SCYL1 deficiency: A rare entity with challenging neurological manifestations after liver transplantation

Author:

Warasnhe Khaled1,Özçay Figen2,Kılıç Esra3,Sezer Taner4,Haberal Mehmet5ORCID

Affiliation:

1. Department of Pediatrics Başkent University Faculty of Medicine Ankara Turkey

2. Department of Pediatric Gastroenterology and Hepatology Başkent University Faculty of Medicine Ankara Turkey

3. Department of Pediatric Genetics Ankara Bilkent City Hospital Ankara Turkey

4. Department of Pediatric Neurology Başkent University Faculty of Medicine Ankara Turkey

5. Department of General Surgery Başkent University Faculty of Medicine Ankara Turkey

Abstract

AbstractBackgroundPediatric acute liver failure (PALF) with undetermined etiology is associated with higher liver transplantation and lower spontaneous recovery (transplant‐free) rates. The diagnostic odyssey in PALF cases hinders appropriate management and follow‐up after liver transplantation. Advances in whole exome sequencing analysis have already been successful at identifying new genetic causes of PALF.Case PresentationWe report a 17‐year‐old girl who underwent liver transplantation at the age of 7 months due to acute liver failure and presented later with abnormal neurological manifestations, that is, gait disturbances, dysarthria, and mental retardation that led us to the diagnosis of SCYL1 deficiency.ConclusionPALF cases should be screened for possible underlying genetic disorders. Genetic studies and reanalysis of whole‐genome sequencing data may help identify new cases and clarify the genotype–phenotype correlation. SCYL1 deficiency should be suspected in PALF patients who develop neurological involvement after LT. Early diagnosis is vital for proper management of ALF crises in SCYL1 deficiency patients. Despite the reported favorable outcomes of ALF crises in SCYL1 deficiency, liver transplantation decision should be discussed on a case‐by‐case basis.

Publisher

Wiley

Subject

Transplantation,Pediatrics, Perinatology and Child Health

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3