Abstract：
Alkaptonuria is a rare inborn disorder of phenylalanine and tyrosine metabolism. It is characterized by an accumulation of homogentisic acid and its oxidation products, possibly resulting into connective tissue damaging. \"Ochronosis\" is a main feature, which is characterized by tissue discoloration and even alkaptonuric arthropathy. Cervical spine involvement is exceptional and there is a paucity of reports on surgical interventions in these patients. We explored the literature concerning cervical spine involvement in patients with alkaptonuria.
We performed a review of the literature, in which patients with alkaptonuric degenerative changes of the cervical spine were examined. Articles were obtained from MEDLINE. Search terms included: \"cervical\", \"alkaptonuria\", \"alkaptonuric changes\" and \"black disc\". Additional studies were identified by checking reference lists. Furthermore, we present the case of a 46 year old patient with critical cervical spinal canal stenosis who underwent C6-C7 anterior cervical microdiscectomy and interbody fusion, in order to prevent myelopathic changes. CARE statement guidelines were followed.
Peroperatively, we did not encounter any macroscopic abnormalities of the skin, muscles or ligaments. A black discoloration of the nucleus pulposus was observed. Peroperative and postoperative course was uneventful.
Alkaptonuric degenerative abnormalities most commonly involve the lumbar spine, although the cervical spine can be affected in rare cases. Most frequently, the diagnosis of alkaptonuria can be made based on the clinical phenotype many years before symptoms secondary to ochronotic arthropathy develop. A retrospective diagnosis based on peroperative black discoloration of spinal structures has been described. A black discoloration of the intervertebral disc should encourage the neurosurgeon to further explore the possibility of alkaptonuria, even in the absence of a clear phenotype. Surgical results are mostly satisfactory. Further studies are required in order to better understand this pathology and its postoperative course.
We performed a review of the literature, in which patients with alkaptonuric degenerative changes of the cervical spine were examined. Articles were obtained from MEDLINE. Search terms included: \"cervical\", \"alkaptonuria\", \"alkaptonuric changes\" and \"black disc\". Additional studies were identified by checking reference lists. Furthermore, we present the case of a 46 year old patient with critical cervical spinal canal stenosis who underwent C6-C7 anterior cervical microdiscectomy and interbody fusion, in order to prevent myelopathic changes. CARE statement guidelines were followed.
Peroperatively, we did not encounter any macroscopic abnormalities of the skin, muscles or ligaments. A black discoloration of the nucleus pulposus was observed. Peroperative and postoperative course was uneventful.
Alkaptonuric degenerative abnormalities most commonly involve the lumbar spine, although the cervical spine can be affected in rare cases. Most frequently, the diagnosis of alkaptonuria can be made based on the clinical phenotype many years before symptoms secondary to ochronotic arthropathy develop. A retrospective diagnosis based on peroperative black discoloration of spinal structures has been described. A black discoloration of the intervertebral disc should encourage the neurosurgeon to further explore the possibility of alkaptonuria, even in the absence of a clear phenotype. Surgical results are mostly satisfactory. Further studies are required in order to better understand this pathology and its postoperative course.
摘要：
目的：碱尿症是一种罕见的先天性苯丙氨酸和酪氨酸代谢疾病。它的特征是均质酸及其氧化产物的积累，可能导致结缔组织损伤。“年代久远”是一个主要特征，其特征是组织变色，甚至是alkaptonuotic关节病。颈椎受累是特殊的，这些患者的手术干预报告很少。我们探索了有关alkaptonuria患者颈椎受累的文献。
方法：我们对文献进行了综述，其中检查了患有颈椎alkaptonotic退行性改变的患者。文章从MEDLINE获得。搜索词包括：\“宫颈\”，“alkaptonuria”，\"alkaptonurioches\"和\"黑碟\"。通过检查参考列表确定了其他研究。此外，我们介绍了一名46岁的严重颈椎管狭窄患者，该患者接受了C6-C7颈前路显微椎间盘切除术和椎间融合术，以防止脊髓病变。遵循CARE声明准则。
结果：手术，我们没有遇到任何肉眼可见的皮肤异常，肌肉或韧带。观察到髓核的黑色变色。围手术期和术后病程顺利。
结论：Alkaptonuary退行性异常最常见于腰椎，尽管在极少数情况下颈椎会受到影响。大多数情况下,可以根据慢性关节病继发症状发生多年前的临床表型来诊断。已经描述了基于脊柱结构的术中黑色变色的回顾性诊断。椎间盘的黑色变色应该鼓励神经外科医生进一步探索碱性尿症的可能性，即使没有明确的表型。手术效果大多令人满意。为了更好地了解这种病理及其术后过程，需要进一步的研究。
方法：我们对文献进行了综述，其中检查了患有颈椎alkaptonotic退行性改变的患者。文章从MEDLINE获得。搜索词包括：\“宫颈\”，“alkaptonuria”，\"alkaptonurioches\"和\"黑碟\"。通过检查参考列表确定了其他研究。此外，我们介绍了一名46岁的严重颈椎管狭窄患者，该患者接受了C6-C7颈前路显微椎间盘切除术和椎间融合术，以防止脊髓病变。遵循CARE声明准则。
结果：手术，我们没有遇到任何肉眼可见的皮肤异常，肌肉或韧带。观察到髓核的黑色变色。围手术期和术后病程顺利。
结论：Alkaptonuary退行性异常最常见于腰椎，尽管在极少数情况下颈椎会受到影响。大多数情况下,可以根据慢性关节病继发症状发生多年前的临床表型来诊断。已经描述了基于脊柱结构的术中黑色变色的回顾性诊断。椎间盘的黑色变色应该鼓励神经外科医生进一步探索碱性尿症的可能性，即使没有明确的表型。手术效果大多令人满意。为了更好地了解这种病理及其术后过程，需要进一步的研究。
