Two Patients with Intraspinal Germinoma Associated with Klinefelter Syndrome: Case Report and Review of the Literature

SUMMARY: We report 2 cases of intraspinal germinoma associated with Klinefelter syndrome. In one patient, spinal cord atrophy was observed at the upper and lower ends of the intraspinal tumor. Brain atrophy was observed in both cases. Germinoma should be included in the differential diagnosis if an intraspinal tumor is observed in a patient with Klinefelter syndrome. Klinefelter syndrome is a variation of sex chromosome dis-order characterized by hypogonadism, gynecomastia, and azoospermia, and the most frequent karyotype is XXY.1 A pa-tient with Klinefelter syndrome has an increased risk of devel-opingmalignant tumors such as a breast cancer, leukemia, and extragonadal germinoma.2,3 Most of the extragonadal germi-nomas, including those associated with Klinefelter syndrome, are located within the mediastinum.4,5 Germinomas in the central nervous system (CNS) associated with Klinefelter syn-drome, especially in the spinal cord, are extremely rare disor-ders.2,6We report 2 cases of intraspinal germinoma associated with Klinefelter syndrome. In addition, we reviewed the liter-ature with reference to the radiologic features of intraspinal germinoma and clinical features of germinoma in the CNS associated with Klinefelter syndrome