Olgu Sunumu
BibTex RIS Kaynak Göster

Skolyozun Nadir Bir Nedeni: Brakiyolmia Tip 3

Yıl 2025, Cilt: 10 Sayı: 2, 43 - 45, 31.08.2025

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.

Kaynakça

  • 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. 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. 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. 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. 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. 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. 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. Kozlowski K. Platyspondyly in childhood. Pediatr Radiol. 1974 Jun;2(2):81-87.
  • 9. Gardner J, Beighton P. Brachyolmia: an autosomal dominant form. Am J Med Genet . 1994;49(3):308-312.
  • 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. 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. 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. 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. 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. BA M, A S, JE HF, CJ S. Autosomal Dominant TRPV4 Disorders. GeneReviews®. 1993
  • 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.

A Rare Cause of Scoliosis: Brachyolmia Type 3

Yıl 2025, Cilt: 10 Sayı: 2, 43 - 45, 31.08.2025

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.

Kaynakça

  • 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. 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. 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. 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. 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. 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. 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. Kozlowski K. Platyspondyly in childhood. Pediatr Radiol. 1974 Jun;2(2):81-87.
  • 9. Gardner J, Beighton P. Brachyolmia: an autosomal dominant form. Am J Med Genet . 1994;49(3):308-312.
  • 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. 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. 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. 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. 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. BA M, A S, JE HF, CJ S. Autosomal Dominant TRPV4 Disorders. GeneReviews®. 1993
  • 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.
Toplam 16 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri (Diğer)
Bölüm Olgu Sunumu
Yazarlar

Neslihan Yağmur Göz 0000-0002-9380-6016

Yayımlanma Tarihi 31 Ağustos 2025
Gönderilme Tarihi 19 Mayıs 2024
Kabul Tarihi 27 Nisan 2025
Yayımlandığı Sayı Yıl 2025 Cilt: 10 Sayı: 2

Kaynak Göster

Vancouver Yağmur Göz N. A Rare Cause of Scoliosis: Brachyolmia Type 3. JAMER. 2025;10(2):43-5.