Abstract.
Two patients with phenylketonuria were studied who were under dietary control since infancy, and who were mentally normal. Diffusion MRI was obtained using a spin-echo, echo-planar sequence with a gradient strength of 30 mT/m at 1.5 T. A trace sequence (TR=5700 ms, and TE=139 ms) was used, acquired in 22 s. Heavily diffusion-weighted (b=1000 mm2/s) images, and the apparent diffusion coefficient (ADC) values from automatically generated ADC maps were studied. There were two different patterns in these two patients, restricted and increased diffusion patterns. Restricted diffusion pattern consisted of high-signal on b=1000 s/mm2 images with low ADC values ranging from 0.46 to 0.57×10−3 mm2/s. Increased diffusion pattern consisted of normal b=1000 s/mm2 images with high ADC values ranging from 1.37 to 1.63×10−3 mm2/s. It is likely that these values reflected presence of two different histopathological changes in phenylketonuria or reflected different stages of the same disease.
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Phillips MD, McGraw P, Lowe MJ, Mathews VP, Hainline BE (2001) Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. Am J Neuroradiol 22:1583–1586
Pearsen KD, Gean-Marton AD, Levy HL, Davis KR (1990) Phenylketonuria: MR imaging of the brain with clinical correlation. Radiology 177:437–440
Shaw DW, Maravilla KR, Weinberger E, Garretson J, Trahms CM, Scott CR (1991) MR imaging in phenylketonuria. Am J Neuroradiol 12:403–406
Kendall BE (1992) Disorders of lysosomes, peroxisomes, and mitochondria. Am J Neuroradiol 13:621–653
Corselis JAN (1953) The pathological report of a case of phenylpyruvic oligophrenia. J Neurol Neurosurg Psychiatry 16:139–143
Alford EC, Stevenson LD, Vogel FS, Engle RL (1950) Neuropathological findings in phenylpyruvic oligophrenia (phenylketonuria). J Neuropathol Exp Neurol 9:298–310
Poser CM, Van Bogaert L (1959) Neuropathological observations in phenylketonuria. Brain 82:1–9
Le Bihan D, Breton E, Lallemand D, Grenier P, Cabanis E, Laval-Jeantet M (1986) MR imaging of intravoxel incoherent motions: application to diffusion and perfusion in neurologic disorders. Radiology 161:401–407
Lovblad KO, Laubach HJ, Baird AE, Curtin F, Schlaug G, Edelman RR, Warach S (1998) Clinical experience with diffusion-weighted MR in patients with acute stroke. Am J Neuroradiol 19:1061–1066
Provenzale JM, Petrella JR, Cruz LCH, Jr, Wong JC, Engelter S, Barboriak DP (2001) Quantitative assessment of diffusion abnormalities in posterior reversible encephalopathy syndrome. Am J Neuroradiol 22:1455–1461
Cramer SC, Stegbauer KC, Schneider A, Mukai J, Maravilla KR (2001) Decreased diffusion in central pontine myelinolysis. Am J Neuroradiol 22:1476–1479
Castillo M, Smith JK, Kwock L,Wilber K (2001) Apparent diffusion coefficients in the evaluation of high-grade cerebral gliomas. Am J Neuroradiol 22:60–64
Filippi CG, Edgar MA, Ulug AM, Prowda PC, Heier LA, Zimmerman RD (2001) Appearance of meningiomas on diffusion-weighted images: correlating diffusion constants with histopathologic findings. Am J Neuroradiol 22:65–72
Sener RN (2001) Diffusion MRI: apparent diffusion coefficient (ADC) values in the normal brain, and a classification of brain disorders based on ADC values. Comput Med Imaging Graph 25:299–326
Morriss MC, Zimmerman RA, Bilaniuk LT, Hunter JV, Haselgrove JC (1999) Changes in brain water diffusion during childhood. Neuroradiology 41:929–934
Branco G (2000) An alternative explanation of the origin of the signal in diffusion-weighted MRI. Neuroradiology 42:96–98
Casey S (2001) "T2 washout": an explanation for normal diffusion-weighted images despite abnormal apparent diffusion coefficient maps. Am J Neuroradiol 22:1450–1451
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Sener, R.N. Diffusion MRI findings in phenylketonuria. Eur Radiol 13 (Suppl 6), L226–L229 (2003). https://doi.org/10.1007/s00330-002-1778-3
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DOI: https://doi.org/10.1007/s00330-002-1778-3