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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 2  |  Issue : 1  |  Page : 108-110

Lumbar disc herniation in ochronosis


Department of Orthopaedics, Devadoss Multispeciality Hospital, Madurai, Tamil Nadu, India

Date of Web Publication11-Jan-2019

Correspondence Address:
Dr. Subbiah Jayakumar
Department of Orthopaedics, Devadoss Multispeciality Hospital, 75/1, Alagar Kovil Main Road, Surveyor Colony, Madurai - 625 007, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/isj.isj_40_18

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  Abstract 


Alkaptonuria is a rare metabolic, autosomal recessive disorder caused by the deficiency of homogentisic acid oxidase and it is characterized by bluish-black discoloration of cartilages, skin (Ochronosis), degenerative changes in the articular, extra-articular cartilages, intervertebral disc, other tissues causing pain in the joints and spinal column. Although intervertebral disc degeneration is common in these patients, those presenting with symptoms severe enough to warrant surgery are rare. Only a few patients have been treated surgically. We present a case of alkaptonuria presenting with radiculopathy and lumbar disc herniation. The case presented demonstrates that although lumbar disc herniation is rare in alkaptonuria, it should be sought in such patients and surgical treatment yields good functional outcome.

Keywords: Alkaptonuria, lumbar disc prolapse, ochronosis


How to cite this article:
Jayakumar S, Devadoss S, Devadoss A. Lumbar disc herniation in ochronosis. Indian Spine J 2019;2:108-10

How to cite this URL:
Jayakumar S, Devadoss S, Devadoss A. Lumbar disc herniation in ochronosis. Indian Spine J [serial online] 2019 [cited 2019 May 23];2:108-10. Available from: http://www.isjonline.com/text.asp?2019/2/1/108/249897




  Introduction Top


Alkaptonuria is a rare, hereditary metabolic disease transmitted as an autosomal recessive pattern, with an incidence of one in one million individuals.[1] It is characterized by the absence of the enzyme homogentisic dioxygenase (HGD), an enzyme involved in the metabolic pathway of aromatic amino acids in the liver and kidneys and subsequent excretion of homogentisic acid (HGA) in the urine. The alkaptonuria gene encoding HGD has been mapped to human chromosome 3q21–q23.[2] The oxidation and polymerization of HGA causes black discoloration of the urine and the connective tissues where it is deposited. Pigmentation may be seen on the skin, teeth, nails, and buccal mucosa.[3],[4] This condition is named as ochronosis. In ochronosis, the pigment is deposited in the hyaline cartilages of the large joints, sclera of the eyes, and intervertebral discs. In the third and fourth decades, severe degenerative disorders occur in the thoracic and lumbar area. The clinical manifestations are similar to that of rheumatoid arthritis, but radiological features indicate severe osteoarthritis and ankylosis of the affected segments. Although degeneration of disc is common in ochronosis, prolapsed intervertebral disc is unusual and patients presenting with lumbar disc prolapse and radiculopathy without typical radiological features of ochronosis are very rare. We report an alkaptonuric patient presenting with lumbar disc herniation and radiculopathy without typical radiological features of ochronosis.


