Transient myeloproliferative disorder in newborn with normal karyotype
Journal Title: Postępy Nauk Medycznych - Year 2013, Vol 26, Issue 9
Abstract
Transient myeloproliferative disorder (TMD) occurs in 10-20% of infants with trisomy 21. Only single cases of TMD were described in children with normal phenotype.We present a case of a newborn boy without phenotypic features of Down syndrome, who was admitted to our Clinic with hyperleukocytosis and hepatosplenomegaly.Blood tests revealed a white blood cell (WBC) count of 48 000/μL containing 60% blasts, a red blood cells count and a platelet count were normal. Bone morrow examination revealed normo cellular marrow with hypoplastic erythroid and granulocytic lineages and 48% of blasts. Cytogenetic analysis of the bone marrow cells demonstrated abnormal male karyotype (47,XY,+21). Cytogenetic analysis of peripheral blood showed mosaic karyotype 47,XY,+21/46,XY. Karyotype of skin fibroblasts was normal 46,XY.Follow-up studies showed resolution of hepatomegaly and elevated WBC. Diagnosis of TDM was established. Seven years after TAM he remains under observation with normal blood counts.
Authors and Affiliations
Barbara Sikorska-Fic, Iwona Malinowska, Michał Matysiak, Elżbieta Chmarzyńska-Mróz, Ewa Bocian
Keywords
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