• 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.
O'Brien JS, Bernett J, Veath ML, Paa D. Lysosomal Storage Disorders: Diagnosis by Ultrastructural Examination of Skin Biopsy Specimens. Arch Neurol. 1975;32(9):592–599. doi:10.1001/archneur.1975.00490510048002
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