Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report

BACKGROUND: Congenital dyserythropoietic anemia type 1 (CDA1) is an autosomal recessive disorder of ineffective erythropoiesis, resulting in increased iron storage. CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth. There are no prior reports of neonatal liver histologic findings of CDA1. We report a case of CDA1 in a newborn presenting with severe anemia, cholestasis and liver failure, where liver biopsy helped confirm the diagnosis. CASE SUMMARY: A term infant, born via emergency Cesarean section, presented with cholestasis, hepatosplenomegaly, multiorgan failure and severe anemia at birth. A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise. Parents are both healthy and there is no history of consanguinity. On further evaluation, the patient was found to have severe ferritin elevation and pulmonary hypertension. An extensive infectious and metabolic work-up was negative. Salivary gland biopsy was negative for iron deposition. At 2 wk of age, a liver biopsy showed findings consistent with CDA1. A genome rapid sequencing panel revealed novel variants in the CDAN1 gene. The patient’s liver dysfunction, cholestasis and organomegaly resolved, however she remains transfusion-dependent. CONCLUSION: We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.