Abstract

VACTERL association is a non-random constellation of congenital anomalies, typically involving at least three of the following systems: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb abnormalities. While defined by structural defects, emerging evidence suggests increased rates of correlations with neurodevelopmental and psychiatric conditions. Bipolar disorder is a chronic mood disorder marked by recurrent episodes of mania or hypomania and depression, with pathophysiology involving fronto-limbic dysregulation, neurotransmitter imbalance, neuroinflammation, mitochondrial dysfunction, and impaired neuroplasticity. We report a case of Bipolar I Disorder in a 21-year-old man with VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula) and normal cognitive development. He presented with a two-week manic episode with psychotic features and responded well to lithium and olanzapine. To our knowledge, this is the first case reported a potential link between VACTERL association and a bipolar disorder. This case highlights the need for increased awareness of possible psychiatric comorbidities in patients with complex congenital anomalities and underscores the importance of incorporating neuropsychiatric screening into VACTERL patient care.

Keywords: VACTERL, Bipolar disorder, Neuropsychiatric Disorders, general surgery, Case report

Downloads

Download data is not yet available.

References

  1. Solomon B. D. (2011). VACTERL/VATER Association. Orphanet journal of rare diseases, 6, 56. https://doi.org/10.1186/1750-1172-6-56
  2. Solomon, B. D., Baker, L. A., Bear, K. A., Cunningham, B. K., Giampietro, P. F., Hadigan, C., Hadley, D. W., Harrison, S., Levitt, M. A., Niforatos, N., Paul, S. M., Raggio, C., Reutter, H., & Warren-Mora, N. (2014). An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. The Journal of pediatrics, 164(3), 451–7.e1. https://doi.org/10.1016/j.jpeds.2013.10.086
  3. Kassa, A. M., & Lilja, H. E. (2023). Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study. PloS one, 18(6), e0288061. https://doi.org/10.1371/journal.pone.0288061
  4. McIntyre, R. S., Berk, M., Brietzke, E., Goldstein, B. I., López-Jaramillo, C., Kessing, L. V., Malhi, G. S., Nierenberg, A. A., Rosenblat, J. D., Majeed, A., Vieta, E., Vinberg, M., Young, A. H., & Mansur, R. B. (2020). Bipolar disorders. Lancet (London, England), 396(10265), 1841–1856. https://doi.org/10.1016/S0140-6736(20)31544-0
  5. Parikh, P., Wubuli, D., & Pansuriya, P., et al. (2025). New-onset bipolar with psychotic features in adolescence years after Chiari I malformation surgery: A case report and literature review. International Journal of Case Reports, 17, (06), 33763-33765.https://doi.org/10.24941/ijcr.49230.07.2025
  6. Jain A, Mitra P. Bipolar Disorder. [Updated 2023 Feb 20]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK558998/
  7. World Health Organization. (2024). Bipolar disorder [Fact sheet]. https://www.who.int/news‑room/fact‑sheets/detail/bipolar‑disorder
  8. Schiweck, C., Arteaga-Henriquez, G., Aichholzer, M., Edwin Thanarajah, S., Vargas-Cáceres, S., Matura, S., Grimm, O., Haavik, J., Kittel-Schneider, S., Ramos-Quiroga, J. A., Faraone, S. V., & Reif, A. (2021). Comorbidity of ADHD and adult bipolar disorder: A systematic review and meta-analysis. Neuroscience and biobehavioral reviews, 124, 100–123. https://doi.org/10.1016/j.neubiorev.2021.01.017
  9. Dunalska, A., Rzeszutek, M., Dębowska, Z., & Bryńska, A. (2021). Comorbidity of bipolar disorder and autism spectrum disorder - review paper. Współwystępowanie choroby afektywnej dwubiegunowej i zaburzeń ze spektrum autyzmu – przegląd badań. Psychiatria polska, 55(6), 1421–1431. https://doi.org/10.12740/PP/OnlineFirst/122350
