Sulfite oxidase deficiency--an unusual late and mild presentation.

  title={Sulfite oxidase deficiency--an unusual late and mild presentation.},
  author={Susana Rocha and Ana Cristina Ferreira and Ana Isabel Dias and Jos{\'e} Pedro Vieira and S{\'i}lvia Sequeira},
  journal={Brain & development},
  volume={36 2},
INTRODUCTION Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include… CONTINUE READING