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Case Reports
. 2006 Sep;21(9):801-5.
doi: 10.1177/08830738060210090601.

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency

Florian Eichler  1 , Wen-Hann Tan, Vivian E Shih, P Ellen Grant, Kalpathy Krishnamoorthy
Affiliations
Case Reports

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency

Florian Eichler et al. J Child Neurol. 2006 Sep.

Abstract

Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the ratio of N-acetylaspartate to creatine, and a rise in the ratio of choline to creatine. This precedes severe cystic encephalomalacia and suggests that the energy failure associated with neuronal dysfunction and myelin disintegration occurs early in isolated sulfite oxidase deficiency.

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