Beatriz Teixeira, Ana Losa, Andreia Meireles, Ana Lachado, Isabel Couto Guerra, Susana Machado, Lídia Branco, Paulo Paulino, Catarina Lau, Natália Oliva-Teles, Carlos Mendes, Tereza Oliva, Liliana Pinho, Luísa Neiva, Elisa Proença
Blueberry muffin syndrome (BMS) in neonates, characterized by widespread nodular lesions, presents diagnostic challenges due to its diverse etiologies. Hyperleukocytosis, with leukocyte counts exceeding 100,000/μL, is a rare phenomenon associated with severe complications in neonates. Congenital leukemia (CL), a rare diagnosis within the first month of life, is linked to high mortality. This case report presents a unique case of BMS with hyperleukocytosis as the initial presentation of CL. A full-term male newborn, born after an uncomplicated pregnancy, except for Kell isoimmunization, with an Apgar score of 9/10, and an irrelevant family history, showed widespread purple nodules consistent with BMS at birth...
January 2024: Curēus