Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?.
10.5223/pghn.2017.20.4.259
- Author:
Sowon PARK
1
;
Hoon Chul KANG
;
Jin Sung LEE
;
Young Nyun PARK
;
Seung KIM
;
Hong KOH
Author Information
1. Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. khong@yuhs.ac
- Publication Type:Case Report
- Keywords:
Alpers-Huttenlocher syndrome;
Liver failure
- MeSH:
Adenosine Triphosphate;
Diffuse Cerebral Sclerosis of Schilder*;
DNA, Mitochondrial;
Eukaryotic Cells;
Hepatitis;
Humans;
Liver Failure*;
Liver Transplantation*;
Liver*;
Mitochondria;
Mitochondrial Diseases;
Oxidative Phosphorylation;
Prognosis;
Seizures
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2017;20(4):259-262
- CountryRepublic of Korea
- Language:English
-
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.
