Ochronosis and lumbar disc herniation - A case report and literature review
Background: Alkaptonuria (AKU) is a rare autosomal recessive disease characterized by a deficiency in an enzyme involved in the tyrosine and phenylalanine degradation. Patients suffering from this disorder develop a black coloration of cartilages known as ochronosis, leading to debilitating cartilag...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-06-01
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| Series: | Interdisciplinary Neurosurgery |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214751923002190 |
| _version_ | 1827316601456689152 |
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| author | Felipe Ramirez-Velandia John Breton Silvia Monroy Silvia Clavijo Ivan Dario Ramírez Giraldo |
| author_facet | Felipe Ramirez-Velandia John Breton Silvia Monroy Silvia Clavijo Ivan Dario Ramírez Giraldo |
| author_sort | Felipe Ramirez-Velandia |
| collection | DOAJ |
| description | Background: Alkaptonuria (AKU) is a rare autosomal recessive disease characterized by a deficiency in an enzyme involved in the tyrosine and phenylalanine degradation. Patients suffering from this disorder develop a black coloration of cartilages known as ochronosis, leading to debilitating cartilage and arthritis at early ages. The spine is commonly involved but reports of lumbar disc disease are rare. Methods: We present a case of a lumbar disc herniation secondary to ochronosis, and we also provide a comparative analysis with other cases documented in the literature. For the literature search we selected manuscripts published in PubMed, Embase, Scopus, Ovid, and Science Direct between 1963 and 2022. Results: The mean age of the 25 included patients was 44.2 years (range: 22–69), and most of them were males (n = 19). The most common presentations were back pain and leg pain (n = 10), followed by lumbar radiculopathy (n = 9). Cauda equina syndrome (n = 2), thoracic myelopathy (n = 2), and cervical radiculopathy (n = 1) were less frequently observed. The lumbar region was the most affected area, with L4-L5 being the most affected level (n = 7), followed by L5-S1 (n = 4). Conclusion: AKU can lead to ochronotic spondyloarthropathy and, rarely, disc herniation, particularly in the lower lumbar region. Surgeons should note that black cartilage during a discectomy indicates likely ochronotic disc involvement. Diagnosis requires histopathologic and biochemical analyses of blood and urine, usually done retrospectively. Genetic confirmation is crucial due to the multisystem nature of alkaptonuria. Our case contributes to the literature on this rare condition, emphasizing the need for comprehensive diagnostics. |
| first_indexed | 2024-03-09T01:34:15Z |
| format | Article |
| id | doaj.art-669982ec894d43a6882c859a8ba571c7 |
| institution | Directory Open Access Journal |
| issn | 2214-7519 |
| language | English |
| last_indexed | 2024-04-24T23:17:16Z |
| publishDate | 2024-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Interdisciplinary Neurosurgery |
| spelling | doaj.art-669982ec894d43a6882c859a8ba571c72024-03-17T07:54:17ZengElsevierInterdisciplinary Neurosurgery2214-75192024-06-0136101936Ochronosis and lumbar disc herniation - A case report and literature reviewFelipe Ramirez-Velandia0John Breton1Silvia Monroy2Silvia Clavijo3Ivan Dario Ramírez Giraldo4Department of Neurological Surgery, Pontificia Universidad Javeriana, Bogotá́ D.C., Colombia; Corresponding author at: Pontificia Universidad Javeriana, Cra. 7, Bogotá́ D.C., Colombia.Department of Neurological Surgery, Clinica Chicamocha, Bucaramanga, Santander, ColombiaDepartment of Pathology, Clinica Chicamocha, Bucaramanga, Santander, ColombiaDepartment of Neurological Surgery, Pontificia Universidad Javeriana, Bogotá́ D.C., ColombiaDepartment of Neurological Surgery, Clinica Chicamocha, Bucaramanga, Santander, ColombiaBackground: Alkaptonuria (AKU) is a rare autosomal recessive disease characterized by a deficiency in an enzyme involved in the tyrosine and phenylalanine degradation. Patients suffering from this disorder develop a black coloration of cartilages known as ochronosis, leading to debilitating cartilage and arthritis at early ages. The spine is commonly involved but reports of lumbar disc disease are rare. Methods: We present a case of a lumbar disc herniation secondary to ochronosis, and we also provide a comparative analysis with other cases documented in the literature. For the literature search we selected manuscripts published in PubMed, Embase, Scopus, Ovid, and Science Direct between 1963 and 2022. Results: The mean age of the 25 included patients was 44.2 years (range: 22–69), and most of them were males (n = 19). The most common presentations were back pain and leg pain (n = 10), followed by lumbar radiculopathy (n = 9). Cauda equina syndrome (n = 2), thoracic myelopathy (n = 2), and cervical radiculopathy (n = 1) were less frequently observed. The lumbar region was the most affected area, with L4-L5 being the most affected level (n = 7), followed by L5-S1 (n = 4). Conclusion: AKU can lead to ochronotic spondyloarthropathy and, rarely, disc herniation, particularly in the lower lumbar region. Surgeons should note that black cartilage during a discectomy indicates likely ochronotic disc involvement. Diagnosis requires histopathologic and biochemical analyses of blood and urine, usually done retrospectively. Genetic confirmation is crucial due to the multisystem nature of alkaptonuria. Our case contributes to the literature on this rare condition, emphasizing the need for comprehensive diagnostics.http://www.sciencedirect.com/science/article/pii/S2214751923002190AlkaptonuriaBlack discHerniated DiskOchronosisSpondylosis |
| spellingShingle | Felipe Ramirez-Velandia John Breton Silvia Monroy Silvia Clavijo Ivan Dario Ramírez Giraldo Ochronosis and lumbar disc herniation - A case report and literature review Interdisciplinary Neurosurgery Alkaptonuria Black disc Herniated Disk Ochronosis Spondylosis |
| title | Ochronosis and lumbar disc herniation - A case report and literature review |
| title_full | Ochronosis and lumbar disc herniation - A case report and literature review |
| title_fullStr | Ochronosis and lumbar disc herniation - A case report and literature review |
| title_full_unstemmed | Ochronosis and lumbar disc herniation - A case report and literature review |
| title_short | Ochronosis and lumbar disc herniation - A case report and literature review |
| title_sort | ochronosis and lumbar disc herniation a case report and literature review |
| topic | Alkaptonuria Black disc Herniated Disk Ochronosis Spondylosis |
| url | http://www.sciencedirect.com/science/article/pii/S2214751923002190 |
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