Abstract
Klippel-Feil sendromu, servikal yapılarda normal segmentasyonun oluşmaması sonucu vertebralarda füzyonu da içeren bir sendromdur. Vakamızda nadir görülen bu sendromu tanımlamayı, görüntüleme tetkiklerindeki bulgularını göstermeyi ve önemini belirtmeyi amaçladık. Boyun ağrısı şikâyeti ile fakülte hastanemize başvuran 41 yaşındaki kadın hastanın çekilen servikal manyetik rezonans görüntülemesinde sagittal kesitlerde 2., 3. ve 4. vertabrae cervicales’in korpusları arasında füzyon ve anteroposterior çapta azalma ile aynı vertebraların arkusları arasında füzyon ile uyumlu görünüm tespit edildi. Vertebrae cervicales’in varyasyonlarını ve anomalilerini tanımlamak için kadavra çalışmalarından ve radyolojik tetkiklerden faydalanılır. Bilgisayarlı tomografi, vertebraların değerlendirmesinde daha sık kullanılsa da komşu yumuşak doku yapılarının ve vertebrae patolojilerine bağlı semptomların değerlendirilmesinde manyetik rezonans görüntüleme kullanılmaktadır. Klippel-feil sendromuna ait bulguların, eşlik eden anomalilerin ve risk faktörlerinin değerlendirilmesi için kullanılan bu görüntüleme metotları uygun tanı, takip ve tedavi için anatomist, radyolog, nöroşirurjist ve ortopedistler açısından gerekli ve faydalıdır.
References
- Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 1997;22(4):396-401.
- Tracy M, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;424:183-90.
- Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. Spine J. 2005;5(5):564-76.
- Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am. 1974;56(6):1246-53.
- Copley LA, Dormans JP. Cervical spine disorders in infants and children. J Am Acad Orthop Surg. 1998;6(4):204-14.
- Terzi R, Voyvada B, Terzi H, et al. Pelvic renal ectopia accompanying Klippel Feil syndrome diagnosed at a later age. Kocaeli Med J. 2012;1(2):26-30.
- Gunderson CH, Greenspan RH, Glaser GH, et al. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore). 1967;46(6):491-512.
- Samartzis D, Herman J, Lubicky JP, et al. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine. 2006;31(21):E798-E804.
- Ulmer JL, Elster AD, Ginsberg LE. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr. 1993;17(2):215-24.
- Hensinger RN. Orthopedic problems of the shoulder and neck. Pediatr Clin North Am. 1986;33(6):1495-509.
Abstract
Klippel-Feil syndrome is a condition characterized by fusion of the spine owing to the failure of normal segmentation of the cervical structures. In this case report, we aimed to describe this rare syndrome, show the findings of this syndrome using imaging techniques, and demonstrate its clinical importance. A 41-year-old female patient presented to our faculty hospital with neck pain. Using cervical magnetic resonance imaging, we observed a decreased anteroposterior diameter; fusion between the corpora of the 2nd, 3rd, and 4th cervical spine; and an appearance consistent with fusion between the arches of the same vertebrae in sagittal slices. Cadaver studies and radiology tests were performed to identify the variations and anomalies of the cervical spine. Although computed tomography scanning is more frequently performed for the purpose of evaluating spine, magnetic resonance imaging may be performed to evaluate the adjacent soft tissue structures and the symptoms associated with vertebral pathologies. These imaging modalities are necessary and beneficial for anatomists, radiologists, neurosurgeons, and orthopedists so that they may evaluate the findings, coexisting anomalies, and risk factors of Klippel-Feil syndrome in order to reach appropriate diagnosis, follow-up, and treatment.
References
- Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 1997;22(4):396-401.
- Tracy M, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;424:183-90.
- Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. Spine J. 2005;5(5):564-76.
- Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am. 1974;56(6):1246-53.
- Copley LA, Dormans JP. Cervical spine disorders in infants and children. J Am Acad Orthop Surg. 1998;6(4):204-14.
- Terzi R, Voyvada B, Terzi H, et al. Pelvic renal ectopia accompanying Klippel Feil syndrome diagnosed at a later age. Kocaeli Med J. 2012;1(2):26-30.
- Gunderson CH, Greenspan RH, Glaser GH, et al. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore). 1967;46(6):491-512.
- Samartzis D, Herman J, Lubicky JP, et al. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine. 2006;31(21):E798-E804.
- Ulmer JL, Elster AD, Ginsberg LE. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr. 1993;17(2):215-24.
- Hensinger RN. Orthopedic problems of the shoulder and neck. Pediatr Clin North Am. 1986;33(6):1495-509.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 25, 2021 |
| Acceptance Date | December 29, 2020 |
| Published in Issue | Year 2021 |