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Piropoiquilocitose hereditária no período neonatal - relato de caso

The Hereditary Pyropoikilocytosis is a rare and severe form of Elliptocytosis, characterized by an alteration in the skeleton of the red blood cell membrane. It is an autosomal dominant condition with variable penetration in elliptocytosis, which may be in homozygosity or double heterozygosity in Py...

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Main Authors: Ana Beatriz Teodoro Borges (Author), Magda Regina Silva Moura (Author), Larissa Cristina Nascimento (Author), Adilson Botelho Filho (Author), Caroline Geraldo (Author), Jéssica de Oliveira Franco (Author), Júlia Machado Fernandes (Author), Ana Paula Cicci de Castro Coutinho (Author)
Format: Book
Published: Sociedade Brasileira de Pediatria, 2023-12-01T00:00:00Z.
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Summary:The Hereditary Pyropoikilocytosis is a rare and severe form of Elliptocytosis, characterized by an alteration in the skeleton of the red blood cell membrane. It is an autosomal dominant condition with variable penetration in elliptocytosis, which may be in homozygosity or double heterozygosity in Pyropoikilocytosis, starting from the neonatal period, with clinical manifestations of persistent jaundice. We report here a case of a newborn with persistent jaundice, associated with anemia requiring blood transfusion. The clinical evolution and laboratory findings were conclusive for the diagnosis of Hereditary Pyropoikilocytosis.
Item Description:10.25060/residpediatr-2023.v13n4-721
2236-6814

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