  10. Quan, L., & Smith, D. W. (1973). The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. The Journal of pediatrics, 82(1), 104–107. https://doi.org/10.1016/s0022-3476(73)80024-1
  11. Stevenson, R. E., & Hunter, A. G. (2013). Considering the Embryopathogenesis of VACTERL Association. Molecular syndromology, 4(1-2), 7–15. https://doi.org/10.1159/000346192
  12. Sun, M., Zhao, Q., Yang, B., Liu, L., Zhou, C., Yao, X., Bu, J., Bian, J., Ge, S., Zhu, Z., & Liu, B. (2025). Molecular mechanism, diagnosis, and treatment of VACTERL association. Frontiers in pediatrics, 13, 1609624. https://doi.org/10.3389/fped.2025.1609624
  13. Ritter, J., Lisec, K., Klinner, M., Heinrich, M., von Schweinitz, D., Kappler, R., & Hubertus, J. (2023). Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association. Children (Basel, Switzerland), 10(5), 882. https://doi.org/10.3390/children10050882
  14. Loepke, A. W., & Soriano, S. G. (2008). An assessment of the effects of general anesthetics on developing brain structure and neurocognitive function. Anesthesia and analgesia, 106(6), 1681–1707. https://doi.org/10.1213/ane.0b013e318167ad77
  15. Sprung, J., Flick, R. P., Katusic, S. K., Colligan, R. C., Barbaresi, W. J., Bojanić, K., Welch, T. L., Olson, M. D., Hanson, A. C., Schroeder, D. R., Wilder, R. T., & Warner, D. O. (2012). Attention-deficit/hyperactivity disorder after early exposure to procedures requiring general anesthesia. Mayo Clinic proceedings, 87(2), 120–129. https://doi.org/10.1016/j.mayocp.2011.11.008
  16. Dawson, S., Glasson, E. J., Dixon, G., & Bower, C. (2009). Birth defects in children with autism spectrum disorders: a population-based, nested case-control study. American journal of epidemiology, 169(11), 1296–1303. https://doi.org/10.1093/aje/kwp059
  17. Timonen-Soivio, L., Vanhala, R., Malm, H., Leivonen, S., Jokiranta, E., Hinkka-Yli-Salomäki, S., Gissler, M., Brown, A. S., & Sourander, A. (2015). The association between congenital anomalies and autism spectrum disorders in a Finnish national birth cohort. Developmental medicine and child neurology, 57(1), 75–80. https://doi.org/10.1111/dmcn.12581
  18. Magioncalda, P., & Martino, M. (2022). A unified model of the pathophysiology of bipolar disorder. Molecular psychiatry, 27(1), 202–211. https://doi.org/10.1038/s41380-021-01091-4
  19. Oliva V, Fico G, De Prisco M, Gonda X, Rosa AR, Vieta E. Bipolar disorders: an update on critical aspects. Lancet Reg Health Eur. 2024;48:101135. Published 2024 Nov 29. doi:10.1016/j.lanepe.2024.101135
  20. Frey, B. N., Andreazza, A. C., Nery, F. G., Martins, M. R., Quevedo, J., Soares, J. C., & Kapczinski, F. (2007). The role of hippocampus in the pathophysiology of bipolar disorder. Behavioural pharmacology, 18(5-6), 419–430. https://doi.org/10.1097/FBP.0b013e3282df3cde

Most read articles by the same author(s)

How to Cite
Parikh, P., Mathew, N. M., Dadem, A. R., Manepalli, S., Narravula, R., Wubuli, D., … Oza, M. (2025). Bipolar Disorder in a Patient with VACTERL Syndrome: A Case Report. International Journal of Innovative Research in Medical Science, 11(09), 352–355. https://doi.org/10.23958/ijirms/vol10-i09/2116

Copyrights & License

Copyright © 2025 Parinda Parikh Namitha Maria Mathew Ananya Reddy Dadem Sahia Manepalli Rithika Narravula Dilinuer Wubuli Himani J Suthar Shaurya Kumar Singh Eunsaem Lee Arushi Chandra-Kaushik Avish Chandra Ishant Buddhavarapu Mahiya Buddhavarapu Mina Oza this is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.