[Skin biopsy in the diagnosis of metabolic encephalopathies].

Abstract

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.

• Authors: J J Martin, C Ceuterick, J G Leroy
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 132 Issue 9 Pg. 639-51 (Sep 1976) ISSN: 0035-3787 [Print] France
• Vernacular Title: Contribution de la biopsie cutanée au diagnostic des encéphalopathies métaboliques
• PMID: 825940 (Publication Type: English Abstract, Journal Article)

Topics

• Biopsy (methods)
• Brain Diseases, Metabolic (diagnosis, pathology)
• Diagnosis, Differential
• Glycogen Storage Disease Type II (diagnosis, pathology)
• Humans
• Lipidoses (diagnosis, pathology)
• Mucolipidoses (diagnosis, pathology)
• Mucopolysaccharidoses (diagnosis, pathology)
• Skin (ultrastructure)