Surgical Treatment of Intramedullary Spinal Metastasis in Medulloblastoma: Case Report and Review of the Literature

Medulloblastomas are common childhood central nervous system tumors that are prone to leptomeningeal spread. Intramedullary dissemination is rare with very few case reports existing in the available literature. The authors here present a case of a 14-year-old boy with Li-Fraumeni syndrome and medulloblastoma who underwent surgical resection of spinal intramedullary spread. Histopathology revealed the tumor to be anaplastic medulloblastoma, same as the intracranial lesions. Genetic testing of the metastatic deposit revealed loss of functions mutations in SUFU, NOTCH3, and TP53 and TERC amplification. An improvement in ambulatory function at short-term follow-up was noted before the patient died of disseminated disease. Intramedullary metastasis of medulloblastoma remains a rare disease. Surgical resection might play a possible role in management in addition to radiation and chemotherapy. •CNS dissemination of medulloblastoma is mostly leptomeningeal.•We discuss rare intramedullary spinal dissemination from a medulloblastoma in 14-year old patient with Li-Fraumeni syndrome.•We also describe the first case of complete surgical resection of the rare metastasis from medulloblastoma.•Cytogenetic profile of the metastatic deposit also is discussed.