Leukocytosis in an infant with down syndrome

Doan, Sylvia, Bertrand, Kelsey C., Ma, Jenson C. S., Chauhan, Aman and Warrier, Rajasekharan (2014) Leukocytosis in an infant with down syndrome. Clinical Pediatrics, 53 8: 804-806. doi:10.1177/0009922814527510

Author Doan, Sylvia
Bertrand, Kelsey C.
Ma, Jenson C. S.
Chauhan, Aman
Warrier, Rajasekharan
Title Leukocytosis in an infant with down syndrome
Journal name Clinical Pediatrics   Check publisher's open access policy
ISSN 1938-2707
Publication date 2014-02-20
Year available 2014
Sub-type Article (original research)
DOI 10.1177/0009922814527510
Open Access Status Not yet assessed
Volume 53
Issue 8
Start page 804
End page 806
Total pages 3
Place of publication Thousand Oaks CA, United States
Publisher Sage Publications
Language eng
Subject 2735 Pediatrics, Perinatology, and Child Health
Abstract A newborn female with Down syndrome initially presented to the neonatal intensive care unit with difficulty feeding, failure to thrive, and respiratory difficulty that required oxygen supplementation. She also had atrioventricular canal defect that was diagnosed prenatally. On physical examination, she had hepatosplenomegaly, as well as dysmorphic features typical of Down syndrome phenotype. Hemoglobin was 16.9, platelet count was 276 000, and white blood cells (WBC) count was 62 400 with the smear showing myelocytes, promyelocytes, and myeloblasts. WBC went as high as 80 000 with blast count as high as 44% and platelets as high as 771 000. Subsequent peripheral smear showed blasts, promyelocytes, metamyelocytes, and macrocytosis of red blood cells with normal platelets. The patient’s liver enzymes, alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase were mildly elevated. Abdominal ultrasound revealed mild hepatosplenomegaly, minimal ascites, and gallbladder wall thickening. Further investigation with genetic and molecular biologic workup confirmed trisomy 21 as a somatic mutation and revealed GATA-1 mutation. The patient was negative for JAK2 V617 mutation. On flow cytometry, blasts were positive for CD34, CD117, HLADR, CD4, CD71, and CD9. Markers for megakaryocytic differentiation, CD41 and CD61, were partially expressed. Fluorescence in situ hybridization studies were inconclusive and attempts at obtaining additional genetic markers, specifically RUNX1, were unsuccessful.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

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Sub-type: Article (original research)
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