Spinal myxopapillary ependymoma with Down syndrome: exploring an unusual association

In patients with Down syndrome, cancers like leukemia and testicular tumors are frequent, but association with central nervous system tumors is rare. Only 1 case of ependymoma has been observed as an incidental autopsy finding in a 19-week-old female fetus. We herein report the second case of ependymoma and the fifth case of spinal tumor occurring in association with Down syndrome. We have also attempted to elucidate the various mechanisms of tumorigenesis implicated in this multiple malformation syndrome. A 13-year-old girl with Down syndrome presented with progressively increasing paraparesis and neurogenic bladder. Magnetic resonance imaging of dorsolumbar spine revealed an intramedullary mass (L1 to L5 level). The patient underwent near total excision of tumor with postoperative histopathology showing myxopapillary ependymoma. Karyotyping showed classic Down syndrome with trisomy 21. Postoperative irradiation (45 Gy in 25 fractions over 5 wk followed by boost up to 55 Gy) was subsequently delivered. One year after the completion of the tumor-directed therapy, the patient is in radiologic complete remission, with improved power in both lower limbs. Association of ependymoma with Down syndrome is a rarity, which at best, can be explained as a chance phenomenon.