MUCOLIPIDOSIS TYPE-IV - CHARACTERISTIC MRI FINDINGS

Objective: The objective of this study is to characterize the brain ab normalities on head MRI of patients with mucolipidosis type IV. Backgr ound: Mucolipidosis type TV is an autosomal recessive lysosomal storag e disease of unknown etiology. Patients develop corneal clouding, reti nal degeneration, spastic quadriparesis, and mental retardation. Patie nts with this disorder have not been studied systematically. Methods: We studied prospectively 15 consecutive patients with mucolipidosis ty pe IV using cranial MRI. Results: Fourteen patients with these typical clinical findings had a hypoplastic corpus callosum with absent rostr um and a dysplastic or absent splenium, signal abnormalities on T1-wei ghted head MRI images in the white matter, and increased ferritin depo sition in the thalamus and basal ganglia. Atrophy of the cerebellum an d cerebrum was observed in older patients, which may reflect disease p rogression. One patient with a mild clinical variant had a normal corp us callosum. Conclusion: Patients with mucolipidosis type IV have char acteristic cranial MRI findings that suggest that this disorder causes both developmental and neurodegenerative abnormalities.