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Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?

Authors
 Sowon Park  ;  Hoon-Chul Kang  ;  Jin-Sung Lee  ;  Young Nyun Park  ;  Seung Kim  ;  Hong Koh 
Citation
 PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION, Vol.20(4) : 259-262, 2017 
Journal Title
 PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION 
ISSN
 2234-8646 
Issue Date
2017
Keywords
Alpers-Huttenlocher syndrome ; Liver failure
Abstract
Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.
Files in This Item:
T201705589.pdf Download
DOI
10.5223/pghn.2017.20.4.259
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Koh, Hong(고홍) ORCID logo https://orcid.org/0000-0002-3660-7483
Kim, Seung(김승) ORCID logo https://orcid.org/0000-0003-4373-9828
Park, So Won(박소원) ORCID logo https://orcid.org/0000-0002-2498-8004
Park, Young Nyun(박영년) ORCID logo https://orcid.org/0000-0003-0357-7967
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161700
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