  Case Report Top


A 34-year-old woman had a history of low back pain for 3 years. Initially the pain was mild, nonradiating, was pronounced on strenuous work, and was relieved by rest. On presentation to the outpatient department, she had low back pain that had aggravated for the past 1 month and pain was radiating to the right lower limb. There was also numbness in her right leg. The patient had a history of dark discoloration of her urine on prolonged standing, i.e., after 2 h of exposure to air [Figure 1]. Her father and her 13-year-old son have similar history of urine turning dark color on prolonged standing, but this finding was not present in her daughter. She had increased frequency of micturition and bowel habits. There was no other significant history, and no signs were present on physical examination. During neurological examination, straight leg raising test on the right side was positive at 30° and was negative on the left side. Dorsiflexion of great toe (extensor hallucis longus) power was Grade 3/5. There was decreased sensation in the L5 and S1 dermatomes on the right leg. The patient's hematological and biochemical laboratory studies were normal, except that she was positive for hepatitis B surface antigen (HBsAg positive). Urinary levels of HGA were determined using gas chromatography-mass spectrometry. It was found to be elevated (1.5 g/24 h). On radiological examination of the spine, the roentgenogram of the lumbosacral spine showed narrowing of L1–L2 and L5–S1 disc space [Figure 2]. Other disc spaces were normal, and no other significant findings were found. There was no calcification of the intervertebral discs in roentgenograms. There were no signs of osteoporosis either. A lumbosacral magnetic resonance imaging [Figure 3] showed diffuse annular disc bulge with posterocentral herniation at L1–L2 level, diffuse annular bulge with right paracentral extrusion, and inferior migration at L5–S1 level, compressing the right traversing S1 nerve root. Surgical management in the form of L5 laminectomy and L5–S1 discectomy was planned.
Figure 1: Dark discoloration of urine after prolonged standing

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Figure 2: Anteroposterior and lateral view radiographs of lumbosacral spine showing narrowing of L5–S1 and L1–L2 disc space

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Figure 3: Magnetic resonance imaging of lumbosacral spine showing diffuse annular disc bulge with posterocentral herniation at L1–L2 level, diffuse annular bulge with right paracentral extrusion and inferior migration at L5–S1 level, compressing the right traversing S1 nerve root

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During surgery, there were no abnormalities of the skin, muscles, ligaments, and bones. After laminectomy of L5, the ligamentum flavum was normal in color and inspection of the cord was found to be normal. On retracting the cord, the posterior longitudinal ligament was bluish tinged, and on incising the annulus, the nucleus pulposus removed from the L5–S1 disc space was black [Figure 4]. The extruded disc material fragment was found lying posterior to body of S1. It was removed and was found to be black with consistency of a rubber. The pathologic examination of the disc material showed fibro-elastic connective tissue with degenerative changes showing blackish, diffuse pigmented granules also seen in small linear clusters. Sparse infiltrates of lymphocytes were also seen [Figure 5]. This picture was compatible with ochronosis. Urine HGA excretion was elevated as determined by gas chromatography-mass spectrometry. There was no discoloration in the sclera, cornea, pinna, skin, or fingernails.
Figure 4: Black color disc material and tissues removed during surgery

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Figure 5: Histology of disc material removed showed fibro-elastic connective tissue with degenerative changes showing blackish diffuse pigment granules also seen in small linear clusters

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Postoperatively, the patient had significant relief of leg pain and back pain. She was discharged on the 5th postoperative day. Sutures were removed on the 12th postoperative day. At 4-week postoperative follow-up, the patient had mild back pain and complete recovery of motor and sensory symptoms. At 6-month follow-up, the patient had complete relief of back pain and leg pain. At 1-year follow-up, the patient was absolutely free of leg pain and back pain and her bladder and bowel symptoms settled.


  Discussion Top


Alkaptonuria is a rare disease with an incidence of one in one million individuals. It was first described by Scribonius in 1584 in a child whose urine was black. Later, in 1866, Virchow reported several cases and described ochronosis as a condition characterized by pigmentation of cartilages, ligaments, tendons, and blood vessels. The association between ochronosis and alkaptonuria was described by Albrecht and Zdareck in 1902.[5],[6] Soderbergh in 1915 studied in detail spinal arthritis combined with ochronosis, and named it as “osteitis deformans alkaptonuria.”[7] The manifestations of ochronosis usually occur in the third and fourth decades of life. It manifests as pain in the lower back, thighs, and large joints due to degenerative changes in the articular cartilages and intervertebral discs.[8] The molecule formed as a result of oxidation and polymerization of HGA binds to collagen irreversibly[9] and causes degradation of the cartilage. These changes may cause disc herniations.[9] Alkaptonuria as a systemic disorder may have other systemic involvements such as cardiac valvular disease and nephrolithiasis. In alkaptonuric spondylosis, degenerative changes may be seen along the whole of the spine, and the most prominent involvement is in the lumbar spine. Although lumbar disc herniation is seen in alkaptonuria, cases requiring surgical management are rarely reported.[10] One of the most common signs seen in the lumbar spine is loss of lumbar lordosis and prominence of thoracic kyphosis. The progressive course of the condition finally mimics ankylosing spondylitis. Progressive degeneration and calcification of the nucleus pulposus causes a characteristic radiographic finding described by Pomeranz et al.[11] as universal calcification of the intervertebral discs.[12],[13] However, in general, the severity of the radiological changes does not correspond with the symptoms of the patients. Hence the diagnosis of prolapsed intervertebral disc in ochronosis is unusual, and only a few cases are reported having required surgical management.[14]

