Bone Disease Associated With Hereditary Diffuse Leukoencephalopathy With Spheroids

Abstract

This 14-year-old adolescent male with a diagnosis of metaphyseal dysplasia presented for evaluation of left hemibody dysfunction. His facial features were coarsened. Examination showed a mild left hemiparesis. Magnetic resonance imaging showed relatively symmetric areas of restricted diffusion involving the posterior frontal/frontoparietal deep white matter. Restricted diffusion extended along the corticospinal tracts to the level of the ventral cerebral peduncles (Figs 1 and 2). There was initial suspicion of an inflammatory or metabolic etiology for these changes. Magnetic resonance imaging of the spine showed fish-shaped vertebrae and a narrow spinal canal at C1 (Fig 3). A skeletal survey had shown an unusual sclerosing skeletal dysplasia, with undertubulation and flaring of the metaphyses of most of the tubular long bones. There was expansion of the clavicles, pubic, and ischial bones and mild expansion of the ribs. Cortical thickening was noted in the distal aspect of the phalanges of both hands and feet. FIGURE 2The lesions (arrows) demonstrate robust hyperintensity on diffusion-weighted images. Corresponding apparent diffusion coefficient images demonstrate signal loss consistent with restricted diffusion. The color version of this figure is available in the online edition. View Large Image Figure Viewer Download Hi-res image FIGURE 3Sagittal T2-weighted images show diffuse fish-shaped vertebral bodies. These result from disk remodeling of weakened endplates (arrows). The color version of this figure is available in the online edition. View Large Image Figure Viewer Download Hi-res image