Pediatr Gastroenterol Hepatol Nutr.  2017 Dec;20(4):259-262. 10.5223/pghn.2017.20.4.259.

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

• Park S
• Kang HC
• Lee JS
• Park YN
• Kim S
• Koh H

• KMID: 2398908
• DOI: http://doi.org/10.5223/pghn.2017.20.4.259

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.

Keyword

Alpers-Huttenlocher syndrome; Liver failure

MeSH Terms

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
Adenosine Triphosphate
DNA, Mitochondrial

Figure

• 

  Fig. 1 Liver histopathology (H&E, ×100). The histopathology confirmed marked fatty change, cholestasis, ballooning degeneration and marked ductular proliferation, favoring metabolic disease.

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  Fig. 2 Brain magnetic resonance imaging (MRI). MRI showed multifocal diffusion restriction area in left insula, deep gray matter and bilateral peri-rolandic area.

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