Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.
Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 3; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM1 gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease, This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis / Q000473:pathology; D005776:Gaucher Disease / Q000175:diagnosis / Q000473:pathology; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008064:Lipidoses / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008059:Mucopolysaccharidosis I / Q000473:pathology; D016532:Mucopolysaccharidosis II / Q000473:pathology; D009084:Mucopolysaccharidosis III / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000473:pathology; D012867:Skin / Q000648:ultrastructure*