title: Electron microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases.
abstract: Skin and conjunctival biopsy specimens from fourteen patients with neuronal storage diseases were investigated using an electron microscope. The diseases were Tay-Sachs disease, ceroid-lipofuscinosis (Jansky-Bielschowsky type), Niemann-Pick disease (type B), highly suspected adrenoleukodystrophy, I-cell disease, mucolipidosis of the beta-galactosidase deficient type, Hurler disease, Hunter disease and Morquio disease. This examination provided valuable diagnostic information on some neuronal storage diseases but not on Morquio disease or highly suspected adrenoleukodystrophy. False negative results may sometimes occur using this examination method. However, this examination suggests the usefulness of skin and conjunctival biopsy specimens as a diagnostic tool in some neuronal storage diseases.
mesh_terms: D000293:Adolescent; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000294:innervation*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D009081:Mucolipidoses / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000473:pathology; D009474:Neurons / Q000648:ultrastructure; D009542:Niemann-Pick Diseases / Q000473:pathology; D012867:Skin / Q000294:innervation*; D013661:Tay-Sachs Disease / Q000473:pathology