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 PKLR 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.

中文翻译：

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新生儿血小板减少症是新发丙酮酸激酶缺乏症的一个表现。

血小板减少症是危重新生儿常见的实验室异常。血小板减少症的广泛差异及其与潜在的严重新生儿病理学的关联，常常会带来诊断困境，促使进行广泛的评估。红细胞酶病引起的溶血是新生儿血小板减少症的罕见原因，通常是短暂且自限性的。在此，我们介绍一例因复合杂合 PKLR 突变引起的丙酮酸激酶缺陷 (PKD) 新生儿的血小板减少症病例，该病例难以输血，并伴有贫血和高胆红素血症。该患者血小板减少症的性质造成了相当大的诊断不确定性，最终通过全外显子组测序解决了这一问题。该病例强调，在新生儿血小板减少症病例中，必须考虑遗传性红细胞缺陷（例如 PKD）。