Study design: Case report.
Objective: To report a rare case of alkaptonuria presenting as a T1-hyperintense disc herniation.
Summary of background data: A 46-year-old man without previous diagnosis of alkaptonuria underwent evaluation for progressive back pain revealing a T1-hyperintense disc herniation at the L3-L4 level. Discectomy recovered a blackened disc that was pathologically confirmed to be nucleus pulposus with alkaptonuric involvement. The differential diagnosis of a T1-hyperintense, T2-hypointense disc on magnetic resonance imaging is discussed, with emphasis on the pathophysiology of alkaptonuria.
Methods: A single patient is reported.
Results: Pathologically proven patient presentation with radiological and pathological images.
Conclusion: We report a rare case of alkaptonuria presenting as a T1-hyperintense disc herniation.