A primary intracranial atypical teratoid/rhabdoid tumor was encountered in a child (age 4 years and 9 months) with Canavan disease. The tumor contained a large spindled cell component as well as classical rhabdoid morphology and focal areas resembling a primitive neuroectodermal tumor. The rhabdoid areas of the neoplasm were immunoreactive with antibodies against epithelial membrane antigen and vimentin, in the classically described pattern. Ultrastructurally these portions of the tumor displayed the characteristic perinuclear whorls of intermediate filaments reported in rhabdoid tumors of all body sites. Thought to be purely coincidental, this is also the first description of any intracranial neoplasm associated with Canavan disease.

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