Turkish Neurosurgery 2020 , Vol 30 , Num 6
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome
Abhidha SHAH1,Sagar BHAMBERE1,Shashi RANJAN1,Saswat DANDPAT1,Atul GOEL1
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

Corresponding author : Atul GOEL, atulgoel62@hotmail.com