BRAIN PERFUSION SPECT IN INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (INCL) COMPARISON WITH CLINICAL MANIFESTATIONS AND MRI FINDINGS

We studied brain perfusion in 19 patients with infantile neuronal cero id-lipofuscinosis (INCL), aged 13 months to 11 gears, using Tc-99m-HMP AO single photon emission computed tomography (SPECT). SPECT findings were compared with clinical manifestations and MRI findings. The typic al SPECT findings at an early stage of INCL mere bilateral anterior fr ontal, posterior temporoparietal and occipital hypoperfusion. Initiall y cerebral hypoperfusion was localized and symmetrical, whereas atroph ic findings were more generalized. Reduction in cerebellar perfusion a ppeared later, as did cerebellar atrophy. Progression from mild to sev ere cerebral and cerebellar hypoperfusion was rapid, corresponding to the clinical progression However, the perfusion of deep grey matter st ructures (basal ganglia and thalami), although atrophic on MRI, was of ten well preserved up to the terminal stage. Severe perfusion defects in INCL, which appeared approximately at the age of four, were associa ted with grave clinical manifestations and neuropathologic findings. P articularly, the early SPECT perfusion abnormalities may assist in the differential diagnosis between INCL and other neurodegenerative disea ses.