INTERMITTENT CEREBELLAR ATAXIA ASSOCIATED WITH HYPERPYRUVIC ACIDEMIA, HYPERALANINEMIA, AND HYPERALANINURIA

Publisher Website
Google Scholar
Abstract
This report describes the case of a child with optic atrophy and intermittent episodes of ataxia recurring after infection or injury. During one such 8-day episode the child remained under continuous observation until spontaneous regression occurred. The illness was shown to be associated with increased serum levels of pyruvate, lactate, and alanine, together with a tremendous increase in the excretion of these compounds in the urine. Ataxia and mental confusion increased throughout the day, being most severe in the evening. There was a synchronous increase in pyruvicuria and alaninuria during the day; their concentrations decreased in the urine at night. These observations suggested the possibility of a partial block in the oxidative decarboxylation of pyruvic acid and that the encephalopathy was similar to that described by Wernicke in which pyruvate levels are increased in the serum because of deprivation of thiamine. Pharmacologic doses of vitamin B complex had no effect on the concentration of pyruvate on alanine in the urine when the child was considered to be well, but massive doses of thiamine did cause decreases in these concentrations. It is considered possible that this may be the first example of vitamin B1 dependency.

This publication has 0 references indexed in Scilit: