Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses

Brain perfusion was studied with the Tc-99m-HMPAO SPECT method in 19 INCL patients, 21 JNCL patients and 5 patients with Jansky-Bielschowsky Variant disease (JBVD). The typical SPECT findings at an early stage of INCL were bilateral anterior frontal, posterior temporoparietal and occipital hypoperfusion, whereas reduction in cerebellar perfusion appeared later, However, perfusion of basal ganglia and thalami, although atrophic on MRI, was usually well preserved up to the terminal stage. All INCL patients except one had at least one hypoperfused area, Mild hypoperfusion was usually located in the parietal and occipital robes and cerebellum, whereas more severe hypoperfusion was observed in the temporal lobes. In JNCL, SPECT revealed lesions not detected on CT. All JBVD patients had supra- and infratentorial hypoperfusion, which was usually bilateral, This study shows that although in NCLs brain hypoperfusion can appear prior to structural abnormalities seen on MRI or CT, such abnormalities are not always associated with significant hypoperfusion.