MUCOPOLYSACCHARIDOSIS-VII - POSTMORTEM BIOCHEMICAL AND PATHOLOGICAL FINDINGS IN A YOUNG-ADULT WITH BETA-GLUCURONIDASE DEFICIENCY

The postmortem biochemical and pathological findings in the first pati ent reported with mucopolysaccharidosis VII are described. Clinical, r adiographic, and biochemical features of this 19-yr-old black man were initially reported in 1973 when, at age 2 1/2 yr his enzymatic defect , deficiency of beta-glucuronidase, was identified. The autopsy findin gs are now described with biochemical data further characterizing the enzyme deficiency and resultant glycosaminoglycan accumulation. He had dysostosis multiplex and extensive cardiovascular lesions including a rterial stenosis, and marked fibrous thickening of the atrioventricula r and aortic valves. Microscopic evidence of lysosomal storage was fou nd in bone, cartilage, arteries and cardiac valves, liver, spleen, lym ph nodes, eyes, adrenal, pituitary, and the central nervous system. In the brain, storage was localized to specific regions, primarily intra neuronal, and appeared ultrastructurally as delicate whorled filamento us accumulations in lysosomes. Similar filamentous storage also occurr ed in medial cells of the aorta. Multiple postmortem tissues contained only trace amounts of beta-glucuronidase and elevated glycosaminoglyc ans, predominantly chondroitin 4- and 6-sulfate.