Update: Ochronosis


Accumulation of homogentisic acid (HGA), and its metabolites in tissues causes ochronosis. The word ochronosis refers to the dark bluish-black discoloration of connective tissues including the sclera, cornea, auricular cartilage, heart valves, articular cartilage, tendons, and ligaments.

Alkaptonuria frequently occurs in association with lumbar disc disease. In patients with no other signs of alkaptonuria or ochronosis, early detection of the disease is important to treat involvement of other systems (e.g., cardiovascular and urinary) 1).

Neurogenic claudication resulting from focal ligamentum flavum hypertrophy in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. In a article, Yucetas and Ucler from Adiyaman present a 71-year-old male patient with alkaptonuria-associated degenerative L3-L4-L5 stenosis, diagnosed after lumbar decompressive laminectomy 2).

A rare case of ochronosis presenting with cervical compressive myelopathy 3).

A 45-year-old previously healthy female patient who was operated on for prolapsed lumbar disc herniation, and in whom the nucleus pulposus was discovered to be black intraoperatively. The alkaptonuria was diagnosed after histopathological examination of the black disc material. Elevated urinary concentration of homogentisic acid confirmed the diagnosis 4).

A 58-year-old woman with back pain. Radiographs and magnetic resonance imaging (MRI) revealed characteristic features of ochronotic spondyloarthropathy 5).

Kalevski et al. published a case of a 33-year old patient with alcaptonuria and lumbar disc herniation. After the surgical treatment the patient’s complaints were alleviated and almost no complaints were registered, during the next follow-up.

The most common symptoms seen in alkaptonuria are complaints of pain in large joints and back pain. They are usually associated with the main disease. This case demonstrates that even there is a small likelihood for a prolapsed lumbar disk, it should be sought in such patients as the surgical treatment is able to yields a positive results 6).

In 1994 Koh et al published a case of alkaptonuria with root canal stenosis 7).

Kaufmann et al. reported a patient with alkaptonuric ochronosis and multiple intracranial aneurysms presenting with subarachnoid hemorrhage. The ruptured aneurysm was surgically treated, with a satisfactory outcome. In view of the well-known association of other connective tissuedisorders with intracranial aneurysms, a potentially causal relationship is suggested between cerebral aneurysms and alkaptonuric ochronosis 8).



Emel E, Karagöz F, Aydín IH, Hacísalihoğlu S, Seyithanoğlu MH. Alkaptonuria with lumbar disc herniation: a report of two cases. Spine (Phila Pa 1976). 2000 Aug 15;25(16):2141-4. PubMed PMID: 10954648.

Yucetas SC, Ucler N. Black-Colored Ligamentum Flavum Due to Alkaptonuria. J Neurol Surg A Cent Eur Neurosurg. 2018 Nov 26. doi: 10.1055/s-0038-1675784. [Epub ahead of print] PubMed PMID: 30477028.

Nelanuthala M, Kotta S, Talari S, Terapalli VK. A rare case of ochronosis presenting with cervical compressive myelopathy. Neurol India. 2018 Jul-Aug;66(4):1178-1181. doi: 10.4103/0028-3886.236956. PubMed PMID: 30038118.

Kahveci R, Ergüngör MF, Günaydin A, Temiz A. Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthop Traumatol Turc. 2013;47(2):134-8. Review. PubMed PMID: 23619548.

Al-Mahfoudh R, Clark S, Buxton N. Alkaptonuria presenting with ochronotic spondyloarthropathy. Br J Neurosurg. 2008 Dec;22(6):805-7. doi: 10.1080/02688690802226368. Review. PubMed PMID: 19085367.

Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J. 2007 Jul-Aug;7(4):495-8. Epub 2006 Dec 29. Review. PubMed PMID: 17630148.

Koh KB, Low EH, Ch’ng SL, Zakiah I. A case of alkaptonuria with root canal stenosis. Singapore Med J. 1994 Feb;35(1):106-7. PubMed PMID: 8009267.

Kaufmann AM, Reddy KK, West M, Halliday WJ. Alkaptonuric ochronosis and multiple intracranial aneurysms. Surg Neurol. 1990 Mar;33(3):213-6. PubMed PMID: 2315833.

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