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Journal of Rheumatology and Medical Rehabilitation, vol.20, no.3, pp.114-118, 2009 (Scopus)
Alcaptonuria is a rare autosomal recessive metabolic disorder caused by the lack of homogentisic acid oxidase enzyme. Various clinical and radiological abnormalities may appear due to accumulation of homogentisic acid in several tissues. Patients with ochronosis can present with spondiloarthritic and discopatic changes. A 41-years- old male patient admitted to our outpatient clinic with the complaint of low back pain radiating both legs. On physical examination lumbar spine motion were limited and painful to all directions. Flattened of lumbar lordosis, calcifications of the intervertebral discs, and intervertebral discs space narrowing were detected on anteroposterior and lateral lumbar spine plain radiographs. We presented here a 41-years-old male complained with back pain and sciatica who was diagnosed as ochronosis after clinical, radiological and laboratory evaluations. Differential diagnosis of ochronosis and treatment choices of disease were discussed in the light of the current literature. Copyright © 2009 by Türk Tibbi Rehabilitasyon Kurumu Derneǧi.