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.
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.
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