Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature

J Neurosurg. 2002 Jan;96(1 Suppl):112-7. doi: 10.3171/spi.2002.96.1.0112.

Abstract

Dyggve-Melchior-Clausen (DMC) syndrome is a very rare disease. Only 58 cases have been reported in the literature. The syndrome is probably an autosomal recessive inherited disorder, one that is characterized by mental retardation, the short-spine type of dwarfism, and skeletal abnormalities, especially of the spine, hands, and pelvis. Atlantoaxial instability-induced spinal cord compression is a serious and preventable complication. The purpose of this report is to describe the first case of DMC syndrome in which anterior transarticular atlantoaxial screw fixation was used to treat atlantoaxial instability. The authors report on a 17-year-old man with DMC syndrome and concomitant severe atlantoaxial instability. Computerized tomography scanning and magnetic resonance angiography demonstrated an irregular course of the vertebral artery (VA) at C-2, which made a posterior fixation procedure impossible. Additionally, transoral fusion was impossible because the patient was unable to open his mouth sufficiently. Therefore, the patient underwent anterior transarticular screw fixation. Follow-up examination 36 weeks after surgery showed solid fusion without implant failure. In conclusion, treatment of atlantoaxial instability in DMC syndrome must be considered. Specific care must be taken to determine the course of the VA. If posterior and transoral fusion are impossible, anterior transarticular atlantoaxial screw fixation might be the only alternative.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Atlanto-Axial Joint / abnormalities*
  • Atlanto-Axial Joint / pathology
  • Atlanto-Axial Joint / surgery
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Bone Diseases, Developmental / surgery
  • Bone Screws
  • Chromosome Aberrations
  • Diagnostic Imaging
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Dwarfism / pathology
  • Dwarfism / surgery
  • Genes, Recessive
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Joint Instability / diagnosis
  • Joint Instability / genetics*
  • Joint Instability / pathology
  • Joint Instability / surgery
  • Male
  • Spinal Cord Compression / diagnosis
  • Spinal Cord Compression / genetics
  • Spinal Cord Compression / pathology
  • Spinal Cord Compression / surgery
  • Syndrome