Leucemias en sindrome down

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Journal of Medical Case Reports
Case report

BioMed Central

Open Access

Down syndrome with microgranular variant of acute promyelocytic leukemia in a child: a case report
Deepali Jain*, Tejinder Singh and Prerna Arora
Address: Department of Pathology, Maulana Azad Medical College, New Delhi, India Email: Deepali Jain* - deepalijain76@gmail.com; Tejinder Singh - tsinghmamc@yahoo.co.in;Prerna Arora - parora@rediffmail.com * Corresponding author

Published: 24 November 2007 Journal of Medical Case Reports 2007, 1:147 doi:10.1186/1752-1947-1-147

Received: 31 August 2007 Accepted: 24 November 2007

This article is available from: http://www.jmedicalcasereports.com/content/1/1/147 © 2007 Jain et al; licensee BioMed Central Ltd. This is an Open Access article distributed underthe terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Background: Acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML. Cases of APL in Down syndrome (DS) have been described in theliterature rarely and it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients. Case presentation: We present a case of a five-year-old female with Down syndrome diagnosed with acute promyelocytic leukemia (APL). She came to our hospital with bleeding manifestations. Blood and bone marrow examination revealed promyelocytes showing a few fine granules and occasional Auerrods. Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made. Conclusion: This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome.

Acute myeloid leukemia (AML) comprises approximately one-fifth of pediatric leukemias [1]; and acutepromyelocytic leukemia (APL) accounts for less than 10% of pediatric AML [2]. Trisomy 21 is associated with a 15-fold increased risk of acute leukemia, with AML occurring three times more frequently than acute lymphoblastic leukemia (ALL) in the first 3 years of life. The most common subtype of AML in Down syndrome (DS) is acute megakaryoblastic leukemia [3]. Though cases of APL in DS have beendescribed in the medical literature rarely, it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients [4]. Herein, we describe a case of a five year old child with DS who presented with bleeding and was diagnosed as APL (M3v).

Case presentation
A five-year-old female child, a known case of DS, presented with a history of gum bleeding, tarry stools and hematemesis of fivedays duration. On physical examination, she was pale and had petechiae, bleeding gums and hepatomegaly. There was an enlarged submandibular lymph node. Her coagulogram studies were unremarkable. Serum fibrinogen levels were within normal limits (2.0 g/l); and tests for fibrin degradation products and Ddimer were also negative. Hemogram findings were as follows: Hb 5 g/dl; WBC 80 × 103/l; andplatelets 12 × 109/l. The peripheral smear demonstrated an increased number of WBCs, neoplastic promyelocytes and occasional blasts (90%) with high nuclear-cytoplasmic ratio and conspicuous nucleoli. These promyelocytes had markedly lobulated and invaginated nuclei. The cytoplasm of the cells contained no clearly recognizable granules but showed occasional Auer rods (Fig 1a). The red cells showed mildPage 1 of 3
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Journal of Medical Case Reports 2007, 1:147


anisocytosis with a few macrocytes. A bone marrow aspirate and biopsy was performed with the following differential: 70% promyelocytes which had a morphology similar to those seen in the peripheral blood; 23% blasts; 5% myelocytes; and 2%...