Jaramillo C, Ermarth AK, Putnam AR, Deneau M. Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report. World J Hepatol 2019; 11(5): 477-482 [PMID: 31183007 DOI: 10.4254/wjh.v11.i5.477]
Corresponding Author of This Article
Mark Deneau, MD, MS, Associate Professor, Department of Pediatrics, University of Utah, 81 Mario Capecchi Drive, Salt Lake City, UT 84113, United States. mark.deneau@hsc.utah.edu
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which 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: http://creativecommons.org/licenses/by-nc/4.0/
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: http://creativecommons.org/licenses/by-nc/4.0/
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. mark.deneau@hsc.utah.edu
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 Processing time: 79 Days and 8.5 Hours
Abstract
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.
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.
