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

Result code in 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>

Alternative codes found

RIV/00216208:11110/19:10397403

Result on the web

<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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Result language

angličtina

Original language name

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

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30214 - Obstetrics and gynaecology

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2019

Confidentiality

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

Name of the periodical

Aktuální gynekologie a porodnictví

ISSN

1803-9588

e-ISSN

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Volume of the periodical

11

Issue of the periodical within the volume

January

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

5

Pages from-to

1-5

UT code for WoS article

000463395800001

EID of the result in the Scopus database

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