Technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease

The authors report serial technetium-99m hexamethyl-propylene-amine-oxime b rain single photon emission computed tomography (SPECT) findings in two inf ants with Gaucher's disease type 2. Detailed neurologic and laboratory exam inations, including bone marrow biopsies and enzymatic assays, were describ ed. Serial brain magnetic resonance imaging studies in one patient illustra ted the progressive cerebral atrophy in the frontal and temporal lobes. The SPECT in both cases demonstrated positive findings of initial scattered hy poperfusion, with extending to hypoperfusion of the entire cerebrum after 4 months of clinical deterioration. These changes in the SPECT findings may reflect progressive degeneration of the cerebrum in Gaucher's disease type 2. Brain SPECT may provide useful information on cerebral flow and metaboli c distribution corresponding to the neurologic deficits of neuronopathic Ga ucher's disease. (C) 1999 by Elsevier Science Inc. All rights reserved.