Ding Hong, Wang Liang, Feng Gan-Jun, Song Yue-Ming, Liu Li-Min
Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.
Front Surg. 2023 Jan 6;9:1040715. doi: 10.3389/fsurg.2022.1040715. eCollection 2022.
Alkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease. However, this is the first report of the presentation of thoracolumbar spinal stenosis.
We report the case of a 61-year-old female patient with significant thoracolumbar stenosis symptoms. The patient had obvious kyphosis with preoperative lower extremity muscle strength grade 2/5. Symptoms and imaging signs initially suggested ankylosing spondylitis. This patient was classified into motor incomplete injury (ASIA C). However, the patient was found to have melanin deposits on the sclera and skin, and the urine was darkened at rest. CT and MRI both suggested no bone bridge connection between vertebrae, which was the key difference between ankylosing spondylitis and alkaptonuria in imaging. Most importantly, urine specimen testing and intraoperative pathology demonstrated alkaptonuria. The patient underwent spinal decompression and vertebral body fixation. Postoperative recovery was good: the patient had significantly relieved pain and could stand and walk.
This case is the first report of thoracolumbar spinal stenosis associated with alkaptonuria involving the spine.
黑尿症是一种罕见的常染色体遗传病，年发病率约为百万分之一。脊柱受累通常在疾病后期出现。然而，这是首例关于胸腰椎管狭窄症表现的报告。
我们报告一例61岁女性患者，有明显的胸腰椎管狭窄症状。患者术前有明显驼背，下肢肌力为2/5级。症状和影像学表现最初提示强直性脊柱炎。该患者被分类为运动不完全损伤（美国脊髓损伤协会C级）。然而，发现患者巩膜和皮肤有黑色素沉着，静息时尿液变黑。CT和MRI均提示椎体间无骨桥连接，这是强直性脊柱炎与黑尿症在影像学上的关键区别。最重要的是，尿液标本检测和术中病理证实为黑尿症。患者接受了脊柱减压和椎体固定术。术后恢复良好：患者疼痛明显缓解，能够站立和行走。
该病例是首例与累及脊柱的黑尿症相关的胸腰椎管狭窄症报告。
