A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings

Fucosidosis is a rare autosomal recessive disorder resulting from a deficie ncy of alpha-L-fucosidase. In this report, we describe clinical and magneti c resonance image (MRI) findings of a chronic infantile type patient hetero zygous for a nonsense mutation and a large deletion. The disease onset occu rred at 2-3 years of age. She was bound to a wheelchair at 6 years of age, and developed dystonia at the age of 13 years. Brain MRI at 13 years of age showed marked cerebral and cerebellar atrophy, high intensities in the whi te matter of the frontal and occipital lobes, and low intensities of the bi lateral thalamus, striatum, substantia nigra, red nucleus and mamillary bod ies on T2-weighted images. The low intensities of basal ganglia on T2-weigh ted images seems characteristic of lesions in fucosidosis. (C) 2000 Elsevie r Science B.V. All rights reserved.