Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
권호 표지
DOI QR코드

DOI QR Code

Torticollis Management Using the Customized Soft Neck Collar in CATCH 22 Syndrome Combined with Klippel-Feil Anomaly: A Case Report

  • Moon, Myung-Hoon (Department of Rehabilitation Medicine, Pusan National University School of Medicine and Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital) ;
  • Kim, Soo-Yeon (Department of Rehabilitation Medicine, Pusan National University School of Medicine and Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital)
  • Received : 2019.09.16
  • Accepted : 2019.10.28
  • Published : 2019.10.31
Download PDF
⟨ Previous Next ⟩

Abstract

CATCH 22 syndrome is rare genetic disease that has various manifestations. Cervical vertebral anomaly, such as Klippel-Feil anomaly, is frequently observed in the patients with CATCH22 syndrome. We present the case of an 11-year-old female patient with CATCH22 syndrome and Klippel-Feil anomaly who had been treated torticollis using the customized soft neck collar. During the patient's first visit to our clinic, she presented with low ear set, skull deformity, intellectual disability, and tilting of the head to the left by approximately 25 degrees. Imaging studies revealed multisegmental fusion and C3 hemivertebrae of the cervical spine and left thoracic scoliosis at T4 with 50 degrees of Cobb's angle. We instructed passive stretching and applied the customized soft neck collar we invented. The ipsilateral aspect of the neck collar is designed to provide vertical support between the clavicle and mandibular angle and is adjustable in height. The Velcro was attached to the neck collar at the point of contact with the ipsilesional mandibular angle, which provides negative sensory feedback, inducing her to tilt neck to the contralesional side. We applied the neck collar for 2 hours a day. After 1 year of treatment, her neck inclination angle improved from 25 to 10 degrees. Providing negative sensory feedback using the customized soft neck collar can be one of the treatment options of postural management in patients with torticollis in cases of CATCH 22 syndrome combined with Klippel-Feil anomaly.

Keywords

References

  1. Yamagishi H. The 22q11. 2 deletion syndrome. The Keio Journal of Medicine 2002;51(2):77-88. https://doi.org/10.2302/kjm.51.77
  2. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet 2000;9(16):2421-6. https://doi.org/10.1093/hmg/9.16.2421
  3. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M et al. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997;34(6):453-8. https://doi.org/10.1136/jmg.34.6.453
  4. Klippel M, Feil A. A case of absence of cervical vertebrae with the thoracic cage rising to the base of the cranium (cervical thoracic cage). Clinical Orthopaedics and Related Research (1976-2007) 1975;109:3-8. https://doi.org/10.1097/00003086-197506000-00002
  5. Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine (Phila Pa 1976) 1997;22(4):396-401. https://doi.org/10.1097/00007632-199702150-00008
  6. Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. The Spine Journal 2005;5(5):564-76. https://doi.org/10.1016/j.spinee.2004.10.044
  7. Nagib MG, Maxwell RE, Chou SN. Klippel-Feil syndrome in children: clinical features and management. Childs Nerv Syst 1985;1(5):255-63. https://doi.org/10.1007/BF00272022
  8. Ming JE, McDonald‐McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, et al. Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet 1997;72(2):210-5. https://doi.org/10.1002/(SICI)1096-8628(19971017)72:2<210::AID-AJMG16>3.0.CO;2-Q
  9. Ricchetti ET, Hosalkar HS, Tamai J, Maisenbacher M, McDonald-McGinn DM, Zackai EH, et al. Radiographic study of the upper cervical spine in the 22q11. 2 deletion syndrome. JBJS 2004;86(8):1751-60. https://doi.org/10.2106/00004623-200408000-00020
  10. Clarke R, Catalan G, Diwan AD, Kearsley JH. Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol 1998;28(12):967-74. https://doi.org/10.1007/s002470050511
  11. McMaster MJ, Ohtsuka K. The natural history of congenital scoliosis. A study of two hundred and fifty-one patients. JBJS 1982;64(8):1128-47. https://doi.org/10.2106/00004623-198264080-00003
  12. Hedequist D, Emans J. Congenital scoliosis: a review and update. Journal of Pediatric Orthopaedics 2007;27(1):106-16. https://doi.org/10.1097/BPO.0b013e31802b4993
  13. Negrini S, Donzelli S, Aulisa AG, Czaprowski D, Schreiber S, de Mauroy JC, et al. 2016 SOSORT guidelines: orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth. Scoliosis and Spinal Disorders 2018;13(1):3. https://doi.org/10.1186/s13013-017-0145-8
  14. Winter RB, Moe JH, MacEWEN GD, Peon-vidales H. The Milwaukee brace in the nonoperative treatment of congenital scoliosis. Spine (Phila Pa 1976) 1976;1(2):85-96. https://doi.org/10.1097/00007632-197606000-00001
  15. Hedequist D, Emans J. Congenital scoliosis. JAAOS-Journal of the American Academy of Orthopaedic Surgeons 2004;12(4):266-75. https://doi.org/10.5435/00124635-200407000-00007