Abstract
Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked skeletal disorder affecting the spine and long bones, leading to short stature, spinal deformities, and joint stiffness. It is caused by genetic mutations, and primarily affects males. Diagnosis is confirmed by imaging and genetic testing. We report the case of a 33 years old patient with a history of X-linked SEDT, who presented with pain in the lower limbs and pelvis, accompanied by limited mobility. Bone scan with 99mTc-methylene diphosphonate (MDP) revealed a polyostotic SEDT involvement, periarticular ossifications, and bony bridges in the active phase. The authors highlight the role of bone scan with 99mTc-MDP in diagnosing this rare disease.
Keywords:
Bone scan, 99mTc-MDP, spondyloepiphyseal dysplasia tarda, polyostotic involvement
Ethics
Informed Consent: Informed consent was obtained from the patient.
Authorship Contributions
Surgical and Medical Practices: I.Z., Concept: I.Z., S.O.N., M.A., A.D., Data Collection or Processing: I.Z., S.O.N., A.D., Analysis or Interpretation: I.Z., M.A., Literature Search: I.Z., S.O.N., M.A., Y.B., O.A.S., A.D., Writing: I.Z., S.O.N., A.D.
Conflict of Interest: No conflicts of interest were declared by the authors.
Financial Disclosure: The authors declare that this study has received no financial support.
References
1
Kocyigit H, Arkun R, Ozkinay F, Cogulu O, Hizli N, Memis A. Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Clin Rheumatol. 2000;19:238-241.
2
Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 2014;6:808-825.
3
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68:1386-1397.
4
Yang F, Xu HQ, Li CL, Yang JG. Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. Clin Nucl Med. 2012;37:193-195.
