Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome

Özet

AIM: To discuss the rare association of atlantoaxial instability in patients with the Dyggve-Melchior-Clausen syndrome, a rare autosomal recessive disease characterized by progressive spondyloepimetaphyseal dysplasia and mild to severe mental retardation. MATERIAL and METHODS: We report an uncommon association of two siblings with Dyggve-Melchior-Clausen syndrome, odontoid hypoplasia and atlantoaxial instability. Both the patients were treated with Goel’s atlantoaxial fixation procedure.RESULTS: The patients had a remarkable neurological recovery following the stabilization procedure.CONCLUSION: Atlantoaxial instability is a potentially life-threatening condition in patients with this syndrome and should be treated early with atlantoaxial stabilization. Recognition and treatment of atlantoaxial instability in patients with Dyggve-Melchior-Clausen syndrome can give gratifying results.