Pagine elettroniche
Manifestazioni ematologiche nelle malattie mitocondriali con mutazione dell’mt-DNA
HAEMATOLOGICAL MANIFESTATIONS IN MITOCHONDRIAL DISEASES WITH mt-DNA MUTATION
R. Cerchio, F. Timeus, P. Saracco, L. Garbarini, P. Quarello, M. Forni1, L. Cordero di Montezemolo, U. Ramenghi, M. Zeviani2
Divisione di Ematologia pediatrica, Dipartimento di Scienze Pediatriche Università di Torino
1Anatomia Patologica,Ospedale Infantile Regina Margherita, Torino
2Divisione di Genetica molecolare, Istituto Nazionale “C. Besta”, Milano
Gennaio 2005 - pagg. 57 -58
Abstract
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.