Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report

Authors : Lavindra Tomar, Lavindra Tomar, Gaurav Govil, Gaurav Govil, Pawan Dhawan, Pawan Dhawan

DOI : 10.18231/j.ijor.2020.007

Volume : 6

Issue : 1

Year : 2020

Page No : 35-38

Low back pain is one of the commonest symptoms for an orthopaedic consultation. It is also the common first presentation of a rare disorder alkaptonuria. Accumulation of homogentisic acid in connective tissues causes progressive deposition of bluish black pigment causing degenerative changes in ochronotic spine. In this case report, two brothers of Dravidian origin present with alkaptonuria, with clinically more recognizable axial spondyloarthropathy resembling Ankylosing Spondylitis (AS), and the history, clinical presentation, diagnostic techniques, and distinctive diagnosis are reviewed. We suggest for surveillance in clinical practice for this rare, but important cause of back pain.

Keywords: Ochronotic Spondyloarthropathy, Alkaptonuria, Familial Ochronosis.


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