Issue release date: 12.11.2024
Turkish Neurosurgery
2020 , Vol 30 , Num 6
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome
1Seth G.S. Medical College and K.E.M Hospital, Department of Neurosurgery, Mumbai, India
DOI :
10.5137/1019-5149.JTN.31923-20.1
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.
Keywords : Dyggve-Melchior-Clausen syndrome, Atlantoaxial instability, Odontoid hypoplasia, Atlantoaxial fixation