[Skin biopsy in the diagnosis of metabolic encephalopathies]

Ultrastructural study of the skin biopsies of 23 patients with either ceroid-lipofuscinoses, mucopolysaccharidoses, mucolipidoses, acid maltase deficiency or sphingolipidoses, demonstrates the presence of relatively typical cytosomes allowing a precise diagnosis at least as early as the time of the first clinical evaluation.