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ISSN 0864-0289 (Print)

2015, Number 1

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Rev Cubana Hematol Inmunol Hemoter 2015; 31 (1)

Congenital acute myeloid leukemia with thymic aplasia

Roque GW, Morán ON, Rodríguez AM, Hernández CA, Serrano SA

Language: Spanish
References: 13
Page: 79-85
PDF size: 221.22 Kb.


ABSTRACT

Congenital leukemia is a rare disease in which a leukemic process is presented at birth or during the first 30 days of life. Less than 1 % of childhood leukemia is diagnosed in newborns. The severe hypoplasia or total thymic aplasia is seen at Di George syndrome which includes several birth defects and immune deficit, mainly of T cells by thymic hypoplasia; nevertheless, severe thymic hypoplasia can be observed in patients without diagnosis of Di George. We report a case of congenital acute myeloid leukemia who presented intense paleness generalized petechiae and ecchymoses as well as hepatosplenomegaly. The diagnosis was confirmed by the presence of blasts in peripheral blood smear and bone marrow aspirate. Immunophenotyping was performed and contributed to a definitive diagnosis. The autopsy confirmed the thymic aplasia.


REFERENCES

  1. van der Linden MH, Creemers S, Pieters R. Diagnosis and management of neonatal leukaemia. Seminars in Fetal & Neonatal Medicine 2012;17(4):192-5.

  2. Vormoor J. Leukaemia and cancer in neonatos. Seminars in Fetal & Neonatal Medicine. 2012;17:183-4.

  3. González García NE, Broche Cardó R, Trelles Porro L, Cubero Rego MA, Morales Mesa E, Arencibia Núñez A, et al. Leucemia congénita aguda. Rev Cubana Pediatr. 2011 Jun;83(2):193-9.

  4. Bresters D, Reus AC, Veerman AJ, van Wering ER, van der Does-van den Berg A, Kaspers GJ. Congenital leukaemia: the Dutch experience and review of the literature. Br J Haematol 2002;117:513-24.

  5. Isaacs Jr H. Fetal and neonatal leukemia. J Pediatr Hematol Oncol. 2003;25:348-61.

  6. de la Guardia Peña O, Ustariz Garcia C, Garcia García MA, Morera Barrios LM, Chang Monteagudo A, Lavaut Sánchez K. Hipoplasia tímica en un niño con fibrosis quística. Rev Cub Hematol, Inmunol, Hemoter. 2014;30(1):74-80.

  7. Lindsay E. Chromosomal microdeletions: dissecting the 22q11 syndrome. Nat Rev Genet. 2001 Nov;2(11):858-68.

  8. Pine SR, Guo Q, Yin C, Jayabose S, Druschel CM, Sandoval C. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood. 2007;110:2128-31.

  9. Wei MC, Dahl GV, Weinstein HJ. Acute myeloid leukemia in children. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Anastasi J eds. Hematology: basic principles and practice. 6 th ed. Philadelphia: Saunders Elsevier. 2013. p. 913-25.

  10. Bas Suarez MP, Lopez BJ, Santana RC, Gresa MM, Diaz PR, Lodos Rojas JC. Congenital acute lymphoblastic leukemia: a two-case report and a review of the literature. Eur J Pediatr. 2011;170:531-4.

  11. Benmiloud S, Elhaddou G, Belghiti ZA, Hida M, Bouharrou A. Blueberry muffin syndrome. Pan Afr Med J. 2012;13:23.

  12. Nanda A, El-Kamel MF, Al Oneizi EM, Al-Ajmi M, Al Enzei EM, Madda JP. Congenital papulonodular eruption: presenting sign of congenital leukaemia cutis. Clin Exp Dermatol. 2012;37(5):509-11.

  13. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999 Dec;93(3):190-7.




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