Skolyozun Nadir Bir Nedeni: Brakiyolmia Tip 3

Öz

Brakiyolmia tip 3, omurganın eğriliğine, kifoza ve kronik omurga ağrısına neden olabilen nadir bir genetik sendromdur. Bu olgu sunumunda bel ağrısı şikayeti ile başvuran ve fizik muayenesinde skolyozu fark edilen hastanın anamnezinde iskelet displazisi izlendi. Şüphe, radyografik bulgulara dayanır ve kesin tanı genetik testlerle konur. Tedavide semptomların yönetimine yönelik bir rehabilitasyon programı oluşturulmalıdır. Tedavide skolyoz egzersizleri, nefes egzersizleri, postür egzersizleri ve analjezik elektroterapi akımları akılda tutulmalıdır.

Anahtar Kelimeler

• brakiolmiya
• rehabilitasyon
• skolyoz

A Rare Cause of Scoliosis: Brachyolmia Type 3

Öz

Brachiolmia type 3 is a rare genetic syndrome that can cause curvature of the spine, kyphosis, and chronic spine pain. In this case report, skeletal dysplasia was observed in the anamnesis of the patient who presented with low back pain and was noticed to have scoliosis during the physical examination. Suspicion is based on radiographic findings and definitive diagnosis is made by genetic testing. In treatment, a rehabilitation program should be created to manage the symptoms. Scoliosis exercises, breathing exercises, posture exercises and analgesic electrotherapy currents should be kept in mind in the treatment.

Anahtar Kelimeler

• Brachyolmia
• rehabilitation
• scoliosis

Kaynakça

1. 1. Shohat M, Lachman R, Gruber HE, Rimoin DL. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J Med Genet. 1989;33(2):209-219.
2. 2. Toft-Bertelsen TL, Macaulay N. TRPing to the Point of Clarity: Understanding the function of the complex TRPV4 Ion channel. cells. 2021 Jan 1;10(1):1-16.
3. 3. O’Conor CJ, Leddy HA, Benefield HC, Liedtke WB, Guilak F. TRPV4-mediated mechanotransduction regulates the metabolic response of chondrocytes to dynamic loading. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1316-1321.
4. 4. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug;40(8):999-1003.
5. 5. Wang Z, Zhou L, An D, Xu W, Wu C, Sha S, et al. TRPV4-induced inflammatory response is involved in neuronal death in pilocarpine model of temporal lobe epilepsy in mice. Cell Death & Disease 2019 10:6. 2019 May 16;10(6):1-10.
6. 6. Li AW, Chang A, Murphy JS, Li Y, Roye B, Hardesty CK, et al. Current practices in MRI screening in early onset scoliosis. Spine Deform. 2025; 13(3):961-966.
7. 7. Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A. 2014;164A(7):1635-1641.
8. 8. Kozlowski K. Platyspondyly in childhood. Pediatr Radiol. 1974 Jun;2(2):81-87.

9. 9. Gardner J, Beighton P. Brachyolmia: an autosomal dominant form. Am J Med Genet . 1994;49(3):308-312.
10. 10. Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A. 2014;164A(7):1635-1641.
11. 11. Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB. Autosomal dominant brachyolmia: transient metaphyseal striations. Skeletal Radiol. 2017 Sep 1 ;46(9):1297-300.
12. 12. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, et al. TRPV4-Associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. 2012; 160:190-204.
13. 13. Author MJR, Genet N. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia $watermark-text $watermark-text $watermark-text. 2008;40(8):999-1003.
14. 14. Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB. Autosomal dominant brachyolmia: transient metaphyseal striations. Skeletal Radiol. 2017 Sep 1;46(9):1297-1300.
15. 15. BA M, A S, JE HF, CJ S. Autosomal Dominant TRPV4 Disorders. GeneReviews®. 1993
16. 16. Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, et al. A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in LTBP3. 2021.