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Table of Contents    
Year : 2012  |  Volume : 60  |  Issue : 6  |  Page : 667-669

Lumbar disc herniation in a patient of alkaptonuria: Case report and review of literature

Department of Neurosurgery, National Neurosciences Centre, Peerless Hospital Complex, 360 Panchasayar, Kolkata, West Bengal, India

Date of Submission05-Sep-2012
Date of Decision12-Sep-2012
Date of Acceptance06-Sep-2012
Date of Web Publication29-Dec-2012

Correspondence Address:
Prasad Krishnan
Department of Neurosurgery, National Neurosciences Centre, Peerless Hospital Complex, 360 Panchasayar, Kolkata, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.105218

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How to cite this article:
Krishnan P, Chowdhury SR. Lumbar disc herniation in a patient of alkaptonuria: Case report and review of literature. Neurol India 2012;60:667-9

How to cite this URL:
Krishnan P, Chowdhury SR. Lumbar disc herniation in a patient of alkaptonuria: Case report and review of literature. Neurol India [serial online] 2012 [cited 2021 Mar 9];60:667-9. Available from:


A 47-year-old male presented with sudden onset severe radicular pain in the left lower limb of 2 weeks duration due to which he was unable to walk even a few steps. The pain used to subside on lying down and increase with straining and position change. On examination motor power in the left ankle dorsiflexors and toe extensors was grade 3/5 and in the ankle plantar flexors and toe flexors was grade 2/5. Both ankle jerks were absent. There was 50% loss of touch sensation in the left L5 and 90% loss in the left S1 dermatome. Straight leg rising was grossly restricted on the left side. Plain X-ray of spine showed diminished disc space in all the lumbar vertebral levels [Figure 1]. Magnetic resonance imaging (MRI) showed left centrolateral disc prolapse at L4-L5 and L5-S1 levels. The normal signal of the nucleus pulposus was maintained [Figure 2]and [Figure 3]. Left L4-L5 and L5-S1 fenestration and discectomy was done. The left L5 and S1 roots were tense. An extra annular and downwardly migrated fragment was removed from behind the S1 body. Intra-operatively, the disc was found to be blackish in color [Figure 3]. It was adherent to the roots from which it was dissected out. The disc spaces were chinked and the disc between the bodies could only be accessed with difficulty. Suspecting oochronosis, the patient was investigated for alkaptonuria. He had no scleral discoloration or darkening of the ear cartilages. His urine was normal colored but turned black on addition of Benedict's reagent [Figure 4]. His post-operative period was uneventful.
Figure 1: Lateral view of X-ray spine showing loss of disc height at multiple levels

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Figure 2: Sagittal T2 weighted image showing two-level disc prolapse at L4-L5 and L5-S1 with normal signal of the nucleus pulposus

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Figure 3: Degenerated disc material with pigmentation

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Figure 4: Blackening of the urine on addition of Benedict's reagent

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Alkaptonuria is an autosomal recessive disorder of phenylalanine and tyrosine metabolism due to a chromosomal defect in the long arm of Chromosome 3. [1] There is a deficiency of the enzyme homogentisic acid oxidase resulting in increased excretion of homogentisic acid in urine and its deposition in tissues. Cartilagenous tissue has a particular affinity for this pigment and this leads to arthritic changes in the back, hips and shoulders. Kidney and prostatic calculi, scleral and ear pigmentation, valvular and aortic calcification are extra-articular manifestations of this disease. The term alkaptonuria was coined by Boedekerto describe urinary discoloration due to a reducing compound. [2] Virchow (coined the term "oochronosis" (Yellow disease in Greek) to describe the microscopic appearance of the pigmentation which he found in the musculo-skeletal tissues and intima of blood vessels. In 1915, Sondenberg described the spinal changes associated with oochronosis and termed the condition "ostetis deformans alkaptonurica". [3] The reported incidence of the disease varies between 1 in 200,000 [1] to 1 in 1,000,000. [3]

