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Case Reports
. 2020 Nov;10(8):58-62.
doi: 10.13107/jocr.2020.v10.i08.1860.

Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature

Ashraf Shaikh  1 , Mohan Desai  1 , Radhakrishna Kantanavar  1 , Swapneel Shah  1
Affiliations
Case Reports

Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature

Ashraf Shaikh et al. J Orthop Case Rep. 2020 Nov.

Abstract

Introduction: Alkaptonuria is a rare metabolic disorder of autosomal recessive pattern of inheritance caused due to homogentisic acid oxidase enzyme deficiency. As a result, polymers of homogentisic acid get deposited in excessive amounts in the connective tissues, leading to brownish-black pigmentation termed as ochronosis. As the disease progresses, chronic inflammation results in arthritis of large weight-bearing joints.

Case report: A 70-year-old female patient presented with complaints of being non-ambulatory since the past 10 days. She gave a history of difficulty in walking for the past 10-15 years associated with pain in the right hip which did not respond to analgesics and physiotherapy. The radiological assessment revealed severe joint destruction of the right hip. The patient underwent a total hip arthroplasty. A provisional diagnosis of ochronosis was made intraoperatively which was later confirmed on histopathological examination of the tissue.

Conclusion: At present, there is still no known effective medical treatment to halt alkaptonuria entirely. Ochronotic arthropathy is usually managed conservatively. However, for severely involved hip joints, arthroplasty can provide extremely good results.

Keywords: Ochronosis; alkaptonuria; arthroplasty; ochronotic arthropathy.

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Conflict of interest statement

Conflict of Interest: Nil

Figures

Figure 1
Figure 1
Pelvis with both hips roentgenogram demonstrating bilateral hip arthritis with severe joint destruction of the right hip.
Figure 2
Figure 2
Bilateral knees with severe tricompartmental arthritis.
Figure 3
Figure 3
X-ray of the spine demonstrated fusion of vertebral bodies resembling a bamboo spine appearance.
Figure 4
Figure 4
MRI of the hip joint (coronal, axial, and sagittal sections).
Figure 5
Figure 5
Classic degenerative changes at hip joint.
Figure 6
Figure 6
Dark and thickened soft tissues.
Figure 7
Figure 7
Black pigmentation of the sclera ear pinna.
Figure 8
Figure 8
Urine turning dark on standing for 24 h.
Figure 9
Figure 9
HPE: Brownish-black pigmentation, foreign body type giant cells, and inflamed synovial tissue, all being typical findings of ochronosis.
Figure 10
Figure 10
Post-operative X-ray of the patient – uncemented total hip arthroplasty.
See this image and copyright information in PMC

References

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