Severe neonatal anemia with multi-organ failure, extreme placentomegaly and placental megaloblastic erythroblastosis as features in identifying congenital dyserythropoietic anemia type 1: a case report.

Abstract

Introduction: 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.

Case presentation: 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 five weeks until six months. The outcome was favorable.

Conclusion: CDA-1 is a rare, serious disorder requiring a complex diagnostic approach. Placental analysis provides additional clues for establishing a diagnosis.