Three-dimensional imaging of cells and tissues for the clarification of pathogenesis of inherited metabolic diseases.

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The basic understanding of sphingolipidosis requires study of the clinical, biochemical, and pathological aspects. To study the pathological aspects, the organs and tissues affected by the disease must be observed. We have used volume visualization techniques to create three-dimensional (3D) images of a brain affected by late infantile metachromatic leukodystrophy (MLD) and of a biopsied kidney tissue affected by Fabry disease.The 3D brain images of a MLD patient 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 provided to integrate information in combination with two-dimensional MR images. 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 playd a role in visualization and their use was complementary.The combination of a laser scanning confocal microscopic analysis and the volume visualization showed stereographically the accumulation of globotriaosylceramide in the biopsied kidney tissue from a patient with Fabry disease.3D images will promote basic and clinical investigations of sphingolipidosis.