Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, England.
Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, England.
World Neurosurg. 2024 May;185:89-90. doi: 10.1016/j.wneu.2024.02.006. Epub 2024 Feb 9.
Mucopolysaccharidosis type IVA is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase. Mucopolysaccharidosis type IVA is multisystemic disease with significant spinal involvement and atlantoaxial instability leading to neural compression and significant morbidity. Dens hypoplasia is a common feature of this condition. In this study we demonstrate that after spinal fixation, there is new growth of dens in significant proportion of patients, suggesting atlantoaxial instability as one of the major driving forces of lack of development of dens in this condition.
黏多糖贮积症 IVA 是一种溶酶体贮积病，由 N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶缺乏引起。黏多糖贮积症 IVA 是一种多系统疾病，脊柱受累明显，寰枢椎不稳定导致神经受压，发病率高。齿状突发育不良是这种情况的常见特征。在这项研究中，我们证明在脊柱固定后，相当一部分患者的齿状突有新的生长，提示寰枢椎不稳定是导致这种情况齿状突发育不良的主要因素之一。
