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Proton Magnetic Resonance Spectroscopy and Diffusion-Weighted Imaging in Isolated Sulfite Oxidase Deficiency

Department of Neurology Massachusetts General Hospital Harvard Medical School Boston, Massachusetts

Wen-Hann Tan, MRCPCH

Genetics Training Program Harvard Medical School Boston, Massachusetts

Vivian E. Shih, MD

Department of Neurology Massachusetts General Hospital Harvard Medical School Boston, Massachusetts

P. Ellen Grant, MD

Department of Neurology Massachusetts General Hospital Harvard Medical School Boston, Massachusetts

Kalpathy Krishnamoorthy, MD

Department of Neurology Massachusetts General Hospital Harvard Medical School Boston, Massachusetts, kkrishnamoorthy{at}partners.org

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. (J Child Neurol 2006;21:801—805; DOI 10.2310/7010.2006.00174).

Journal of Child Neurology, Vol. 21, No. 9, 801-805 (2006)
DOI: 10.1177/08830738060210090601


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