Neuroradiological findings in colpocephaly associated with partial agenesis of the corpus callosum: a clinical case report
Keywords:
Colpocephaly, congenital anomaly, agenesis of the corpus callosum.Abstract
Colpocephaly is a rare congenital anomaly characterized by disproportionate dilation of the occipital horns of the lateral ventricles, frequently associated with partial agenesis of the corpus callosum and neurodevelopmental disorders. The aim of this study is to highlight the importance of neuroimaging in the diagnosis of colpocephaly through the presentation of a clinical case and an updated literature review. We describe the case of a premature patient with compatible clinical and imaging findings, analyzed by magnetic resonance imaging and multidisciplinary follow-up, supported by a structured narrative and complementary literature search between 2021 and 2026. Results showed occipital dilation and absence of the splenium of the corpus callosum, accompanied by early epileptic seizures, psychomotor delay, and moderate intellectual disability. The discussion emphasizes the clinical and prognostic variability, highlighting magnetic resonance imaging and genetic studies as key tools. In conclusion, early diagnosis and comprehensive management are essential to optimize functional outcomes in patients with colpocephaly.
References
Ahmed, A., Thapa, S., Vasilevskaya, A., Alcaide-Leon, P., & Tartaglia, M. C. (2025). Colpocephaly and partial agenesis of corpus callosum with high neurodegenerative marker levels. Canadian Journal of Neurological Sciences, 52(1), 156–158. https://doi.org/10.1017/cjn.2024.22
Al Tamimi, M. F., Abu Aram, S., Abueisha, M., Maraqah, M., Hmedat, S., & Talahma, I. (2026). Multiple midline brain anomalies in a CMV-exposed fetus with successful surgical management: A case report and literature review. International Journal of Surgery Case Reports, 138(3), 749–753. https://doi.org/10.1097/RC9.0000000000000264
Aquino, C., Marisei, M., Tortora, M., Tortora, F., Capasso, E., Surico, D., Briganti, F., Casella, C., & Guida, M. (2025). Multidisciplinary management of agenesis of corpus callosum: A narrative review. Minerva Obstetrics and Gynecology, 77(3), 247–258. https://doi.org/10.23736/S2724-606X.24.05641-0
Bernardes da Cunha, S., Carneiro, M. C., Sa, M. M., Rodrigues, A., & Pina, C. (2021). Neurodevelopmental outcomes following prenatal diagnosis of isolated corpus callosum agenesis: A systematic review. Fetal Diagnosis and Therapy, 48(2), 88–95. https://doi.org/10.1159/000512534
Cai, M., Lin, N., Fu, M., Que, Y., Huang, H., & Xu, L. (2024). Fetal agenesis of corpus callosum: Chromosomal copy number abnormalities and postnatal follow-up. Molecular Biology Reports, 51(1), 872. https://doi.org/10.1007/s11033-024-09821-x
Chen, J., Zhang, W.-H., Bai, Y., Hu, L.-T., He, Y.-Y., Li, J.-J., Zhang, N., Su, N., Liu, Z.-S., & Zhu, H.-M. (2026). Early diagnosis and developmental outcome prediction of agenesis of the corpus callosum via an interpretable deep multimodal fusion model. Frontiers in Neuroscience, 20, 1812374. https://doi.org/10.3389/fnins.2026.1812374
Cobeñas, R. L., Laguna-Kirof, M., Tregea, C., Blanco, M., & Vázquez, N. (2024). El signo del puente colgante: Una nueva perspectiva en el diagnóstico prenatal de la agenesia del cuerpo calloso. Revista Argentina de Radiología, 88(2), 89–91. https://doi.org/10.24875/RAR.23000079
Corroenne, R., Paladini, D., Papastefanou, I., Chaoui, R., Pomar, L., Guibaud, L., Krajden Haratz, K., Pooh, R. K., Herrera, M., Ximenes, R., Azumendi, G., Pilu, G., & Salomon, L. J. (2025). Prenatal evaluation, diagnosis and management of fetal corpus callosal abnormalities: International Delphi consensus. Ultrasound in Obstetrics & Gynecology, 66(5), 582–588. https://doi.org/10.1002/uog.70003
De Keersmaecker, B., Jansen, K., Aertsen, M., Naulaers, G., & De Catte, L. (2024). Outcome of partial agenesis of corpus callosum. American Journal of Obstetrics and Gynecology, 230(4), 456.e1–456.e9. https://doi.org/10.1016/j.ajog.2023.10.007
Díaz Sánchez, M. J., Zaragoza Navarro, A., Botello Ramírez, I., Vadillo Santos, A., Conde Castro, B., Castro Sánchez, J. A., Gaxiola Mascareño, A. P., & Galindo Sarco, C. M. (2023). Colpocefalia en adulto. Acta Médica Grupo Ángeles, 21(4), 379–380. https://doi.org/10.35366/112650
Mirzaei, S., Motaghed, Z., & Zarei, H. (2024). Colpocephaly and corpus callosum dysgenesis in an adult: A rare case report. International Journal of Surgery Case Reports, 124, 110484. https://doi.org/10.1016/j.ijscr.2024.110484
