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Abstract：
Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature. In addition, the disproportionate growth of the trachea can lead to airway insufficiency. We report the case of a 27-year-old man with dwarfism due to Morquio disease, which had resulted in quadriparesis, hyperreflexia, and dyspnea, requiring a \"look up to the sky\" compensatory position. Imaging studies of the neck showed tracheal tortuosity, spinal stenosis, myelopathy, and neurogenic arthropathy (Charcot joint). The patient was treated with occipital-cervical-thoracic instrumentation. However, postoperative tracheal correction was required. Considering the wide spectrum of clinical features in those with mucopolysaccharidosis type IVA, individualized multidisciplinary treatment is recommended.
摘要：
Morquio病或IVA型粘多糖贮积症（曼号在线孟德尔遗传。253000）是一种罕见的常染色体隐性遗传疾病，归类为代谢先天性错误。糖胺聚糖在软骨细胞中积累，扰乱骨骼生长并导致骨骼表现，如骨骼发育不良和身材矮小。此外,气管不成比例的生长会导致气道功能不全。我们报道了一名27岁男子因Morquio病患有侏儒症的病例，导致四肢瘫痪，反射亢进,呼吸困难,需要一个“仰望天空”的补偿位置。颈部影像学检查显示气管弯曲,椎管狭窄,脊髓病,和神经源性关节病（Charcot关节）。患者接受了枕-颈-胸器械治疗。然而,术后需要进行气管矫正。考虑到IVA型粘多糖贮积症患者的广泛临床特征，建议个体化多学科治疗。