The case reported here had a history of blackish discoloration of the urine, and there were no other changes in the color of the skin, eyes, or nails. She also did not have typical roentgenographic findings. All the cases of alkaptonuria reported in the literature had characteristic roentgenographic findings. However, this patient had findings such as bluish discoloration of the posterior longitudinal ligament and black-colored disc material favoring the diagnosis of ochronosis. The histopathological report of the disc also confirmed the diagnosis of ochronosis.

The removal of the prolapsed and extruded disc at the L5–S1 level led to alleviation of back pain and leg pain with remission of her bladder and bowel symptoms. Hence, from the above picture, we were able to conclude that the patient's complaints had been mainly due to the prolapsed disc. In our case, although the characteristic roentgenographic features of ochronosis such as calcification of the disc spaces and degenerative changes were absent, the diagnosis of ochronosis was confirmed by urine findings, surgical findings, and pathological report of the excised disc material. Hence, our case report shows that diagnosis of a herniated disc should be actively sought and surgery should also be considered in patients with alkaptonuria and lumbar radiculopathy. The early diagnosis and prompt treatment of the complications are important to decrease the morbidity in patients with no other signs of alkaptonuria.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

We would like to acknowledge Dr. Ramachandra Reddy, MBBS, D. Ortho, and Dr. M. S. Shashidar, MBBS.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Garrod AE. The incidence of alkaptonuria: A study in chemical individuality 1902 [classical article]. Yale J Biol Med 2002;75:221-31.  Back to cited text no. 1
    
2.
Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14:19-24.  Back to cited text no. 2
    
3.
Gaines JJ Jr. The pathology of alkaptonuric ochronosis. Hum Pathol 1989;20:40-6.  Back to cited text no. 3
    
4.
Krishnan P, Chowdhury SR. Lumbar disc herniation in a patient of alkaptonuria: Case report and review of literature. Neurol India 2012;60:667-9.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
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. 5
    
6.
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;25:2141-4.  Back to cited text no. 6
    
7.
Soderbergh G. To the Alkaptonuria Clinic, in particular, About the Wasserman's reaction and osteitis deformans alkaptonurica. Nordiskmed Active Afd 1915;11:1.  Back to cited text no. 7
    
8.
Kusakabe N, Tsuzuki N, Sonada M. Compression of the cervical cord due to alcaptonuric arthropathy of the atlanto-axial joint. A case report. J Bone Joint Surg Am 1995;77:274-7.   Back to cited text no. 8
    
9.
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. 9
    
10.
Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: Case study and review of the literature. Spine J 2007;7:495-8.  Back to cited text no. 10
    
11.
Pomeranz MM, Friedman LJ, Tunick IS. Roentgen findings in alkaptonuric ochronosis. Radiology 1941;37:295-302.  Back to cited text no. 11
    
12.
Gürkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Wien) 2006;148:891-4.  Back to cited text no. 12
    
13.
Słowik J, Bańdur 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. 13
    
14.
Farzannia A, Shokouhi G, Hadidchi S. Alkaptonuria and lumbar disc herniation. Report of 3 cases. J Neurosurg 2003;98 Suppl 1:87-9.  Back to cited text no. 14
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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