Alpers Syndrome with Hepatic Cirrhosis

Molecular diagnosis of Alpers syndrome.

BACKGROUND/AIMS Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder. METHODS The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG muta...

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

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 th...

Infective hepatitis with hepatic cirrhosis.

THE patient was a thirty-four-year-old British soldier who had qeen a prisoner of war in German hands from 1940 until he was liberated in 1945. He was on the "thousand-mile forced march" from Poland to Germany in the face of the aqvancing Russian Army. While in captivity he had little food to eat and his meals were very small. On return to the U.K. he found that he coul(l never eat more than ve...

Hepatic Cirrhosis

TIhC 0CCLPTen1CC inI h1o0Spitall Within a conmparatively shiort space of time of touIr unuISula.l examllples of cirrhosis of tihe li\-er in-younil-chil(lren has le(d us to Iake this comlnlLI1liunictionl. Disorders of tihe liver in chil(lhoo(l ha\ve iii recent N'ears not attracted imiuchi attentioni in tihis country, and we feel that tlhe mere ventilation of the suLb)ject, thIough,0LI we mXVn ha...

[Hepatic cirrhosis].