Department of Orthopedic Surgery, Toho University School of Medicine, Tokyo, Japan.
J Orthop Surg (Hong Kong). 2020 Jan-Apr;28(2):2309499020918424. doi: 10.1177/2309499020918424.
Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder. Here, we present the case of a 55-year-old male patient with Morquio syndrome who developed cervical myelopathy, which is an extremely rare condition in the older population. Myelopathy developed gradually with upper-limb paresthesia and clumsiness of both hands. The patient had a characteristic "gargoyle-like" coarse face with a trunk shortening-type short stature. Imaging of the cervical spine demonstrated several problems, including diminutive structures called platyspondyly with small pedicles and fragile bone quality, hypoplasia of the C1 posterior arch that migrated into the spinal canal, and os odontoideum with atlantoaxial instability. With intraoperative navigation guidance, posterior decompression of C1 followed by occipito-cervico-thoracic spinal fusion was successfully performed in this complicated case. Clinical and radiographic outcomes were both excellent and have been maintained for 2 years postoperatively.
黏多糖贮积症Ⅳ型(MPS IV)又称穆-勒-比综合征,是一种罕见的常染色体隐性遗传病,以骨骼发育不良、进行性智力减退和骨骼畸形为主要特征。由于颅颈交界区先天畸形,黏多糖贮积症Ⅳ型患者常于婴幼儿期即出现寰枢椎不稳,进而导致颈椎脊髓病。本研究报道了 1 例 55 岁男性黏多糖贮积症Ⅳ型患者,其逐渐出现双上肢麻木、双手笨拙等症状,诊断为颈椎脊髓病,这种疾病在老年人群中非常罕见。该患者具有典型的“滴水嘴兽样”粗糙面容、短躯干型侏儒,影像学检查发现存在多种异常,包括短小的脊柱(椎体扁平、椎弓根细小)、寰椎后弓发育不良(移位于椎管内)、齿状突缺如伴寰枢椎不稳等。术中采用导航辅助技术,成功为患者实施了 C1 后路减压联合枕颈胸后路脊柱融合术。患者术后恢复良好,随访 2 年,疗效满意。