MRI OF NEURONAL CEROID-LIPOFUSCINOSIS .1. CRANIAL MRI OF 30 PATIENTS WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS

We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (J NCL). The patients (aged 6-25 years) and 43 age-matched healthy volunt eers underwent MRI. After visual assessment, the signal intensity was measured on T2-weighted images in numerous locations. The thickness of the cortex and corpus callosum and the dimensions of the brain stem w ere measured. Mild to moderate cere bral atrophy was found in 14 of 30 patients. most of them over 14 years of age; 5 older patients had mil d to moderate cerebellar atrophy. There was reduction in the size of t he corpus callosum and brain stem. The thalamus. caudate nucleus and p utamen appeared to give low signal in patients from the ages bf 7, 11 and 11 years, respectively. In contrast, the signal intensity measured from the thalamus in these patients showed only a slight (insignifica nt) decrease compared with controls. The most significant alteration, an increase in measured signal intensity, was found in the white matte r (P < 0.0001), even in the youngest patients. The MRI findings correl ated significantly with decreased intelligence, speech disturbances an d motor problems. Although MRI findings in JNCL do not appear very spe cific and the visual changes develop relatively late, the absence of p athological MRI findings in the very early stage of the disease may pl ay a part in differential diagnosis of tile different types of NCL. Fu rthermore: the MRI findings may be used in assessing severity and prog nosis, particularly in young patients.