AJDRAJNR - American Journal of Neuroradiology

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Cranial MR Spectroscopy of Tetrahydrobiopterin Deficiency

Yin-Hsiu Chiena, Shiin-Feng Pengb, Tso-Ren Wanga and Wuh-Liang Hwua,c,d

a Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
b Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
c Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
d Department of General Medicine, National Taiwan University College of Medicine, Taipei, Taiwan



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FIG 1. MR imaging findings and MR spectroscopic findings for patient 1.

A, Fluid-attenuated inversion recovery MR image (9000/110 [TR/TE]; inversion time, 2500 ms) of an 8-year-old male patient, obtained through the level of the centrum semiovale in the axial plane. Hyperintense areas (arrowhead) can be seen in the central white matter of the bilateral parietal cortex.

B, Proton MR spectroscopy sampled at the left parietal cortex and central white matter of the same patient. A duplex peak resulting from lactate can be seen at approximately 1.3 ppm (arrow), and active demyelination was suspected.