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.
Isolated sulphite oxidase deficiency - Sulphite - S-sulphocysteine - Globus pallidus
- Magnetic resonance imaging
