ABSTRACT
Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under anti-epileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.
