MR findings in mannosidosis

MR findings are reported in three patients presenting mannosidosis. Among a family of 8 children, 4 presented typical clinical and biological abnormalities related to mannosidosis. Brain MR examinations including sagittal T1 and axial T2 sections were obtained in three patients of this family (one 25-year-old male, one 34-year-old female, and one 35-year-old female). MR scans demonstrate seven types of modifications: brachycephaly, thick calvaria, verticalization of the chiasmatic sulcus, poor pneumatization of the sphenoid body, partial empty sella turcica, cerebellar atrophy, and white matter signal modifications. High signal abnormalities involving the parieto-occipital white matter are identified on axial T2-weighted scans in the three patients and are probably related to demyelination and associated gliosis as described previously by several authors on specimens. (orig.)