Updated: 9/29/2020

Ochronosis

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https://upload.orthobullets.com/topic/9046/images/ochronosis[1]_moved.jpg
Introduction
  • Degenerative arthritis that results from alkaptonuria
  • Pathophysiology
    • excess homogentistic acid is deposited in the joints
    • acid polymerizes in joint and leads to early joint arthritis
  • Genetics
    • rare inborn defect in homogentisic acid oxidase enzyme system 
  • Associated conditions
    • orthopaedic manifestations
      • ochronotic spondylitis
        • commonly occurs in fourth decade
        • progressive degenerative changes in spine
          • calcification
          • narrowing of disc spaces
Presentation
  • Symptoms
    • may complain of black urine
      • caused by polymerization of homogentistic acid 
Imaging
  • Radiographs
    • spine 
      • findings
        • irregular calcification 
        • narrowing of intervertebral discs  
 Treatment
  • Nonoperative
    • no current medical treatment available
 

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Questions (1)

(OBQ11.153) A 55-year-old male presents with a 6 month history of low back pain. Radiographs of the spine are shown in Figures A and B and a lateral knee radiograph is shown in Figure C. A urine specimen is exhibited in Figure D. What is the most likely diagnosis in this patient? Tested Concept

QID: 3576
FIGURES:
1

Disseminated idiopathic skeletal hyperostosis (DISH)

6%

(75/1356)

2

Ochronosis (alkaptonuria)

67%

(914/1356)

3

Chondrodysplasia punctata (Conradi–Hünerman)

1%

(16/1356)

4

Homocystinuria

19%

(263/1356)

5

Ankylosing spondylitis

6%

(84/1356)

L 3 C

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Evidences (4)
VIDEOS (1)
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