It is well known that Down syndrome is sometimes associated with leukemia. However, there have been only a few case reports of a relationship between Down syndrome and brain tumors. The case was that of a 35-year-old man with Down syndrome complaining of gait disturbance. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a mass lesion in the pineal and bilateral cerebello-pontine cistern and spinal cord, marked hydrocephalus. Endoscopic biopsy and third ventriculostomy was performed. Surgical specimens showed typical germinoma. The patient was treated with a combination of chemotherapy with carboplatin and etposide, and irradiation. However he finally died 35 months after these therapies. Cases of malignant tumors other than leukemia, which are associated with Down syndrome, are extremely rare. We reviewed such rare cases of Down syndrome and intracranial germ cell tumor.
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