Abstract
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.