Manifestazioni ematologiche nelle malattie mitocondriali con mutazione dell’mt-DNA

We report a 10-month-old girl who, at the age of 4 months, was admitted for increasing pallor. Severe normocytic anaemia, neutropenia and thrombocytopenia and typical diffuse vacuolization of marrow haemopoietic precursors were present. She also presented with mild lactic acidosis. Molecular analysis of mt-DNA revealed an 8.000 bp single macrodeletion. Unexpectedly, anaemia was not sideroblastic and there was no exocrine pancreatic dysfunction. Pearson marrow/pancreas syndrome is a usually fatal mitochondrial disease that involves the haematopoietic system, and usually also exocrine pancreas, liver and kidneys. Other mitochondrial cytopathies with mt-DNA mutation can have haematological manifestations, most of all sideroblastic anaemia. Mitochondrial diseases should be considered in the differential diagnosis of anaemia/pancytopenia in infancy.