Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. May 27, 2019; 11(5): 477-482
Published online May 27, 2019. doi: 10.4254/wjh.v11.i5.477
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report
Catalina Jaramillo, Anna K Ermarth, Angelica R Putnam, Mark Deneau
Catalina Jaramillo, Anna K Ermarth, Mark Deneau, Department of Pediatrics, University of Utah, Salt Lake City, UT 84113, United States
Angelica R Putnam, Department of Pathology, University of Utah, Salt Lake City, UT 84113, United States
Author contributions: Jaramillo C, Ermarth AK and Deneau M were the patient’s gastroenterologists, reviewed the literature and contributed to manuscript drafting; Putnam AR reviewed the patient’s pathology slides, electron microscopy images and contributed to manuscript drafting; All authors were responsible for the revision of the manuscript for important intellectual content and issued final approval for the version to be submitted.
Informed consent statement: Verbal informed consent was obtained from the patient’s mother for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Mark Deneau, MD, MS, Associate Professor, Department of Pediatrics, University of Utah, 81 Mario Capecchi Drive, Salt Lake City, UT 84113, United States.
Telephone: +1-801-2137664
Received: March 11, 2019
Peer-review started: March 12, 2019
First decision: April 10, 2019
Revised: April 12, 2019
Accepted: April 19, 2019
Article in press: April 19, 2019
Published online: May 27, 2019
Core Tip

Core tip: Congenital dyserythropoietic anemia type 1 (commonly known as CDA1) is an autosomal recessive disorder of ineffective erythropoiesis, resulting in increased iron storage. We report a rare case of CDA1 with novel genetic mutations in a newborn presenting with severe anemia, cholestasis and liver failure. This case highlights how liver histology helped confirm the diagnosis.