Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812147
Movement Disorders

Tethered Cord in CTNNB1 Neurodevelopmental Disorder, a Not-so-Rare Comorbidity: Results of a Parent Survey and a Clinical Example

Authors

  • S. Cornaz Buros

    1   Inselspital, Universitätsspital Bern, Neuropediatrie, Kinderklinik, Julie von Jenner Haus, Bern, Switzerland

  • S. Eggli

    1   Inselspital, Universitätsspital Bern, Neuropediatrie, Kinderklinik, Julie von Jenner Haus, Bern, Switzerland

  • S. Mirosevic

    2   University Children's Hospital, University Medical Centre Ljubljana, Pediatrics, Ljubljana, Slovenia

  • C. Scherer

    3   Inselspial, University hospital, Pediatric surgery, Bern, Switzerland

  • D. Osredkar

    4   University Children's Hospital, University Medical Centre Ljubljana, Pediatric Neurology, Ljubljana, Slovenia

  • P. Schucht

    5   Inselspital, University Hospital Bern, Neurosurgery, Bern, Switzerland

  • T. Petutschnigg

    5   Inselspital, University Hospital Bern, Neurosurgery, Bern, Switzerland

  • A. Klein

    1   Inselspital, Universitätsspital Bern, Neuropediatrie, Kinderklinik, Julie von Jenner Haus, Bern, Switzerland

  • S. Grunt

    1   Inselspital, Universitätsspital Bern, Neuropediatrie, Kinderklinik, Julie von Jenner Haus, Bern, Switzerland

  • K. Lutz

    5   Inselspital, University Hospital Bern, Neurosurgery, Bern, Switzerland
Further Information
 
 

Background/Purpose: CTNNB1 neurodevelopmental disorder is a rare genetic condition caused by mutations in the CTNNB1 gene, which leads to a wide spectrum of neurological and developmental abnormalities. While the disorder is known to cause movement impairments, its potential association with tethered cord syndrome (TCS) has not been previously described.

Methods: We present a case study of a child with CTNNB1 neurodevelopmental disorder (CTNNB1 ND) who was diagnosed with TCS and successfully treated with detethering surgery. To further investigate the prevalence of spinal anomalies, including TCS in children with CTNNB1, we conducted an anonymized e-mail-based parent survey through the CTNNB1 Foundation.

Results: According to the parent survey, 52% (40/76) of children with CTNNB1 ND had undergone spinal MRI. Overall, 62.5% (25/40) of the patients who underwent an MRI scan were found to have spinal abnormalities, and 40% (16/40) had a confirmed TCS or fatty filum terminale. These findings suggest that spinal anomalies, particularly TCS, may be an underrecognized feature of CTNNB1-related disorders. Furthermore, we propose a potential underlying mechanism through abnormal Wnt/β-catenin signaling. Our case example further demonstrated that detethering surgery led to improvements in mobility and quality of life, highlighting the clinical relevance of early recognition and intervention.

Conclusion: This study provides preliminary evidence suggesting a potential link between CTNNB1 mutations and tethered cord formation. Given the implications for patient care, we recommend considering spinal imaging in individuals with CTNNB1 neurodevelopmental disorder, particularly in patients with progressive spasticity or bladder dysfunction. Further research is warranted to elucidate the molecular mechanisms underlying this association and to establish clinical guidelines for screening and management.


No conflict of interest has been declared by the author(s).

Publication History

Article published online:
26 September 2025

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