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Abstract #0792

1H MRS to Detect Biochemical Degenaration of the Vertebral Bone Marrow in Gaucher Disease

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