Faculty of Life Sciences and Medicine, King's College London, London, UK.
Department of Orthopedic Surgery, The Johns Hopkins University, Baltimore, MD.
Spine (Phila Pa 1976). 2019 Jan 1;44(1):E53-E59. doi: 10.1097/BRS.0000000000002755.
Case report and literature review.
To characterize the rare presentation of myelopathy occurring secondary to alkaptonuria and to evaluate the available evidence regarding its treatment.
Alkaptonuria is an autosomal recessive genetic condition with an estimated incidence of 1 in 250,000 to 1 in 1,000,000 people. Mutation of the enzyme homogentisate 1,2-dioxygenase leads to the production of high levels of homogentisic acid, with subsequent deposition in ligaments, cartilage, and menisci. Involvement of the spine is termed "ochronotic spondyloarthropathy," of which myelopathy is an uncommon presentation.
We present the case of a 57-year-old man with alkaptonuria-associated myelopathy, who underwent surgical decompression. Ten additional cases were identified in the literature by a systematic search of PubMed and Google Scholar.
In a patient presenting with myelopathy, alkaptonuria may be suspected because of medical history, family history, symptoms (including darkened urine, pigmented ear cartilage, and sclera), or radiographic changes, such as multilevel disc collapse, progressive wafer-like disc calcification, extensive osteophyte formation, and spinal deformity. The diagnosis can be confirmed by urine homogentisic acid testing. Of the 11 patients presented here or identified in the literature, 2 were treated nonoperatively, 8 were treated with decompressive spinal surgery, and treatment of the myelopathy was not discussed for 1 patient. In all cases in which outcomes were reported, substantial improvement in the patient's condition was seen.
Alkaptonuria is a rare cause of myelopathy, but one that clinicians should understand. Although no disease-modifying treatment currently exists for alkaptonuria, the use of symptomatic treatments and, particularly, surgical decompression is recommended to address myelopathy if it develops.
病例报告和文献回顾。
描述由尿黑酸尿症引起的罕见的脊髓病表现，并评估其治疗方法的现有证据。
尿黑酸尿症是一种常染色体隐性遗传疾病，估计发病率为每 25 万至 100 万人中有 1 例。该酶的同源异构酶 1,2-二加氧酶的突变导致高浓度的尿黑酸的产生，随后在韧带、软骨和半月板中沉积。脊柱受累被称为“黑尿酸关节病”，其中脊髓病是一种不常见的表现。
我们报告了一例 57 岁的尿黑酸尿症相关脊髓病患者，该患者接受了手术减压。通过对 PubMed 和 Google Scholar 的系统搜索，在文献中还发现了另外 10 例病例。
在出现脊髓病的患者中，由于病史、家族史、症状（包括深色尿液、色素性耳软骨和巩膜）或放射学改变（如多个水平椎间盘塌陷、进行性薄片状椎间盘钙化、广泛的骨赘形成和脊柱畸形），可能怀疑为尿黑酸尿症。通过尿液尿黑酸测试可以确诊。在这里介绍或在文献中发现的 11 例患者中，2 例接受非手术治疗，8 例接受减压脊柱手术，1 例未讨论对脊髓病的治疗。在所有报告了结果的病例中，患者的病情都有了显著改善。
尿黑酸尿症是一种罕见的脊髓病病因，但临床医生应该了解。尽管目前没有针对尿黑酸尿症的疾病修饰治疗方法，但如果发生脊髓病，建议使用对症治疗，特别是手术减压。
4 级。
