Atassia acuta in tirosinemia tipo I. Nuovo aspetto di una rara malattia

The Authors report an unusual case of tyrosinemia type I, chronic form, in which the diagnosis was made only after an episode of acute ataxia. Strict dietary treatment improved the neurologic signs. At the moment there is no evidence of hepatoma.

The Authors stress the diagnostic differential elements underlying the importace of determination of succinylacetone by GC/MS analysis.