Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

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Abstract
Iipo-fuscin deposition was studied histochemically and by means of fluorescence microscopy in necropsy specimens from cases of inherited metabolic diseases involving the nervous system. This included 1 case of Niemann-Pick disease, 2 cases of Gaucher''s disease, 2 cases of meta-chromatic leucodystrophy, 1 case of globoid body leucodystrophy, 1 case of infantile amaurotic idiocy and 3 cases of juvenile amaurotic idiocy. The tissue studied were the frontal lobe of the brain, medulla oblongata, cerebellum, heart, liver and spleen. A definite increase of lipofuscin in cortical neurons was seen only in the cases of juvenile amaurotic idiocy. The glial cells, macrophages, myocardium, liver and spleen also contained large amounts of lipofuscin. In cases of infantile amaurotic idiocy large amounts of lipofuscin were seen in the nerve cells of the inferior olive, glial cells, macrophages, and the reticulo-histiocyt-ic cells of the spleen and liver. In metachromatic leucodystrophy large amounts of lipofuscin were seen in the nerve cells of the dentate nucleus and in the glial cells and macrophages of the white matter. Smaller amounts were seen scattered throughout the white matter in the case of globoid body leucodystrophy. The accumulation of lipofuscin may reflect a metabolic disturbance in the degradation of lipids rich in polyunsaturated fatty acids. The pronounced accumulation in neurons and cells of visceral organs in juvenile amaurotic idiocy may be due both to the long duration of the disease and the character of the enzymatic lesion or lesions.

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