TY - JOUR JO - Polish Journal of Pathology SN - 1233-9687 VL - 69 IS - 3 PY - 2018 ID - Pronicki2018 TI - Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis AB - 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. AU - Pronicki, Maciej AU - Piekutowska-Abramczuk, Dorota AU - Rokicki, Dariusz AU - Iwanicka-Pronicka, Katarzyna AU - Grajkowska, Wiesława SP - 292 EP - 298 DA - 2018 DO - 10.5114/pjp.2018.79549 UR - http://dx.doi.org/10.5114/pjp.2018.79549 ER -