“ A rare autosomal recessive enzyme defect (homogentisic acid oxidase) resulting in homogentisic acid deposition, particularly in the joint...
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A rare autosomal recessive enzyme defect (homogentisic acid oxidase) resulting in homogentisic acid deposition, particularly in the joints. This leads to joint degeneration and inflammation, known as ‘ochronosis’. Ochronosis tends to affect large joints. It may also affect the eye and can cause urinary calculi, renal failure and cardiac failure.
SPINE X-RAY
• Marked calcification and loss of height of multiple intervertebral discs predominantly in the lumbar spine (then thoracic, then cervical)
• No syndesmophytes (unlike ankylosing spondylitis [AS])
• Intervertebral disc calcification
KNEE X-RAY
- Premature osteoarthritis
- Chondrocalcinoisis
There are multiple intervertebral disc calcification at different intervertebral levels with disc space narrowing and syndesmophyte formation and scoliosis.
Subchondral sclerosis and irregular and asymmetrical joint space narrowing at bilateral hip joints.
Narrowing of bilateral sacroiliac joint spaces.
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