Barbot C, Martins E, Vilarinho L, Dorche C, Cardoso M L
Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal.
Neuropediatrics. 1995 Dec;26(6):322-4. doi: 10.1055/s-2007-979783.
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.
