title: Skeletal dysplasia involving the subaxial cervical spine. Report of two cases and review of the literature.
abstract: Because skeletal dysplasias are primary disorders of bone, they have not been commonly understood as neurosurgical diseases. Nevertheless, neurosurgical complications are commonly encountered in many cases of dysplasia syndromes. The authors present two cases of skeletal dysplasia that caused overt instability of the cervical spine. One patient with a diagnosis of Gorham disease of the cervical spine was treated with prolonged fixation in a halo brace after an initial attempt at instrumentation with a posterior occiput--C4 fusion. The other patient, who at birth was identified to have camptomelic dysplasia, has been treated conservatively from the outset. Although these two patients presented with different disorders--in one patient adequate mature bone never formed and in the other patient progressive bone loss became apparent after a seemingly normal initial development--these cases demonstrate unequivocally that surgical options for fusion are ultimately limited by the quality of the underlying bone. In patients in whom the bone itself is inadequate for use as a substrate for fusion, there are currently limited treatment options. Future improvements in our understanding of chondrogenesis and ossification may lead to the design of superior methods of encouraging fusion in these patients; however, at the present time, long-term maintenance in a halo brace may, in fact, be the only treatment.
authors.affiliation: Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA.
authors.forename: Gregory P
authors.initials: GP
authors.lastname: Lekovic
authors.forename: Nitin R
authors.initials: NR
authors.lastname: Mariwalla
authors.forename: Eric M
authors.initials: EM
authors.lastname: Horn
authors.forename: Steven
authors.initials: S
authors.lastname: Chang
authors.forename: Harold L
authors.initials: HL
authors.lastname: Rekate
authors.forename: Nicholas
authors.initials: N
authors.lastname: Theodore
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications*; D001915:Braces; D002574:Cervical Vertebrae; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D007738:Kyphosis / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D010015:Osteolysis, Essential / Q000150:complications; D013122:Spinal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome