Alcaptonuria with Myelopathy and Neuropathy

Objective and Importance: Myelopathy sec- ondary to alcaptonuria or ochronosis has been reported in only a few patients, but no reports on alcaptonuria and neuropathy have been available. Clinical Presentation: We re- port a case of alcaptonuria in a 55-year-old patient who presented with neuropathy and myelopathy after sustaining injuries in a traf- fic accident. Alcaptonuria, which is a rare autosomal recessive disorder characterized by the inability to metabolize homogentisic acid, was confirmed by the presence of ho- mogentisic acid in the urine of the patient and by typical radiological changes in the spine, hips and knees. Conclusion: The asso- ciation of alcaptonuria and peripheral neu- ropathy in this patient may remain acciden- tal; nevertheless, the possibility exists that it is a further disorder of amino acid metabo- lism associated with neuropathy.