Simona
Ortori1, Michela Tosetti2, Marzio Perri3,
Margherita Marchetti1, Gabriele Caproni1, Laura Biagi2,
Mirco Cosottini4, Virna Zampa1, Giuliano Mariani3,
Carlo Bartolozzi1
1Divisione
di Radiologia Diagnostica ed Interventistica, Azienda Ospedaliera
Universitaria Pisana, Pisa, Italy; 2MR Laboratory, Stella Maris
Scientific Institute, Pisa, Italy; 3Divisione di Medicina
Nucleare, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy; 4Dipartimento
di Neuroscienze, Universit di Pisa, Pisa, Italy
Gaucher
disease is the most prevalent inherited, lysosomial storage disease and
results in a deficient level of activity of β-glucocerebrosidase, a
membrane-bound lysosomal enzyme. This deficiency leads to accumulation of the
lipid glucocerebroside in the lysosomes of monocytes and macrophages, called
Gaucher cells. The symptoms and pathology of Gaucher disease result from the accumulation
of Gaucher cells in various organ system, including vertebral bodies. To
evaluate the biochemical process underlying the infiltration of Gaucher
cells, 1H-MRS has been acquired on vertebral bone marrow in patients affected
by Gaucher disease, highlighting a significant reduction of fat content of
any age range
Keywords