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We report on a case of primary putaminal degeneration as a cause of severe childhood\u2010onset generalized dystonia and review the literature of the pathology of dystonia. A 44\u2010year\u2010old patient with severe generalized childhood\u2010onset dystonia and macrocephaly underwent neurological evaluation and neuropathological examination. Neurological examination was normal apart from dystonia and signs referable to prior cryothalamotomy. Workup for metabolic and genetic causes of dystonia was negative. Neuroimaging showed severe bilateral putaminal degeneration, which subsequently correlated with the neuropathological findings of gliosis, spongiform degeneration, and cavitation. The substantia nigra pars compacta contained a normal number of neurons but decreased tyrosine hydroxylase immunoreactivity. 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