[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.
D001706:Biopsy / Q000379:methods*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis / Q000473:pathology; D009081:Mucolipidoses / Q000175:diagnosis / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000473:pathology; D012867:Skin / Q000648:ultrastructure*
Contribution de la biopsie cutanée au diagnostic des encéphalopathies métaboliques