Arthroscopic ankle arthrodesis in two alkaptonuria patients.

Abstract

Alkaptonuria is a very rare disorder in which homogentisic acid accumulates due to a deficiency in the activity of homogentisic acid 1,2 dioxygenase. This deficiency results in deposition of a yellowish-brown pigment in connective tissue. Such deposition is termed 'ochronosis' and leads to deterioration in the formation and structure of proteoglycans in hyaline cartilage. These actions lead to fragmentation and rapid destructive arthritis. Often, ochronotic arthritis appears at 40-60 years of age, and many patients are treated symptomatically. Here, we report two patients (three ankles) with ochronotic arthritis who were treated with ankle arthrodesis. In all cases, the postoperative clinical score improved, but the time needed for fusion was prolonged and symptomatic subtalar arthropathy developed in the early postoperative period.

• Authors: Seiya Tomonaga, Ichiro Yoshimura, Kazuki Kanazawa, Takuaki Yamamoto
• Journal: BMJ case reports (BMJ Case Rep) Vol. 16 Issue 10 (Oct 25 2023) ISSN: 1757-790X [Electronic] England
• PMID: 37880174 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Chemical References

• Homogentisic Acid

Topics

• Humans
• Alkaptonuria (complications, surgery)
• Ankle
• Homogentisic Acid
• Osteoarthritis
• Cartilage Diseases
• Arthrodesis