine sahip olmayan mozaisizm gösteren hastalarda da ortaya çıkabilir. DS’lu yenidoğanların %4- 10’unda TAM gelişmektedir. TAM’lı bebeklerin çoğu remisyona girer ve herhangi bir tedavi gerekmez. Bu sunumda, kusma ve kanlı dışkılama şikayeti ile başvuran ve ileri değerlendirmeler sonucu; Mozaik Down Sendromu ve TAM tanıları konan yenidoğan olgusuna dikkat çekmek amaçlanmıştır.

Anahtar Kelimeler

Mozaik Down Sendromu, Remisyon

Transient Abnormal Myelopoiesis in a Newborn with Mosaic Down Sydrome

Öz

Infants with Down Syndrome (DS; trisomy 18) are under the risk for development of Transient Abnormal Myelopoiesis (TAM) during newborn period. TAM is mostly seen in classical form of DS but also might be seen in infants with mosaic type of DS. 4-10 % of infants with DS develop TAM. Most of infants with TAM, do not need any treatment and go into remission. Here, we tried to arouse interest on a newborn who has been consulted with compaints of vomiting and bloody stool and diagnosed as DownSyndrome with TAM.

Anahtar Kelimeler

Mosaic Down Sydrome, Remission

Kaynakça

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• 4-Roberts I, Alford K, Hall G, Juban G, Richmond H, Norton A, et al. GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood 2013; 122: 3908–17.