A mild form of infantile isolated sulphite oxidase deficiency

Neonatal sulphite oxidase deficiency is characterised by severe neurologic dysfunction, brain atrophy, dislocation of the lens and increased urinary excretion of sulphite, thiosulphate, taurine and S-sulphocysteine, and by a low plasma cystine. We present clinical, neuroradiological and biochemical data of a patient with late onset symptoms comparing this presentation with the neonatal form and stressing the difficulties of the diagnosis of this disorder.