Article Figures & Data
Figures
- 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.
Tables
MR imaging and spectroscopy data for individual patients affected by tetrahydrobiopterin deficiency
Patient No. MR Images Lactate Peak NAA:CRE NAA:CHO NAA:MI MI:CRE MI:CHO CHO:CRE Patient Age (yr) at MR Imaging Patient Age (yr) at IQ Test MR Image Phe (μmol/L) Average Phe (μmol/L) VIQ PIQ FSIQ Average Dosage (mg/kg/day) 5-HTP BH4 Levodopa 1 White matter T2 ↑ + 1.259 1.442 1.444 0.872 0.999 0.873 8.5 7.7 177 119 64 55 56 1.72 8.30 1.43 2 Negative − 1.553 ↑ 1.389 1.118 8.5 6.9 108 103 84 86 83 1.20 4.04 0.65* 3 Negative − 1.779 ↑ 1.500 1.888 0.942 0.794 1.186 8.5 6.9 99 69 58 64 57 1.74 7.84 1.21* 4 Prominent sulcation + 5.944 ↑ 10.30 ↑ 2.316 2.567 4.447 0.577 8 6.4 65 104 74 83 76 2.33 9.53 2.43 5 Prominent sulcation − 1.487 2.659 ↑ 0.799 1.860 3.328 0.559 5 5.3 45 104 78 82 78 2.92 10.53 2.19 6 Negative − 0.645 ↓ 0.681 ↓ 1.523 5 4.0 83 102 92 106 98 2.25 9.35 1.49 7 Negative − 1.692 ↑ 3.192 ↑ 4.577 0.370 0.697 0.530 5 3.6 6 106 80 95 92 1.94 9.02 2.64 8 Negative − 1.452 1.525 ↑ 1.248 1.163 1.222 0.952 4 74 62 2.31 9.42 2.07 Note.—NAA indicates N-acetylaspartate; CRE, creatine; CHO, choline; MI, myo-inositol; IQ, intelligence quotient; Phe, phenylalanine; VIQ, verbal intelligence quotient; PIQ, performance intelligence quotient; FSIQ, full-scale intelligence quotient; BH4, tetrahydrobiopterin; 5-HTP, 5-hydroxytryptophan.
↵* Patients 2 and 3 stopped 5-HTP supplementation at the ages of 7 and 6 years, respectively.
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