@Article{Pronicki2018,
journal="Polish Journal of Pathology",
issn="1233-9687",
volume="69",
number="3",
year="2018",
title="Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis",
abstract="Mitochondrial DNA depletion consisting of the systemic reduction of mtDNA copy number in cells may have a heterogenous genetic basis, resulting from a pathogenic change in the nuclear genes involved in mtDNA synthesis. The mode of inheritance is autosomal recessive. Severe hepatocerebral disease represents one of many different clinical forms of so-called mitochondrial depletion syndrome (MDS). We present the liver histopathology of 13 children who eventually died in the course of hepatocerebral MDS confirmed molecularly, harbouring mutations of  DGUOK ,  MPV17 , and  POLG  genes. Material comprising eight autopsy and five liver biopsy specimens showed a moderately reproducible pattern of parenchymal damage, which we consider potentially helpful in the differential diagnosis and planning of the diagnostic investigation in families of children who died due to early-onset acute liver failure and encephalopathy.",
author="Pronicki, Maciej
and Piekutowska-Abramczuk, Dorota
and Rokicki, Dariusz
and Iwanicka-Pronicka, Katarzyna
and Grajkowska, Wiesława",
pages="292--298",
doi="10.5114/pjp.2018.79549",
url="http://dx.doi.org/10.5114/pjp.2018.79549"
}