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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Prenatal brain disruption in isolated sulfite oxidase deficiency

Fig. 1

The initial and follow-up brain MRIs of our index case. a-c The initial brain MRI at age of 9 days. Axial images, FLAIR image (TE 110 ms, TR 8802 ms) (a) and T2-weighted image (TE 100 ms, TR 6000 ms) (b), show cystic lesions over the left frontal and temporal areas, diffuse and obvious high signal intensity over bilateral cerebral cortex, and signal change over the bilateral globus pallidi. Single-voxel proton magnetic resonance spectroscopy of the cortical gray matter (c) reveals elevated Choline (Cho) and abnormally low N-acetylaspartate (NAA) peaks, together with a large lactate (Lac) doublet at intermediate echo time (TE 144 ms). d. The follow-up brain MRI at age of 4 months. Axial FLAIR image (TE 122 ms, TR 9002 ms) shows ventricular dilatation, dramatic cerebral cortical atrophy, multicystic lesions over bilateral occipital areas, and subdural hemorrhage

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