Rofo 2003; 175(11): 1579-1581
DOI: 10.1055/s-2003-43395
Case report
© Georg Thieme Verlag Stuttgart · New York

Cervicothoracic Diastematomyelia with Klippel-Feil Syndrome

Zervikothorakale Diastematomyelie mit Klippel-Feil-SyndromM.  Palmers1 , P.  Peene1 , G.  Massa2
  • 1Department of Radiology
  • 2Department of Pediatrics, Virga Jesseziekenhuis, Stadsomvaart 11, B. 3500 Hasselt, Belgien
Further Information

Publication History

Publication Date:
10 November 2003 (online)

Introduction

Klippel-Feil syndrome is defined as the congenital fusion of two or more cervical vertebrae. Klippel-Feil syndrome can be asymptomatic but numerous associated anomalies, including malformations of the renal, cardiovascular, central nervous, urogenital, ocular, craniofacial, otolaryngeal and skeletal systems have been described [1] [2] [3] [4] [5] [6] [7] [8] [9]. Diastematomyelia is defined as a double cord malformation that mainly occurs in the lower thoracic and lumbar regions. Cervical examples are rare [4] [10] [11] [12]. We present the case of a 14-year old girl with Klippel-Feil syndrome and associated cervico-thoracic diastematomyelia, scoliosis and Sprengel's deformity with omovertebral bone.

References

  • 1 Clarke R A, Catalan G, Diwan A D, Kearsley J H. Heterogeneity in Klippel-Feil syndrome: a new classification.  Pediatr Radiol. 1998;  28 967-974
  • 2 Theiss S M, Smith M D, Winter R B. The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis.  Spine. 1997;  22 1219-1222
  • 3 Guille J T, Miller A, Bowen R, Forlin E, Caro P A. The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood.  J Pediatr Orthop. 1995;  15 617-626
  • 4 Ulmer J L, Elster A D, Ginsberg L E, Williams D W. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord.  J Comput Assist Tomogr. 1993;  17 215-224
  • 5 Rouvreau P, Glorion C, Langlais J, Noury H, Pouliquen J C. Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases.  J Pediatr Orthop Part B. 1998;  7 179-185
  • 6 Allsopp G M, Griffiths S, Sgouros S. Cervical disc prolapse in childhood associated with Klippel-Feil syndrome.  Child's Nerv Sys. 2001;  17 69-70
  • 7 Nguyen V D, Tyrrel R. Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign.  Skeletal Radiol. 1993;  22 519-523
  • 8 Karasick D, Schweitzer M E, Vaccaro A R. The traumatized cervical spine in Klippel-Feil syndrome: imaging features.  Am J Roentgenol. 1998;  170 85-88
  • 9 Herman M J, Pizzutillo P D. Cervical spine disorders in children.  Orthop Clin North Am. 1999;  30 457-466
  • 10 David K M, Copp A J, Stevens J M, Hayward R D, Crochard H A. Split cervical spinal cord with Klippel-Feil syndrome: seven cases.  Brain. 1996;  119 1859-1872
  • 11 Steinbok P. Dysraphic lesions of the cervical spinal cord.  Neurosurg Clin N Am. 1995;  6 367-376
  • 12 Andronikou S, Fieggen A G. Klippel-Feil syndrome with cervical diastematomyelia in a 8-year old boy.  Pediatr Radiol. 2001;  31 636
  • 13 Larson A RU, Josephson K D, Pauli R M, Opitz J M, Williams M S. Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?.  Am J Med Genet. 2001;  101 158-162
  • 14 Nagashima H, Morio Y, Teshima R. No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine.  Arch Orthop Trauma Surg. 2001;  121 99-101
  • 15 Thomsen M N, Schneider U, Weber M, Johannisson R, Niethard F U. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I - III.  Spine. 1997;  4 396-401
  • 16 Larsen W J. Human Embryology. New York; Churchill Livingstone Inc 1993
  • 17 Nikolic B, Abbara S, Heindel W. et al . The sacral perineural system - are there radiological criteria for an indication for surgery? First results and literature survey.  Fortschr Röntgenstr. 2000;  172 1035 - 1042 and -173 - 278

Patrik Peene

Department of Radiology, Virga Jesseziekenhuis

Stadsomvaart 11

3500 Hasselt

Belgien

Email: patrik.peene@virgajesse.be