Neuro / Head & Neck for Friday, June 5th, 2026

Contributed by Vanderbilt University Medical Center
Lauren Hatcher, MD, Asha Sarma, MD, and Alexandra M Foust, DO.

History

18-year-old female with history of genitourinary abnormalities and facial dysmorphisms presenting with abnormal movements. Specifically, when she moves one hand intentionally, the other hand unintentionally mirrors the movement.

Images (Click any image to enlarge)

Image 1: Axial T2W MRI demonstrates a dorsal cleft at the cervicomedullary junction.
Image 2: Sagittal STIR MRI demonstrates non-segmentation of the C2 and C3 vertebrae with “wasp waist” sign and absent intervening disc.
Image 3: Coronal CT maximum intensity projection of the cervical spine shows posterior element segmentation anomalies.

Question

Which of the following syndromes is associated with a dorsal cleft at the cervicomedullary junction (a form of cervicomedullary neuroschisis)?

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Correct answer

Klippel-Feil Syndrome

Discussion

Klippel-Feil syndrome (KFS) is a congenital spinal malformation resulting in segmentation failure of two or more cervical vertebrae, most commonly C2-3 and C5-6 (1). Sagittal imaging of the vertebral bodies typically shows the “wasp waist” sign with inferior narrowing of the involved cephalad vertebral body, superior narrowing of the involved caudad vertebral body, and rudimentary or absent intervening disc space. The posterior elements are also incompletely segmented. Clinically, patients with KFS classically present with a triad of short neck, decreased neck range of motion, and low posterior hairline (50%) (2).

In this case, the patient presented with the classic KFS triad as well as mirror movements. Mirror movements, also called synkinesis, refer to involuntary movements on one side of the body which mirror intentional movements on the opposite side. On imaging, mirror movements have been associated with a dorsal cervicomedullary cleft (a form of neuroschisis) on MRI (3). Cervicomedullary neuroschisis has been reported in approximately 20-38% of patients with KFS, and multiple case reports demonstrate a clinical association with mirror movements (3,4).

Other KFS associations include scoliosis, syringomyelia, Sprengel deformity (elevated scapula), omovertebral bone, genitourinary tract abnormalities, and congenital heart disease (5).

Differential diagnosis

  1. Juvenile idiopathic arthritis

  2. Ankylosing spondylitis

  3. Sequelae of prior spinal infection/discitis

Additional images

Additional case of a 7-year-old female with toe-walking and goal-directed movement of one hand with involuntary partial mirroring by the other hand. Image 1: Sagittal T1-weighted MRI demonstrates a dorsal cleft at the cervicomedullary junction. Notably, this is a case of isolated neuroschisis in a child without Klippel-Feil syndrome.
Image 2: Axial T2-weighted MRI demonstrates both ventral (red arrow) and dorsal (blue arrow) clefts.

References

  • Litrenta J, Bi AS, Dryer JW. Klippel-Feil syndrome: pathogenesis, diagnosis, and management. J Am Acad Orthop Surg. 2021;29(22):951-960.
  • Melchiorre S, Russo M, Santilli M, Polito G, Ciprietti C, Calisi D, et al. Neurological and neuropsychological correlates of Klippel-Feil syndrome. Neurol Sci. 2025;46(11):6047-6051.
  • Royal SA, Tubbs RS, D'Antonio MG, Rauzzino MJ, Oakes WJ. Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. AJNR Am J Neuroradiol. 2002;23(4):724-729.
  • Ulmer JL, Elster AD, Ginsberg LE, Williams DW 3rd. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr. 1993;17(2):215-224.
  • Nouri A, Patel K, Evans H, Saleh M, Kotter MRN, Heary RF, et al. Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. Eur Spine J. 2019;28(10):2257-2265.