Congenital Leukemia: A Rare Cause of Blueberry Muffin Rash

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Congenital Leukemia: A Rare Cause of Blueberry Muffin Rash

Case Report

Ana Dias Curado

Medical Pediatrics Service, Pediatrics Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal
https://orcid.org/0000-0002-1385-7359

Maria João Palha

Medical Pediatrics Service, Pediatrics Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal
https://orcid.org/0000-0002-3354-4149

Márcia Rodrigues

Genetics Service, Pediatrics Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal
https://orcid.org/0000-0001-6174-2524

André M. Graça

Neonatology Service, Pediatrics Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal
Pediatrics University Clinic, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal
https://orcid.org/0000-0003-2961-0083

Margarida Abrantes

Neonatology Service, Pediatrics Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal
Pediatrics University Clinic, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal
https://orcid.org/0000-0001-8154-0655

DOI: https://doi.org/10.25754/pjp.2022.25296

Abstract

Congenital leukemia is an extremely rare disease occurring within the first 28 days of life. The disease prognosis is poor with high mortality rates. We describe a case of congenital acute monocytic leukemia in a female infant whose disease underwent rapid progression and culminated in death due to multiple organ failure. Our patient presented at birth with leukemia cutis, hepatomegaly, and abnormal neurological examination. She also had evidence of cardiac and respiratory dysfunction.
Laboratory results revealed severe anemia, hyperleukocytosis with monocytic predominance, coagulopathy, and findings consistent with tumor lysis syndrome. The autopsy showed diffuse multiorgan infiltration by acute monocytic leukemia.
Congenital leukemia has distinctive clinical presentations which make it a diagnostic and therapeutic challenge. We aimed to draw attention to this rare disease and its differential diagnosis with other common causes of blueberry muffin rash associated with hepatosplenomegaly and leukocytosis.