Roose Olivia, Gengler Carole, Stoykova Simona, Good Jean-Marc, Tolsa Jean-Francois, Beauport Lydie
Department of Woman-Mother-Child, Clinic of Neonatology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Department of Neonatology, Grand Charleroi Hospital (GHdC), Charleroi, Belgium.
Neonatology. 2025 Jun 5:1-4. doi: 10.1159/000546794.
Congenital dyserythropoietic anemia type 1 (CDA-1) is a rare inherited erythroid disorder. The neonatal clinical presentation is non-specific, making diagnosis challenging and requiring a multidisciplinary approach. To date, no specific placental characteristics have been associated to this condition, highlighting the importance of placental examination and pathologic investigations.
We present the case of a term newborn affected by CDA-1. The patient displayed poor neonatal adaptation with severe anemia, persistent pulmonary arterial hypertension, right ventricular dysfunction, hypotensive shock, cholestasis, hepatitis, severe hyperferritinemia, disseminated intravascular coagulation, thrombocytopenia, acute renal failure, and transient hyperinsulinism. Placentomegaly was noted and histology demonstrated severe megaloblastic erythroblastosis. Genetic research confirmed the diagnosis. The patient required intensive care during the first weeks of life and blood cell transfusions every 5 weeks until 6 months. The outcome was favorable.
CDA-1 is a rare, serious disorder requiring a complex diagnostic approach. Placental analysis provides additional clues for establishing a diagnosis.
1型先天性红细胞生成异常性贫血（CDA-1）是一种罕见的遗传性红系疾病。新生儿期临床表现无特异性，诊断具有挑战性，需要多学科方法。迄今为止，尚无与该病症相关的特定胎盘特征，这凸显了胎盘检查和病理研究的重要性。
我们报告一例足月新生儿患CDA-1的病例。该患者新生儿适应能力差，伴有严重贫血、持续性肺动脉高压、右心室功能障碍、低血压休克、胆汁淤积、肝炎、严重高铁蛋白血症、弥散性血管内凝血、血小板减少、急性肾衰竭和短暂性高胰岛素血症。发现胎盘肿大，组织学显示严重巨幼红细胞生成异常。基因研究确诊。患者在出生后的头几周需要重症监护，每5周进行一次血细胞输血，直至6个月。结果良好。
CDA-1是一种罕见的严重疾病，需要复杂的诊断方法。胎盘分析为确诊提供了额外线索。
