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• W4384924711 abstract "Thrombocytopenia is a common laboratory abnormality encountered in critically ill neonates. The broad differential for thrombocytopenia, and its association with potentially severe neonatal pathology, often presents a diagnostic dilemma prompting extensive evaluation. Hemolysis due to red cell enzymopathies is a rare cause of neonatal thrombocytopenia that is typically brief and self-limiting. Here, we present a case of thrombocytopenia, refractory to transfusion, associated with anemia and hyperbilirubinemia in a neonate with pyruvate kinase deficiency (PKD) arising from compound heterozygous <i>PKLR</i> mutations. The nature of the thrombocytopenia in this patient created considerable diagnostic uncertainty, which was ultimately resolved by whole-exome sequencing. This case emphasizes that inherited red cell defects, such as PKD, are important to consider in cases of neonatal thrombocytopenia." @default.
• W4384924711 created "2023-07-22" @default.
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• W4384924711 date "2023-01-01" @default.
• W4384924711 modified "2023-10-05" @default.
• W4384924711 title "Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency" @default.
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• W4384924711 doi "https://doi.org/10.1159/000531242" @default.
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