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Alkaptonuric patient presenting with "black" disc: a case report
Ramazan Kahveci1, Mehmet Fikret Ergüngör, Ahmet Günaydin
1Department of Neurosurgery, Kırıkkale Yüksek Ihtisas Hospital, Ankara, Turkey. kahveci.drramazan@gmail.com
Acta Orthopaedica Et Traumatologica Turcica
|April 27, 2013
Summary
Alkaptonuria (AKU) is rarely diagnosed solely by black disc material found during surgery for lumbar disc herniation. This case highlights AKU detection through unexpected intraoperative findings, confirmed by elevated homogentisic acid levels.
Area of Science:
- Biochemistry
- Orthopedics
- Genetics
Background:
- Alkaptonuria (AKU) is a rare inherited metabolic disorder.
- Characterized by deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD).
- Leads to accumulation of homogentisic acid (HGA), causing ochronosis and tissue damage.
Observation:
- A 45-year-old female presented with prolapsed lumbar disc herniation.
- Intraoperative examination revealed black-colored nucleus pulposus.
- Absence of other typical signs of alkaptonuria prior to this finding.
Findings:
- Histopathological examination of the black disc material confirmed alkaptonuria.
- Elevated urinary concentration of homogentisic acid verified the diagnosis.
- This represents an extremely rare presentation of AKU.
Implications:
- Highlights the diagnostic potential of unexpected intraoperative findings in spinal surgery.
- Suggests alkaptonuria should be considered in cases of unusually pigmented disc material.
- Emphasizes the importance of thorough histopathological and biochemical analysis for rare disease diagnosis.
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