title: Congenital double-level cervical spondylolysis: a case report and review of the literature.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.affiliation: Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan. norio-yamamoto@umin.ac.jp.
authors.forename: Norio
authors.identifier: 0000-0002-7902-9994
authors.initials: N
authors.lastname: Yamamoto
authors.affiliation: Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Miki
authors.affiliation: Department of Medical Materials for Musculoskeletal Reconstruction, Graduate School of Medicine, Density and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Nasu
authors.affiliation: Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Nishiyama
authors.affiliation: Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan.
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Dan'ura
authors.affiliation: Department of Orthopedic Surgery, Unnan City Hospital, 96-1 Daito-cho Iida, Unnan, Shimane, 699-1221, Japan.
authors.forename: Yuzuru
authors.initials: Y
authors.lastname: Matsui
authors.affiliation: Department of Orthopaedic Surgery, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Ozaki
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000601:surgery; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D005269:Femur / Q000473:pathology; D006801:Humans; D006965:Hyperplasia / Q000000981:diagnostic imaging; D065406:Laminoplasty; D008279:Magnetic Resonance Imaging; D011859:Radiography; D016136:Spina Bifida Occulta / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery; D013169:Spondylolysis / Q000151:congenital* / Q000000981:diagnostic imaging / Q000601:surgery; D014057:Tomography, X-Ray Computed
keywords: Cervical spondylolysis; Cleft lip; Congenital; Fibrous dysplasia; Multiple-level cervical spondylolysis