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Alkaptonuria-Associated Changes in Disc Degeneration

A Case Report

Gruber, Helen E., PhD1,a; Hanley, Edward N. Jr., MD1

doi: 10.2106/JBJS.CC.O.00080
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Case: A thirty-nine-year-old man with alkaptonuria presented with low back pain. Imaging demonstrated lumbar scoliosis, extensive irregularities of end-plate vertebral margins, and Thompson Grade-V disc degeneration. Six months later, the patient returned with a herniated L2-L3 disc. Minimally invasive disc surgery was performed, and harvested disc tissue showed marked extracellular matrix changes and ochronotic pigment deposits.

Conclusion: Scattered previous literature is available regarding disc changes in alkaptonuria. Although rare, alkaptonuria appears to severely impact the disc as reflected by cellular and matrix inclusions that contribute to disc-cell pathology.

1Orthopaedic Biology Research Laboratory, Cannon Research Building, Room 304, Carolinas Medical Center, PO Box 32861, Charlotte, NC 28232.

aE-mail address for H.E. Gruber: helen.gruber@carolinashealthcare.org

Copyright © 2015 by The Journal of Bone and Joint Surgery, Incorporated
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