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

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