1887
Volume 2012, Issue 1
  • ISSN: 1999-7086
  • EISSN: 1999-7094

Abstract

We report a 45 year-old male patient who presented to the emergency department of Hamad General Hospital with recurrent severe low back pain. Clinical examination revealed characteristic deposition of blue-brownish pigment in the sclera and ear. X-ray revealed diffuse intervertebral disc calcification. Alkaptonuria was suspected and the diagnosis was confirmed by detection of high levels of homogentisic acid in the urine.

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2013-07-01
2024-11-01
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References

  1. Fernandez-Canon JM, Granadino B, Beltran-Valero De Bernabe D. The molecular basis of alkaptonuria. Nat Genet. 1996; 14:1:1924
    [Google Scholar]
  2. Srsen S, Vondracek J, Srsnova K, Svac J. Analysis of the life span of alkaptonuric patients. Cas Lek Cesk. 1985; 124: 41–42:12881291
    [Google Scholar]
  3. O'Brien WM, La Du B N, Bunim JJ. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis andochronotic arthropathy: Review of world literature (1584–1962). Am J Med. 1963; 34:6:813838
    [Google Scholar]
  4. Perry M, Suwannarat P, Furst G, Gahl W, Gerber L. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol. 2006; 33:11:22802285
    [Google Scholar]
  5. Shimizu I, Hamada T, Khalpey Z, Minyanishi K, Hara T. Ochronotic arthropathy: pathological evidence of acute destruction of hip joint. Clin Rheumatol. 2007; 26:7:11891191
    [Google Scholar]
  6. Khan MA. In: Calin A , ed. Spondylarthropathies. Orlando: Grune and Stratton 1984;:69117
  7. Rose GK. Ochronosis. Br J Surg. 1957; 44:187:481482
    [Google Scholar]
  8. Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J. 2007; 7:4:495498
    [Google Scholar]
  9. Vagts DA, Beck CE. Perioperative management of a patient with alkaptonuria—a case report. Anaesthesiol Reanim. 2004; 29:2:5558
    [Google Scholar]
  10. Phornphutkul C, Introne WJ, Perry MB. Natural history of alkaptonuria. N Engl J Med. 2002; 347:26:21112121
    [Google Scholar]
  11. Pomeranz MM, Friedman LJ, Tunick IS. Roentgen findings in alcaptonuric ochronosis. Radiology. 1941; 37::295
    [Google Scholar]
  12. Eisenberg H. Alkaptonuria, ochronosis, arthritis and ruptured intervertebral disk complicated by homologous serum reaction. Arch Intern Med. 1950; 86:1:7986
    [Google Scholar]
  13. Izzol Caputo M, Costi U. Magnetic resonance and traditional radiology in the spine localizations ofalkaptonuric ochronotic arthropathy. G Chir. 2005; 26:3:7882
    [Google Scholar]
  14. Phornphutkul C, Introne WJ, Perry MB. Natural history of alkaptonuria. N Engl J Med. 2002; 347:26:21112121
    [Google Scholar]
  15. Kobak AC, Oder G, Kobak S. Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. J Clin Rheumatol. 2005; 11:6:323325
    [Google Scholar]
  16. Introne WJ, Phornphutkul C, Bernardini I. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab. 2002; 77:1-2:136142
    [Google Scholar]
  17. Davies S, Chapman S, Nakielny R. Aids to Radiological Differential Diagnosis. 3rd ed: Bailliere Tindall 1995;:84
    [Google Scholar]
  18. Markovchic V, Pons P. Emergency Medicine Secrets. Third edition. Philadelphia: Hanley & Belfus 2003;:83
    [Google Scholar]
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