Though the spine is commonly involved in this condition, reports of lumbar disc disease in alkaptonuria are rare. Kalevski et al. [4] hold that "it is rare for patients with oochronosis to undergo lumbar surgery since the disc protrusion is not characteristic symptom and overlaps with general complaints due to spondyloarthritic and stenotic changes". Gurkanlar et al. [5] also emphasized that while the lumbar region is frequently involved in this disease, disc prolapse as the presenting feature of alkaptonuria is not common. We performed a Pubmed search using the terms 'alkaptonuria' and 'lumbar disc herniation' and recovered 6 articles. Search has retrieved 22 articles and when the search was restricted to herniation, only 6 results were retrieved. Disc surgery in alkaptonuria yielded a mere 10 results [of which one each was on ocular, meniscal and hip pathology]. In all, we found 14 cases [out of whom 1 patient presented with thoracic myelopathy due to disc prolapse [6] and 1 with root canal stenosis [7] [Table 1]. The earliest case report was by Field et al. in 1963 [8] while Slowik et al. [9] has described the only case of siblings with familial alkaptonuria presenting with lumbar disc disease. Our patient did not have any family members with similar problem or with blackening of urine on standing or with Benedict's reagent. Reddy et al. [3] have described the only other case from India. The disease is usually diagnosed retrospectively after surgery [3],[5],[10],[11] (as in our case) and elevated levels of homogentisic acid in urine or characteristic color changes in urine with silver nitrate (black), Benedict's solution (black) or Ferric chloride (purple) are confirmatory. Gradual decrease of the disc space with eventual fusion of the vertebral bodies has been reported [3] and the same has been seen in our patient too. Multiple vacuum discs and pseudoblock vertebrae have been described. According to Reddy et al., [3] no difference in signal intensities in the discs of these patients compared to non-oochronosis patients have been described. Koulalis et al. [12] report that the disc calcification is pronounced at the periphery and tends to spare the nucleus. This may account for the fact that in our case, surprisingly the T2 image showed a bright central nucleus despite disc prolapse, a finding which we do not usually encounter in non-alkaptonuric patients. Almost all authors have stressed on a good result surgically [3],[4],[5],[6],[10],[11],[12] implying that this peculiar pathophysiology of disc degeneration would have no bearing on the management or outcome.
Table 1: Number of cases of alkaptonuria with disc disease

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  References Top

1.Longo N. Inherited disease of amino acid metabolism presenting in adults. In: Kasper DL, Braumwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, editors. Harrison's principles of internal medicine. 16 th ed. Vol.2. New York: Mcgraw-Hill; 2005. p. 2331-4.  Back to cited text no. 1
2.Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med 2002;347:2111-21.  Back to cited text no. 2
3.Reddy DR, Prasad VS. Alkaptonuria presenting as lumbar disc prolapse: Case report and review of literature. Spinal Cord 1998;36:523-4.  Back to cited text no. 3
4.Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: Case study and review of literature. Spine J 2007;7:495-8.  Back to cited text no. 4
5.Gurkanlar D, Daneyemez M, Solmaz I, Temiz C. Oochronosis and lumbar disc herniation. ActaNeurochir (Wien) 2006;148:891-4.  Back to cited text no. 5
6.Akeda K, Kasai Y, Kawakita E, Matsumara Y, Kono T, Murata T, et al. Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976) 2008;33:E62-5.  Back to cited text no. 6
7.Koh KB, Low EH, Ch'ng SL, Zakiah I. A case of alkaptonuria with root canal stenosis. Singapore Med J 1994;35:106-7.  Back to cited text no. 7
8.Feild JR, Higley GB Sr, Desaussure RL Jr. Ochronosis with ruptured lumbar disc: Case report. J Neurosurg 1963;20:348-51.  Back to cited text no. 8
9.Slowik J, Bandur M, Libuszowska D, Bereza M. 2 cases of familial alkaptonuria with neurological complications. Neurol Neurochir Pol 1980;14:559-63.  Back to cited text no. 9
10.Emel E, Karagoz F, Aydin IH, Hacisalihoglu S, Seyithanoglu MH. Alkaptonuria with lumbar disc herniation: A report of 2 cases. Spine (Phila Pa 1976) 2000;25:2141-4.  Back to cited text no. 10
11.Farzannia A, ShokouhiG, HadidchiS. Alkaptonuria and lumbar disc herniation. Report of 3 cases. J Neurosurg 2003;98(1 suppl):87-9.  Back to cited text no. 11
12.Koulalis D, Svolos G, Papaparaskeva K, Grevias G, Kalos S. Lumbar spine herniation with neurological symptoms in a young patient with oochronosis and alkaptonuria. A case report. Acta Orthop Traumatol Hellenica 2006;57.  Back to cited text no. 12


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

  [Table 1]

This article has been cited by
1 Alkaptonuria: A very rare metabolic disorder
Aquaron, R.
Indian Journal of Biochemistry and Biophysics. 2013; 50(5): 339-344


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