Alcaptonuria with lumbar disc prolapse: case study and review of the literature

Abstract Background context Patients with alcaptonuria frequently complain of pain in the large joints and the spinal column, this condition is being assumed to be normal. It is very rare for patients with ochronosis to undergo lumbar surgery since the disk protrusion is not characteristic for them and overlaps with the general complaints due to the spondiloarthritic and stenotic changes. Purpose To prove the possibility of a lumbar disc herniation in a patient with alcaptonuria as a real entity that causes lumbar and radiculalgic complaints. Study design A case of a 33-year old patient with alcaptonuria and lumbar disc herniation is presented. Methods The case is presented together with its clinical course, the diagnostic techniques, the surgical findings, histological results and the treatment outcome. Results After the surgical treatment the patient's complaints were alleviated and almost no complaints were registered, during the next follow-up. Conclusions The most common symptoms seen in alcaptonuria are complaints of pain in large joints and back pain. They are usually associated with the main disease. The case we present demonstrates that even there is a small likelihood for a prolapsed lumbar disk, it should be sought in such patients as the surgical treatment is able to yields a positive results.