Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

@article{Hoffmann2007MagneticRI,
  title={Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.},
  author={Chen Hoffmann and Bruria Ben-Zeev and Yair Anikster and Andreea Nissenkorn and Natan Brand and Jacob Kuint and Tammar Kushnir},
  journal={Journal of child neurology},
  year={2007},
  volume={22 10},
  pages={1214-21}
}
Isolated sulfite oxidase deficiency is a rare genetic neurometabolic disease. The first symptoms of this disorder (similar to symptoms of ischemic events) may lead to misdiagnosis and to subsequent birth of affected children in these families. This study characterizes the magnetic resonance (MR) imaging and (for the first time, to our knowledge) the MR spectroscopy features of isolated sulfite oxidase deficiency to provide a means for early and correct diagnosis. Three patients with isolated… CONTINUE READING

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