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Mitochondrial DNA depletion syndromes (MDS) are a group of autosomal recessive disorders caused by disruption of mtDNA maintenance that results in reduced mtDNA content and disturbed energy production. MDS are genetically and phenotypically heterogeneous. One common phenotype is the hepatocerebral form that manifests in first months of life and causes early death due to liver failure. Liver transplantation (LTx) in not recommended in patients with neurological involvement. Our objective is to raise awareness about the clinical spectrum of early onset liver failure due to MDS.

We report clinical course and genotype of four patients with hepatocerebral form of MDS.

Patients 1 and 2, daughters of consanguineous Roma parents, presented with liver failure at six and two days of life, respectively. The older sibling had lactic acidosis and progressive liver failure, without clear neurological involvement. Liver …