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Related Experiment Videos

Ochronosis and lumbar disc herniation.

D Gürkanlar1, M Daneyemez, I Solmaz

  • 1Gulhane Military Medical Academy, Ankara, Turkey.

Acta Neurochirurgica
|June 1, 2006
PubMed
Summary

Alkaptonuria, a rare metabolic disorder, can present with lumbar disc herniation. Retrospective diagnosis occurred after observing black discectomy material, highlighting the need for homogentisic acid testing in spinal degeneration.

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Area of Science:

  • Biochemistry
  • Genetics
  • Orthopedics

Background:

  • Alkaptonuria is a rare autosomal recessive metabolic disorder caused by absent homogentisic acid oxidase activity.
  • It affects approximately 0.001% of the population and leads to ochronosis, a pigmentation of connective tissues.

Observation:

  • Lumbar disc herniation is an uncommon presenting feature of alkaptonuria, though the lumbar region is prominently involved.
  • A case is presented where a patient with alkaptonuria underwent surgery for lumbar disc herniation.

Findings:

  • The patient's discectomy material was notably black, prompting a retrospective diagnosis of alkaptonuria.
  • This case illustrates that alkaptonuria is often diagnosed post-operatively upon observing pigmented surgical specimens.

Implications:

  • Urinalysis for homogentisic acid is recommended for all patients with degenerative changes of the vertebral column.
  • Surgical outcomes for disc herniation in patients with alkaptonuria are reported as successful.

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