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


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Case Report

Author Details : Lavindra Tomar, Gaurav Govil*, Pawan Dhawan

Volume : 6, Issue : 1, Year : 2020

Article Page : 35-38


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Abstract

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.



Doi : 10.18231/j.ijor.2020.007


How to cite : Tomar L, Govil G , Dhawan P, Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report. IP Int J Orthop Rheumatol 2020;6(1):35-38


Copyright © 2020 by author(s) and IP Int J Orthop Rheumatol. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License (creativecommons.org)