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[Severe spine lesion following alkaptonuria. Case report]
A V Gorozhanin1, A V Kuzin2,3, A B Bludov4
1Botkin Moscow City Clinical Hospital, Moscow, Russia.
Zhurnal Voprosy Neirokhirurgii Imeni N. N. Burdenko
|October 29, 2021
Summary
Alkaptonuria, a rare genetic disorder, causes ochronotic pigment deposition in connective tissues, leading to spinal degeneration. This case highlights cauda equina compression due to ochronotic cartilage in intervertebral discs.
Area of Science:
- Medical Genetics
- Biochemistry
- Orthopedics
Background:
- Alkaptonuria is a rare autosomal recessive metabolic disorder.
- Characterized by impaired homogentisic acid metabolism, leading to melanin-like pigment deposition.
- Connective tissues, particularly cartilage, are primary sites of ochronotic deposition.
Observation:
- A 67-year-old patient with previously diagnosed alkaptonuria presented with spinal issues.
- Surgical findings revealed damaged intervertebral discs and ligaments with black ochronotic pigment.
- Evidence of cauda equina compression by affected cartilage masses was observed.
Findings:
- The patient's alkaptonuria diagnosis was confirmed through surgical visualization of black pigmentation.
- Histological examination further supported the diagnosis and the extent of ochronotic deposits.
- Degenerative changes in lumbar intervertebral discs contributed to spinal complications.
Implications:
- This case underscores the potential for severe spinal complications in alkaptonuria patients.
- Ochronotic pigment deposition can lead to significant structural damage and neurological compromise.
- Highlights the importance of recognizing and managing spinal manifestations in rare metabolic diseases.
