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Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report Cover

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report

Open Access
|Dec 2025

Figures & Tables

Video 1

Video examination of patient with TRPS I cervical dystonia and action tremor. Patient with mild right laterocaput, mild left torticollis, and left shoulder elevation. She had slight restriction of movement with left head turn. She had mild, bilateral low-amplitude slightly jerky action tremor worse with intention as well as mild postural tremor. Writing revealed mild tremor on spirals, but handwriting was otherwise without tremor. Gait was generally normal, but showed left shoulder elevation. Retrognathia, low set ears, and joint hyperextensibility also noted.

tohm-15-1-1116-g1.jpg
Figure 1

A. Sagittal T2 image of the thoracic spine showing syringomyelia extending from the mid cervical spine through the lower lumbar spine. Dashed line shows the level of accompanying axial images. B. Axial T2 image shows a syrinx in the middle of the spinal cord (white arrow). C. Axial postcontrast T1 image showed no abnormal enhancement.

tohm-15-1-1116-g2.jpg
Figure 2

A. Sagittal T2 image of the craniocervical junction with the head in flexion showing low-lying cerebellar tonsils with crowding of the foramen magnum (arrow). B. Sagittal T2 image showing worsening crowding with extension. C. Phase contrast flow image in flexion showing diminished magnitude of flow in the dorsal foramen magnum. D. Phase contrast flow in extension showing worsening of decreased flow in the dorsal foramen magnum.

DOI: https://doi.org/10.5334/tohm.1116 | Journal eISSN: 2160-8288
Language: English
Submitted on: Oct 18, 2025
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Accepted on: Dec 19, 2025
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Published on: Dec 31, 2025
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2025 Bogdana Petko, Brent D. Weinberg, Jaime Vengoechea, Matthew Gary, Paul A. Beach, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.