J Korean Neurosurg Soc.  2016 Jan;59(1):65-68. 10.3340/jkns.2016.59.1.65.

Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine

• Li N
• Tian W
• Yuan Q
• He D

• KMID: 2152921
• DOI: http://doi.org/10.3340/jkns.2016.59.1.65

Abstract

Ochronosis is a musculoskeletal manifestation of alkaptonuria, a rare hereditary metabolic disorder occurs due to the absence of homogentisic acid oxidase and leading to various systemic abnormalities related to deposition of homogentisic acid pigmentation (ochronotic pigmentation). The present case reports the clinical features, radiographic findings, treatments and results of a cervical spondylotic myelopathy woman patient due to the ochronotic arthropathy of the cervical spine. The patient aged 62 years was presented with gait disturbance and hand clumsiness. Physical examination, X-rays, computed tomography and lab results of the urine sample confirmed the presence of ochronosis with the involvement of the cervical spine. The patient underwent a modified cervical laminoplasty due to multi-segment spinal cord compression. The postoperative follow-up showed a good functional outcome with patient satisfaction. The present study concludes the conditions and important diagnostic and surgical aspects of a patient. It is necessary to identify the condition clinically and if cord compression is observed, appropriate surgical interventions needs to be instituted.

Keyword

Ochronosis; Alkaptonuria; Cervical spine

MeSH Terms

Alkaptonuria
Female
Follow-Up Studies
Gait
Hand
Homogentisate 1,2-Dioxygenase
Homogentisic Acid
Humans
Ochronosis
Patient Satisfaction
Physical Examination
Pigmentation
Spinal Cord Compression
Spinal Cord Diseases*
Spine*
Homogentisate 1,2-Dioxygenase
Homogentisic Acid

Figure

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  Fig. 1 Typical ochronotic pigmentation secondary to deposition on the nose, sclera and jowl.

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  Fig. 2 The AP (A) and lateral (B) view of the cervial spine showing reduced disc spaces, pronounced disc calcifications and spondylosis.

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  Fig. 3 Sagittal (A) and axial CT (B) view of the lumbar spine showing the typical vacuum phenomenon and profound water-like calcification with sparing of the central nucleus pulposus.

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  Fig. 4 A and B : The cervical MRI show the spinal cord is compressed at multi-level mainly from the redundant ligamentum flavum posteriorly (C2 : arrow head).

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  Fig. 5 Black oxidized HGA pigmentation (long arrow) is found in the ligamentum flavum between the C2 (arrowhead)–3 lamina.

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  Fig. 6 A and B : The X-ray picture of the laminoplasty procedure postoperatively, which shows the artificial wedged coral bone interposition from the C4 to the C6.

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