Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive malignancy primarily affecting young individuals, typically originating in the abdominal cavity. While spinal involvement by DSRCT is exceedingly rare, especially in pediatric patients, recognizing such atypical presentations is crucial for optimal management. Here, we present a case of DSRCT involving the spinal canal in a 3-year-old female child, representing one of the youngest documented instances in the literature. Initial symptoms included weakness, lower limb pain, and urinary incontinence. Magnetic resonance imaging revealed an enhancing soft tissue lesion in the spinal canal, prompting tumor excision and histopathological examination. The tumor exhibited characteristic features of DSRCT, including small round cells within a desmoplastic stroma. Immunohistochemistry confirmed the diagnosis, showing positivity for Wilms tumor 1, epithelial membrane antigen, desmin, and synaptophysin. This case highlights the challenges in diagnosing and managing rare tumors like spinal DSRCT, emphasizing the importance of a comprehensive approach to differential diagnosis and individualized treatment strategies.

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All authors equally contributed to the conceptualization and design of the study. S.A. provided the definition of intellectual content and performed the literature search. S.A., S.M., V.Y., and C.A. contributed to data acquisition. S.A. and C.A. were involved in data analysis, while C.A. acted as the guarantor for the study. S.A. led the manuscript preparation, with S.M., V.Y., and C.A. contributing to manuscript editing. Manuscript review was carried out by S.A., V.Y., and C.A.

Article published online:
10 October 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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