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Skeletal Radiology

, Volume 48, Issue 5, pp 819–822 | Cite as

Alkaptonuria—an atypical case: multi-modality imaging review

  • Dillibabu Ethiraj
  • Venkatraman IndiranEmail author
  • Kannan Kanakaraj
  • T. Ramachandra Prasad
  • M. Prabakaran
Case Report

Abstract

Alkaptonuria is a rare inborn metabolic disorder due to a mutation in the homogentisic acid oxidase enzyme (HGO) gene on chromosome 3q. As HGO is deficient in alkaptonuria patients, there is an accumulation of homogentisic acid in the blood and urine. Homogentisic acid gets deposited in the soft tissues, tendons, cartilages, large joints and intervertebral discs. Ochronosis usually affects the dorsolumbar spine and typically spares the cervical spine and sacroiliac joints. However, in this case of isolated ochronosis, we report co-existent extensive cervical spine degenerative changes and cervical vertebral fusion, which has not been described in the literature so far.

Keywords

Alkaptonuria Ochronosis Spondyloarthropathy Black urine disease 

Notes

Compliance with ethical standards

Financial support and sponsorship

Nothing to disclose.

Conflict of interest

There are no conflicts of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Research involving animals

Not applicable.

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Copyright information

© ISS 2018

Authors and Affiliations

  • Dillibabu Ethiraj
    • 1
  • Venkatraman Indiran
    • 1
    Email author
  • Kannan Kanakaraj
    • 1
  • T. Ramachandra Prasad
    • 1
  • M. Prabakaran
    • 1
  1. 1.Department of RadiologySree Balaji Medical College and HospitalChennaiIndia

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