Spinal typical teratoid rhabdoid tumor in a 14-year-old child with down syndrome: A case report

Authors

Soha Zahid, Aga Khan UniversityFollow
Farrah Bashir, Aga Khan UniversityFollow
Naureen Mushtaq, Aga Khan UniversityFollow
Eric Bouffet, Aga Khan UniversityFollow
Mohammad Khurram Minhas, Aga Khan UniversityFollow
Shayan Sirat Maheen Anwar,, Aga Khan UniversityFollow
Gohar Javed, Aga Khan UniversityFollow
Cynthia Hawkins, Hospital for Sick Children,Canada

Document Type

Article

Department

Radiology; Radiation Oncology

Abstract

Individuals with 21 trisomy or Down syndrome (DS) are known to have an increased risk of acute leukemia, while they rarely develop solid or central nervous system (CNS) tumors. Atypical teratoid rhabdoid tumor (ATRT) is a highly aggressive CNS-WHO grade 4 neoplasm, which has never been reported in association with Down syndrome. We present a case study of a 14-year-old female with Down syndrome, diagnosed with intradural-extramedullary spinal ATRT. The chief complaints included bilateral lower limb weakness, constipation, and urinary incontinence for 2 weeks. Surgery was scheduled, and a biopsy was taken. The histopathology, immunohistochemistry, and molecular analysis confirmed the diagnosis of the ATRT-MYC/group 2B subgroup. This report highlights the challenges of managing a patient with complex medical conditions. Moreover, it adds to the existing literature on CNS tumors in patients with Down syndrome.

Comments

Pagination is not provided by author/publisher.

Publication (Name of Journal)

Journal of Pediatric Hematology/Oncology

DOI

10.1097/MPH.0000000000002919

Recommended Citation

Zahid, S., Bashir, F., Mushtaq, N., Bouffet, E., Minhas, M., Anwar,, S. S., Javed, G., Hawkins, C. (2024). Spinal typical teratoid rhabdoid tumor in a 14-year-old child with down syndrome: A case report. Journal of Pediatric Hematology/Oncology, 46(5).
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_radiat_oncol/112