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September 1975

Lysosomal Storage Disorders: Diagnosis by Ultrastructural Examination of Skin Biopsy Specimens

Author Affiliations

From the Department of Neurosciences (Dr. O'Brien and Mrs. Veath) and the Mandeville Electron Microscopy Suite (Mrs. Bernett), University of California at San Diego, La Jolla, Calif, and the University Hospital and the Children's Hospital, San Diego, Calif (Dr. Paa).

Arch Neurol. 1975;32(9):592-599. doi:10.1001/archneur.1975.00490510048002

• 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 2; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM, 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.

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