Alkaptonuria presenting with ochronotic spondyloarthropathy.
Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid. Ochronotic arthropathy is the articular manifestation of alkaptonuria with the most common clinical feature being severe spondyloarthropathy. We present the case of a 58-year-old woman with back pain. Radiographs and magnetic resonance imaging (MRI) revealed characteristic features of ochronotic spondyloarthropathy. The literature regarding management of alkaptonuria is reviewed.
Al-Mahfoudh
R
R
Department of Neurosurgery, Walton Centre, Liverpool, UK.
Clark
S
S
Buxton
N
N
D000474:Alkaptonuria / Q000150:complications* / Q000378:metabolism; D000975:Antioxidants / Q000627:therapeutic use; D001205:Ascorbic Acid / Q000627:therapeutic use; D005260:Female; D050560:Homogentisate 1,2-Dioxygenase / Q000378:metabolism*; D006713:Homogentisic Acid / Q000378:metabolism*; D006801:Humans; D017116:Low Back Pain / Q000209:etiology / Q000628:therapy; D008875:Middle Aged; D009794:Ochronosis / Q000209:etiology* / Q000378:metabolism; D025242:Spondylarthropathies / Q000209:etiology* / Q000378:metabolism
D000975:Antioxidants; D050560:Homogentisate 1,2-Dioxygenase; D006713:Homogentisic Acid; D001205:Ascorbic Acid