Pânzaru, M.-C., Popa, S., Lupu, A., Gavrilovici, C., Lupu, V. V., & Gorduza, E. V. (2022). Genetic heterogeneity in corpus callosum agenesis. Frontiers in Genetics, 13, 958570. https://doi.org/10.3389/fgene.2022.958570
Pardo, A. C., Agarwal, S., Vollmer, B., Venkatesan, C., Scelsa, B., Lemmon, M. E., Mulkey, S. B., Scher, M., Hart, A. R., Gano, D., & Tarui, T. (2025). Fetal callosal anomalies: A narrative review and practical recommendations for pediatric neurologists. Pediatric Neurology, 165, 117–127. https://doi.org/10.1016/j.pediatrneurol.2025.01.022
Ramírez-Sánchez, M., Rivas-Trujillo, E., & Cardona-Londoño, C. (2019). El estudio de caso como estrategia metodológica. Revista Espacios, 40(23), 1–8. https://www.revistaespacios.com/a19v40n23/a19v40n23p30.pdf
Rashid, R., Bach, A., Gebb, J., Soni, S., Patel, V., Saha, K., Miller, K., Schindewolf, E., Cristancho, A. G., & Agarwal, S. (2026). Agenesis of corpus callosum: A clinical study of complete versus partial agenesis in a 20-year retrospective cohort. Journal of Child Neurology, 41(1), 34–42. https://doi.org/10.1177/08830738251345652
Sangwan, A., & Meena, R. (2024). Colpocephaly in an adult: A rare case report. Radiology Case Reports, 19(5), 2048–2051. https://doi.org/10.1016/j.radcr.2024.02.035
She, Q., Tang, E., Peng, C., Wang, L., Wang, D., & Tan, W. (2021). Prenatal genetic testing in 19 fetuses with corpus callosum abnormality. Journal of Clinical Laboratory Analysis, 35(11), e23971. https://doi.org/10.1002/jcla.23971
Shwe, W. H., Schlatterer, S. D., Williams, J., du Plessis, A. J., & Mulkey, S. B. (2022). Outcome of agenesis of the corpus callosum diagnosed by fetal MRI. Pediatric Neurology, 135, 44–51. https://doi.org/10.1016/j.pediatrneurol.2022.07.007
Sileo, F. G., Di Mascio, D., Rizzo, G., Caulo, M., Manganaro, L., Bertucci, E., Masmejan, S., Liberati, M., D’Amico, A., Nappi, L., Buca, D., Van Mieghem, T., Khalil, A., & D’Antonio, F. (2021). Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta-analysis. Acta Obstetricia et Gynecologica Scandinavica, 100(1), 7–16. https://doi.org/10.1111/aogs.13958
Szczupak, D., Kossmann Ferraz, M., Gemal, L., Oliveira-Szejnfeld, P. S., Monteiro, M., Bramati, I., Vargas, F. R., Lent, R., Silva, A. C., & Tovar-Moll, F. (2021). Corpus callosum dysgenesis causes novel patterns of structural and functional brain connectivity. Brain Communications, 3(2), fcab057. https://doi.org/10.1093/braincomms/fcab057
Tsai, P., & Shinar, S. (2023). Agenesis of the corpus callosum: What to tell expecting parents? Prenatal Diagnosis, 43(12), 1527–1535. https://doi.org/10.1002/pd.6447
Vola, E. A., Griffiths, P. D., Parazzini, C., Palumbo, G., Scola, E., Severino, M., Pinelli, L., D’Errico, I., Di Maurizio, M., Pecco, N., Rossi, A., Triulzi, F., & Righini, A. (2023). Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: A phenotype strongly associated with male fetuses. European Radiology, 33(3), 2258–2265. https://doi.org/10.1007/s00330-022-09173-9
Wright, A., & Booth, R. (2023). Neuropsychological profiles of children with agenesis of the corpus callosum: A scoping review. Developmental Medicine & Child Neurology, 65(9), 1141–1149. https://doi.org/10.1111/dmcn.15532
Yantz, C., Shumate, C., Betancourt, D., Allred, R., Nguyen, J., Agopian, A. J., Salemi, J., & Ahmad, K. (2025). Epidemiology of colpocephaly in the Texas Birth Defects Registry, 1999 to 2020. American Journal of Perinatology, 42(12), 1610–1621. https://doi.org/10.1055/a-2516-1967
Zhang, Y. (2023). Prenatal ultrasound for the diagnosis of the agenesis of corpus callosum: A meta-analysis. Journal of Maternal-Fetal & Neonatal Medicine, 36(2), 2228454. https://doi.org/10.1080/14767058.2023.2228454
Zhou, C., Li, H., Han, R., Ren, H., Shen, B., Wang, X., Feng, F., Wang, M., & Liu, L. (2025). Partial agenesis of the corpus callosum: Prenatal ultrasound characteristics, associations, and outcome. Acta Obstetricia et Gynecologica Scandinavica, 104(7), 1304–1317. https://doi.org/10.1111/aogs.15121
Published
Issue
Section
License
Copyright (c) 2026 Sebastian Rene Flores Droira, Manuel Fabricio Cevallos Loor, Damaris Samantha Ramírez Mena, Lisseth Viviana Castillo Córdoba
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
CC Reconocimiento-NoComercial-SinObrasDerivadas 4.0
.jpg)
![](https://clustrmaps.com/site/1bhn8" title="Visit tracker"><img src="//www.clustrmaps.com/map_v2.png?d=2WTJsN7QOuRFRD2DOJOZtvZ6v94bxB6RU96I-iXx-_s&cl=ffffff"></a>)
