Department of Orthopedics and Rehabilitation, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Iowa Orthop J. 2022;42(2):122-127.
Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by abnormal deposition of glycosaminoglycans (GAGs) in tissues. In type VI MPS, otherwise known as Maroteaux-Lamy syndrome, the defect is in the enzyme N-acetylgalactosamine-4-sulfatase. Thoracolumbar kyphosis results from GAG deposition, leading to incompetence of posterior ligamentous structures as well as poor trunk control. Though neurologic symptoms from canal compression due to deformity and hypertrophy of tissues have been described, occasionally requiring surgical decompression, there has not been a prior report of late onset of symptoms in a previously neurologically intact patient following surgery to correct spine deformity.
The case reviewed is a 14 year old girl with mucopolysaccharidosis type VI underwent anterior release and posterior instrumentation for correction of severe progressive lumbar kyphosis. Postoperatively she developed delayed onset of profound lower extremity weakness and underwent urgent wide laminectomies and resection of thickened ligamentum flavum. At 1 year follow-up, she had near complete neurologic recovery.
Patients with mucopolysacchari-doses are at significant risk for neurologic compromise both as part of the natural history of the disease, and as a risk of deformity correction. The surgeon must consider the pathologic thickening of tissues surrounding the spinal cord when planning surgery. .
黏多糖贮积症（MPS）是一种溶酶体贮积病，其特征是组织中糖胺聚糖（GAG）异常沉积。在 6 型黏多糖贮积症（也称为 Maroteaux-Lamy 综合征）中，缺陷在于 N-乙酰半乳糖胺-4-硫酸酯酶。由于 GAG 沉积导致胸腰椎后凸，导致后韧带结构失能以及躯干控制能力差。尽管由于组织畸形和肥大导致的管腔压迫引起的神经症状已有描述，偶尔需要手术减压，但在先前神经功能完整的患者中，脊柱畸形矫正手术后出现症状迟发的情况尚无报道。
回顾的病例是一名 14 岁女孩，患有黏多糖贮积症 6 型，接受前路松解和后路器械固定以矫正严重的进行性腰椎后凸。术后她出现了迟发性严重下肢无力，并接受了紧急广泛椎板切除术和增厚的黄韧带切除术。在 1 年的随访中，她几乎完全恢复了神经功能。
黏多糖贮积症患者存在神经功能受损的风险，包括疾病自然史和畸形矫正的风险。在计划手术时，外科医生必须考虑围绕脊髓的组织病理性增厚。
