Haltia-Santavuori disease

(hahl´te-ah sahn″tah-vwo´re) a rare infantile form of neuronal ceroid-lipofuscinosis , beginning about one year of age, with excessive storage of lipofuscin, failure to thrive, myoclonic seizures, muscular hypotonia, psychomotor developmental delay and deterioration, blindness with optic atrophy and cerebellar ataxia, and death within about 5 years.

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