Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis

The clinical, biochemical, pathological and neuroradiological findings of a 2-year-old Saudi buy with infantile G(M1) gangliosidosis are reported. The patient had a progressive neurologic deterioration, manifesting with devel opmental regression, sensorimotor and psychointellectual dysfunction and ge neralized spasticity that started at 4 months of age. Cherry-red macula, fa cial dysmorphia, hepatomegaly, exaggerated startle response to sounds, skel etal dysplasia, and vacuolated foamy lymphocytes that contain finely fibril lar material in addition to lamellar membranes and electron-dense rounded b odies were seen. MRI of the brain demonstrated mild diffuse brain atrophy a nd features of delayed dysmyelination and demyelination. Brain FDG PET scan revealed a mild decrease in the basal ganglia uptake, and moderate to seve re decrease in thalamic and visual cortex uptake, and an area of increased glucose uptake in the left frontal lobe, probably representing an active se izure focus. The functional changes indicated by FDG PET scan and the struc tural abnormalities shown on MRI were found to be complementary in the imag ing evaluation of infantile G(M1) gangliosidosis. (C) 1999 Elsevier Science B.V. All rights reserved.