Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2019; 7(17): 2630-2636
Published online Sep 6, 2019. doi: 10.12998/wjcc.v7.i17.2630
Wilson disease associated with immune thrombocytopenia: A case report and review of the literature
Tian-Jiao Ma, Gui-Lian Sun, Fang Yao, Zhi-Liang Yang
Tian-Jiao Ma, Gui-Lian Sun, Fang Yao, Zhi-Liang Yang, Department of Pediatrics, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
Author contributions: Ma TJ was responsible for acquisition of the clinical information and writing the manuscript; Yao F assisted in developing the figures and table for the manuscript; Sun GL was responsible for acquisition of the clinical information and reviewing the manuscript; Yang ZL analyzed the data and wrote and reviewed the manuscript; all authors read and approved the final manuscript.
Informed consent statement: Consent was obtained from the patient and her relatives for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts 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: Zhi-Liang Yang, MD, PhD, Attending Doctor, Chief Doctor, Department of Pediatrics, The First Hospital of China Medical University, No. 155, Nanjing North Street, Heping District, Shenyang 110001, Liaoning Province, China. sizhewujiu@163.com
Telephone: +86-24-83282527
Received: February 22, 2019
Peer-review started: February 24, 2019
First decision: June 19, 2019
Revised: June 30, 2019
Accepted: July 20, 2019
Article in press: July 20, 2019
Published online: September 6, 2019
Processing time: 197 Days and 7.9 Hours
Abstract
BACKGROUND

Wilson disease (WD) is a genetic disorder of hepatic copper excretion, leading to copper accumulation in various tissues. The manifestations are quite variable, and hemolytic anemia is the most common hematological presentation. WD associated with thrombocytopenia is very rare.

CASE SUMMARY

We report the case of an 11-year-old Chinese girl with WD that was associated with immune thrombocytopenia (ITP). Thrombocytopenia was the initial chief complaint for her to visit a hematologist, and ITP was diagnosed based on the results of a bone marrow biopsy and positive antiplatelet autoantibodies. About two weeks before the thrombocytopenia was found, the patient developed drooling. Tremors developed in her right hand about one week after being diagnosed with ITP, after which she was admitted to our hospital. Further evaluations were performed. Ceruloplasmin was decreased, with an increased level of copper in her 24-h urine excretion. Kayser Fleischer's ring (K-F ring) was positive. The ultrasound showed liver cirrhosis, and brain magnetic resonance imaging showed that the lenticular nucleus, caudate nucleus, and brainstem presented a low signal intensity in T1-weighted images and high signal intensity in T2-weighted images. WD was diagnosed and a genetic analysis was performed. A compound heterozygous mutation in ATP7B was detected; c.2333G>T (p.Arg778Leu) in exon 8 and c.3809A>G (p.Asn1270Ser) in exon 18. The former was inherited from her father and the latter from her mother. However, her parents showed normal liver function and negative K-F rings. Such a compound mutation in a case of WD associated with ITP in children has not been published previously.

CONCLUSION

WD can associate with thrombocytopenia but the mechanism is still unclear. We recommend that antiplatelet autoantibodies should be tested in WD patients with thrombocytopenia in future to verify the association.

Keywords: Wilson disease; Immune thrombocytopenia; ATP7B; Case report

Core tip: Our findings indicate that Wilson disease (WD) can associate with thrombocytopenia. Some recessive heterozygous mutations can induce WD in combination with other recessive heterozygous mutations in ATP7B. Thrombocytopenia patients with neurological signs or abnormal liver function should be screened for WD because early detection and treatment of WD lead to a better outcome. We recommend that antiplatelet autoantibodies should be tested in WD patients with thrombocytopenia in future to verify the association.