Hemophagocytic syndrome in a patient with Fanconi anemia and VACTERL association

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Published: Nov 21, 2022
DOI: https://doi.org/10.7322/abcshs.2021021.1750
Keywords:
lymphohistiocytosis, hemophagocytic, Fanconi anemia, congenital abnormalities, cytogenetics, chromosome fragility

Main Article Content

Maria Luiza Rocha da Rosa Borges
Centro de Oncohematologia Pediátrica, Hospital Universitário Oswaldo Cruz (HUOC) - Recife (PE), Brazil /Departamento de Genética, Universidade Federal de Pernambuco (UFPE) - Recife (PE), Brazil
Victor Coentro Torreiro de Moraes
Departamento de Pediatria, Hospital Infantil Maria Lucinda (HIML) - Recife (PE), Brazil
João Lucas Cruz Souza
Centro de Oncohematologia Pediátrica, Hospital Universitário Oswaldo Cruz (HUOC) - Recife (PE), Brazil / Laboratório de Imunogenética, Instituto Aggeu Magalhães, Fundação Oswaldo Cruz (Fiocruz) - Recife (PE), Brazil
Edinalva Pereira Leite
Centro de Oncohematologia Pediátrica, Hospital Universitário Oswaldo Cruz (HUOC) - Recife (PE), Brazil
Neide Santos
Departamento de Genética, Universidade Federal de Pernambuco (UFPE) - Recife (PE), Brazil
Terezinha de Jesus Marques-Salles
Centro de Oncohematologia Pediátrica, Hospital Universitário Oswaldo Cruz (HUOC) - Recife (PE), Brazil

Abstract

Introduction: Hemophagocytic syndrome results from hyperactivity of histiocytes and lymphocytes, triggered by infections, mainly viral by cytomegalovirus, Epstein-Barr and herpes. Fanconi anemia (FA) is a rare genetic disease with heterogeneous symptoms common to other diseases such as VACTERL, a disease of unknown etiology in which there are several congenital malformations. The concomitance of Fanconi and VACTERL anemia occurs in 5 to 30% of FA patients. Report: A 14-month-old male infant was admitted to investigate fever, hepatosplenomegaly, and granulopenia. The patient was diagnosed with hemophagocytic syndrome due to hyperferritinemia, bone marrow hemophagocytosis, transaminase elevation, decreased fibrinogen, and cytomegalovirus (CMV) infection confirmed by serology and PCR. The test with mitomycin C (MMC) showed chromosomal fragility. The patient was diagnosed with a VACTERL/FA association for having a clinic and a test compatible with both FA and VACTERL. Conclusion: The VACTERL/FA association is seldom described, but is present in pediatric medical practice. This study presented the main clinical-laboratory aspects and reviewed the main aspects of the concurrence of this pathology.


 


 


 


 

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How to Cite
Borges, M. L. R. da R., Moraes, V. C. T. de, Souza, J. L. C., Leite, E. P., Santos, N., & Marques-Salles, T. de J. (2022). Hemophagocytic syndrome in a patient with Fanconi anemia and VACTERL association. ABCS Health Sciences, 48, e023401. https://doi.org/10.7322/abcshs.2021021.1750
Issue
Vol. 48 (2023)
Section
Reports
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