%0 Journal Article %J Polish Journal of Pathology %@ 1233-9687 %V 69 %N 3 %D 2018 %F Pronicki2018 %T Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis %X 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. %A Pronicki, Maciej %A Piekutowska-Abramczuk, Dorota %A Rokicki, Dariusz %A Iwanicka-Pronicka, Katarzyna %A Grajkowska, Wiesława %P 292-298 %9 journal article %R 10.5114/pjp.2018.79549 %U http://dx.doi.org/10.5114/pjp.2018.79549