Gorozhanin A V, Kuzin A V, Bludov A B, Radenska-Lopovok S G, Smirnov A V, Kuzin D A, Krylov A S
Botkin Moscow City Clinical Hospital, Moscow, Russia.
Russian Medical Academy of Continuing Professional Education, Moscow, Russia.
Zh Vopr Neirokhir Im N N Burdenko. 2021;85(5):104-109. doi: 10.17116/neiro202185051104.
Alkaptonuria is a rare autosomal recessive disease. In these patients, melanin-like compounds as the final products of impaired metabolism of homogentisic acid are deposited mainly in connective tissue, including cartilage tissue of intervertebral discs. Similar to other degenerative spine diseases, lumbar segment is often damaged. The authors report a 67-year-old patient with alkaptonuria. Compression of cauda equina by damaged cartilage masses of intervertebral discs and spine ligaments with deposits of ochronotic pigment is described. Previously diagnosed alkaptonuria in this patient was confirmed by surgical findings (black pigmentation) and histological data.
黑尿症是一种罕见的常染色体隐性疾病。在这些患者中，作为尿黑酸代谢受损的终产物的类黑色素化合物主要沉积在结缔组织中，包括椎间盘的软骨组织。与其他退行性脊柱疾病相似，腰椎段常受到损害。作者报告了一名67岁的黑尿症患者。描述了因椎间盘和脊柱韧带的受损软骨块沉积褐黄病色素而导致的马尾神经受压情况。该患者先前诊断的黑尿症通过手术所见（黑色色素沉着）和组织学数据得到了证实。
