Recurrent acute liver failure in infancy - a novel SCYL1 mutation: A case report

doi:10.5409/wjcp.120925

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World Journal of Clinical Pediatrics

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2219-2808

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Clin Pediatr. Sep 9, 2026; 15(3): 120925
Published online Sep 9, 2026. doi: 10.5409/wjcp.120925

Recurrent acute liver failure in infancy - a novel SCYL1 mutation: A case report

Doaa Zourob, Amal Al Teneiji, Mohammad Miqdady, Eman Al Atrash

Doaa Zourob, Department of Pediatrics, Division of Pediatric Gastroenterology, Al Mushrif Children’s Specialty Center, AHS, Pure Health Group, Abu Dhabi 971, United Arab Emirates

Amal Al Teneiji, Department of Pediatrics, Division of Genetics and Metabolic Medicine, Sheikh Khalifa Medical City, Abu Dhabi 971, United Arab Emirates

Mohammad Miqdady, Department of Pediatrics, Division of Pediatric Gastroenterology, Sheikh Khalifa Medical City, Abu Dhabi 971, United Arab Emirates

Eman Al Atrash, Department of Pediatrics, Division of Pediatric Gastroenterology, Mediclinic Airport Road Hospital, Abu Dhabi 971, United Arab Emirates

Author contributions: Zuroub D drafted the manuscript; Al Atrash E edited the manuscript, Zuroub D, Al Atrash E, Teneiji AA, and Miqdady M read and approved the final version of the manuscript.

AI contribution statement: Grammarly was used for language polishing and for response to the reviewer’s comments. AI was not used for writing the 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: All the authors report no relevant conflicts of interest for this article.

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).

Corresponding author: Eman Al Atrash, MD, Consultant, Department of Pediatrics, Division of Gastroenterology, Mediclinic Airport Road Hospital, Airport Road, Abu Dhabi 971, United Arab Emirates. emanalatrash8@gmail.com

Received: March 13, 2026
Revised: April 16, 2026
Accepted: May 25, 2026
Published online: September 9, 2026
Processing time: 143 Days and 7.5 Hours

Core Tip

Core Tip: Recurrent acute liver failure (RALF) in children is an uncommon but life- threatening condition that may mask underlying genetic disorders. We report a child with febrile RALF and subtle neurological findings in whom whole exome sequencing identified a homozygous SCYL1 mutation consistent with a hepatocerebellar syndrome. This case highlights the importance of early genetic evaluation in unexplained RALF, particularly when neurological features are present. Prompt recognition of SCYL1- related disease can refine diagnosis, guide management, prevent unnecessary investigations, and improve long-term clinical outcomes.