Norio Yamamoto1, Takaaki Miki2, Yoshihisa Nasu3, Akihiro Nishiyama2, Tomoyuki Dan'ura2, Yuzuru Matsui2, Toshifumi Ozaki4. 1. Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan. norio-yamamoto@umin.ac.jp. 2. Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan. 3. Department of Medical Materials for Musculoskeletal Reconstruction, Graduate School of Medicine, Density and Pharmaceutical Sciences, Okayama University, Okayama, Japan. 4. Department of Orthopaedic Surgery, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
Abstract
PURPOSE: We report a rare Japanese female who was affected with three genetic-linked diseases: double-level cervical bilateral spondylolysis in association with spina bifida occulta, cleft lip and monostotic fibrous dysplasia of the right proximal femur. The case was considered to be congenital in origin. We also review the pertinent literature of cervical spondylolysis, with a focus on the pathogenesis of multiple-level cervical spondylolysis. METHODS: A 40-year-old female presented with progressive clumsiness and numbness of the hands. Japanese Orthopedic Association (JOA) score for the cervical spine was 14.5. Plain radiographs of the cervical spine showed bilateral spondylolysis of the articular mass portion, with an adjacent dysplastic change and spina bifida occulta of C4 and C5. Cervical laminoplasty from C4 to C6 was performed. RESULTS: The postoperative course was uneventful, and the patient had some recovery of muscle power and sensation, with JOA score improving to 15.5. At the 8-year follow-up, the patient had no recurrence of symptoms, but did show kyphotic and degenerative changes at the C4/5 and C5/6 level with no apparent instability. CONCLUSIONS: This case is a rare presentation of bilateral cervical spondylolysis involving C4 and C5, presumably congenital, accompanied by combined dysplastic changes of the cervical spine, cleft lip, and fibrous dysplasia, possibly through an error involving an ossification center during the embryonic stage.
PURPOSE: We report a rare Japanese female who was affected with three genetic-linked diseases: double-level cervical bilateral spondylolysis in association with spina bifida occulta, cleft lip and monostotic fibrous dysplasia of the right proximal femur. The case was considered to be congenital in origin. We also review the pertinent literature of cervical spondylolysis, with a focus on the pathogenesis of multiple-level cervical spondylolysis. METHODS: A 40-year-old female presented with progressive clumsiness and numbness of the hands. Japanese Orthopedic Association (JOA) score for the cervical spine was 14.5. Plain radiographs of the cervical spine showed bilateral spondylolysis of the articular mass portion, with an adjacent dysplastic change and spina bifida occulta of C4 and C5. Cervical laminoplasty from C4 to C6 was performed. RESULTS: The postoperative course was uneventful, and the patient had some recovery of muscle power and sensation, with JOA score improving to 15.5. At the 8-year follow-up, the patient had no recurrence of symptoms, but did show kyphotic and degenerative changes at the C4/5 and C5/6 level with no apparent instability. CONCLUSIONS: This case is a rare presentation of bilateral cervical spondylolysis involving C4 and C5, presumably congenital, accompanied by combined dysplastic changes of the cervical spine, cleft lip, and fibrous dysplasia, possibly through an error involving an ossification center during the embryonic stage.
Authors: Yusuke Nishimura; Michael John Ellis; Jennifer Anderson; Masahito Hara; Atsushi Natsume; Howard Joeseph Ginsberg Journal: Neurol Med Chir (Tokyo) Date: 2014-02-28 Impact factor: 1.742