CASE REPORT article
Front. Med.
Sec. Hepatobiliary Diseases
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1599283
Hepatolenticular Degeneration-Induced Hepatic dysfunction with Extremely Atypical Clinical Manifestations: A Case Report
Provisionally accepted
- 1First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, China
- 2Anhui University of Chinese Medicine, Hefei, Anhui Province, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Hepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric manifestations, cirrhosis, renal impairment, and the Kayser-Fleischer ring. Furthermore, its key diagnostic bases include the ceruloplasmin level, copper oxidase activity, trace copper in the human body, brain Magnetic Resonance Imaging (MRI), and genetic testing. Here, we present an HLD case with atypical clinical manifestations. A 43-year-old male HLD patient presented to our hospital with normal copper oxidase activity and serum copper levels, as well as results of ceruloplasmin testing, slit-lamp examination, and histopathological examination of the liver, which showed no typical manifestations. On the other hand, the genetic testing results showed new mutation sites. To improve our clinical understanding of HLD and reduce the probability of misdiagnosis and missed diagnosis, we discussed and clarified the clinical manifestations, pathogenesis, and diagnosis and treatment of the disease, all based on existing literature.
Keywords: Hepatolenticular Degeneration, hepatic dysfunction, atypical clinical manifestations, case report, whole exome sequencing
Received: 24 Mar 2025; Accepted: 22 Apr 2025.
Copyright: © 2025 Tao, Zhou, 蒋, Hu, Jia and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Meixia Wang, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.