Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
Clin Neurol Neurosurg. 2024 Jul;242:108349. doi: 10.1016/j.clineuro.2024.108349. Epub 2024 May 22.
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.
尿黑酸尿症是一种罕见的苯丙氨酸和酪氨酸代谢先天性疾病。其特征是大量的同型苯乙酸和其氧化产物的积累，可能导致结缔组织损伤。“褐黄病”是一个主要特征，其特征是组织变色，甚至出现尿黑酸尿性关节病。颈椎受累是罕见的，并且关于这些患者的手术干预的报告很少。我们探讨了有关尿黑酸尿症患者颈椎受累的文献。
我们对文献进行了回顾，检查了患有尿黑酸尿性颈椎退行性改变的患者。文章从 MEDLINE 获得。搜索词包括：“颈椎”、“尿黑酸尿症”、“尿黑酸尿性改变”和“黑盘”。通过检查参考文献列表，还确定了其他研究。此外，我们还介绍了一位 46 岁的患者，该患者患有严重的颈椎椎管狭窄，行 C6-C7 前路颈椎显微切除术和椎间融合术，以预防脊髓病变化。遵循 CARE 声明指南。
术中未发现皮肤、肌肉或韧带的明显异常。观察到髓核的黑色变色。手术和术后过程均顺利。
尿黑酸尿性退行性异常最常累及腰椎，尽管颈椎在罕见情况下也可能受到影响。通常，在因 ochronotic 关节病而出现症状之前的许多年，就可以根据临床表型诊断出尿黑酸尿症。已经描述了基于脊柱结构术中黑色变色的回顾性诊断。椎间盘的黑色变色应鼓励神经外科医生进一步探索尿黑酸尿的可能性，即使没有明确的表型也是如此。手术结果大多令人满意。需要进一步研究以更好地了解这种病理及其术后过程。
