Transient myeloproliferative syndrome in newborn without Down syndrome phenotype: a unique case report

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10397403" target="_blank" >RIV/00064165:_____/19:10397403 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/19:10397403

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=bjhSl23FkO" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=bjhSl23FkO</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Transient myeloproliferative syndrome in newborn without Down syndrome phenotype: a unique case report

Popis výsledku v původním jazyce

We report a unique case of a rare prenatal diagnosis of transient myeloproliferative disorder mimicking congenital leukemia, since child had no features associated with Down syndrome. Leukemic process is usually detected at birth or very shortly thereafter. Diagnosis of congenital leukemia was suspected in third trimester of pregnancy. During ultrasound examination we found hydrops foetus, pericardial effusion, hypoechoic hepatosplenomegaly with &quot;starry night&quot; appearence and polyhydramnios. After delivery by Caesarean section in 36th week of pregnancy, peripheral blood examination revealed leukocytosis and thrombocytopenia. Bone marrow aspiration showed 20% of myeloid blasts typical for megakaryoblastic leukemia/transient myeloproliferative disorders. Trisomy 21 was present only in blasts and GATA1 mutation was also confirmed. Based on an early prenatal suspicion and quick and intensive postnatal intervention patient survived.

Název v anglickém jazyce

Transient myeloproliferative syndrome in newborn without Down syndrome phenotype: a unique case report

Popis výsledku anglicky

We report a unique case of a rare prenatal diagnosis of transient myeloproliferative disorder mimicking congenital leukemia, since child had no features associated with Down syndrome. Leukemic process is usually detected at birth or very shortly thereafter. Diagnosis of congenital leukemia was suspected in third trimester of pregnancy. During ultrasound examination we found hydrops foetus, pericardial effusion, hypoechoic hepatosplenomegaly with &quot;starry night&quot; appearence and polyhydramnios. After delivery by Caesarean section in 36th week of pregnancy, peripheral blood examination revealed leukocytosis and thrombocytopenia. Bone marrow aspiration showed 20% of myeloid blasts typical for megakaryoblastic leukemia/transient myeloproliferative disorders. Trisomy 21 was present only in blasts and GATA1 mutation was also confirmed. Based on an early prenatal suspicion and quick and intensive postnatal intervention patient survived.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

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OECD FORD obor

30214 - Obstetrics and gynaecology

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Aktuální gynekologie a porodnictví

ISSN

1803-9588

e-ISSN

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Svazek periodika

11

Číslo periodika v rámci svazku

January

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

5

Strana od-do

1-5

Kód UT WoS článku

000463395800001

EID výsledku v databázi Scopus

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