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Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion

Mohammed S. Alisi, Munther G. Al-Saber, Ahmed A. Abdulelah, Amer Alqaisi, Tareq M.A. Kanaan, Fadi Hadidi

(Department of Special Surgery, Division of Orthopaedics, School of Medicine, The University of Jordan, Amman, Jordan)

Am J Case Rep 2020; 21:e924575

DOI: 10.12659/AJCR.924575

BACKGROUND: Alkaptonuria (AKU) is a rare metabolic disease caused by a deficiency in homogentisic acid oxidase, which leads to the accumulation of homogentisic acid dark pigments in tissues such as bones, ligaments, and tendons. Long-term duration of this condition, termed ochronosis, can result in degenerative arthropathy involving the spine and large joints.
CASE REPORT: This report describes a 55-year-old Jordanian woman presenting with chronic neck and lower back pain. History, physical examination, and radiological imaging indicated cervical myelopathy and lumbar spine degeneration. Two-level anterior cervical discectomy and fusion was performed successfully. Intra-operatively, the cervical discs were observed to be black, suggesting a diagnosis of alkaptonuria, which was later confirmed by genetic testing. A detailed history and physical examination revealed the absence of classical features of AKU.
CONCLUSIONS: Intraoperative detection of black disc material suggests the need for further tests to diagnose AKU, especially in indolent patients who did not have classical clinical features. Surgical management may improve outcomes in patients with cervical myelopathy due to ochronosis.

Keywords: Alkaptonuria, Neck Pain, Ochronosis

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
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