The basic understanding of many neurogenetic diseases requires study of the clinical, biochemical, and pathological aspects. To study the pathological aspects, the organs affected by the disease must be observed. We have used volume visualization techniques to create three-dimensional (3D) brain images of a patient with late infantile metachromatic leukodystrophy (MLD). The 3D brain images showed clearly, stereographically, and non-invasively the intracerebral lesion. This lesion, which indicated hyperintensity in magnetic resonance (MR) images, extended throughout the periventricular white matter. The 3D brain images are provided to integrate information. Volumetric ray-casting was useful in obtaining directly images of the entire brain and in allowing an intuitive understanding of the extension of the lesion in three dimensions and of the extent of the defects in the MLD brain. Isosurfacing facilitated a clear extraction of the lesion located by volumetric ray-casting. Each technique used in this study played a role in visualization and their use was complementary. 3D brain images will promote morphological investigation of neurogenetic diseases.
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