Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Feb 27, 2025; 17(2): 103299
Published online Feb 27, 2025. doi: 10.4254/wjh.v17.i2.103299
Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report
Kiwako Miyamoto, Sonoko Kondo, Takeo Kondo, Ryou Ishikawa, Ryosuke Tani, Tomoko Inoue, Keiji Matsunaga, Tetsuo Minamino, Takashi Kusaka
Kiwako Miyamoto, Sonoko Kondo, Takeo Kondo, Takashi Kusaka, Department of Pediatrics, Faculty of Medicine, Kagawa University, Miki 761-0793, Kagawa, Japan
Ryou Ishikawa, Department of Diagnostic Pathology, Faculty of Medicine, Kagawa University, Miki 761-0793, Kagawa, Japan
Ryosuke Tani, Tomoko Inoue, Keiji Matsunaga, Tetsuo Minamino, Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University, Miki 761-0793, Kagawa, Japan
Author contributions: Miyamoto K and Kondo T contributed to manuscript writing and editing, and data collection; Kondo S contributed to manuscript writing, editing and data analysis; Ishikawa R contributed to pathological analysis, drafted the manuscript and designed the figures; Tani R, Inoue T, Matsunaga K and Minamino T helped to supervise the manuscript; Kusaka T contributed to conceptualization and supervision; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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 NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sonoko Kondo, MD, Assistant Professor, Department of Pediatrics, Faculty of Medicine, Kagawa University, 1750-1, Ikenobe, Miki 761-0793, Kagawa, Japan. ijichi.sonoko@kagawa-u.ac.jp
Received: November 18, 2024
Revised: December 26, 2024
Accepted: January 21, 2025
Published online: February 27, 2025
Processing time: 97 Days and 20.5 Hours
Core Tip

Core Tip: This report describes a 12-year-old boy with a prolonged history of liver dysfunction and low levels of low-density lipoprotein cholesterol (LDL-C) who was pathologically diagnosed with nonalcoholic steatohepatitis. His father also had a history of prolonged liver dysfunction and low LDL-C. Genetic testing identified a heterozygous mutation in APOB, which confirmed a diagnosis of familial hypobetalipoproteinemia (FHBL) with nonalcoholic steatohepatitis. Nonalcoholic steatohepatitis is well documented in adults with FHBL. This rare report of FHBL in a child indicates that nonalcoholic steatohepatitis can develop within a relatively short period but responded to treatment with vitamin E.