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American Journal of Neuroradiology 25:1569-1574, October 2004
© 2004 American Society of Neuroradiology

PEDIATRICS

Diffusion Tensor Images in Children with Early-Treated, Chronic, Malignant Phenylketonuric: Correlation with Intelligence Assessment

Steven Shinn-Forng Peng^a, Wen-Yih Isaac Tseng^a, Yin-Hsiu Chien^b, Wuh-Liang Hwu^c and Hon-Man Liu^a

^a Departments of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei
^b Departments of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei
^c Departments of Medical Genetics

Address reprint requests to Hon-Man Liu, Department of Medical Imaging, National Taiwan University Hospital, 7 Chung-Shan South Rd, Taipei 100, Taiwan

BACKGROUND AND PURPOSE: Diffusion tensor (DT) images can provide information about the nature of white matter changes, including axonal loss and demyelination. We applied DT imaging to verify white matter changes in patients with malignant phenylketonuria (PKU) and to correlate the findings with clinical intelligence quotients (IQs).

METHODS: We compared DT images with T2-weighted images in 12 patients with early-treated, chronic, stable malignant PKU and 12 age-matched control subjects. DT parameters included first, second, and third eigenvalues (EV1–3), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA). Regions of interest were placed the frontoparietal, parieto-occipital, frontal and central white matter and in the anterior and posterior corpus callosum. Eight patients older than 3 years underwent IQ assessment including verbal, performance, and full-scale IQ tests.

RESULTS: In the eight patients older than 3 years, no definite abnormal signal intensity changes were found on T2-weighted images. EV2, EV3, and FA of the parieto-occipital white matter were significantly different in patients and control subjects older than 3 years. EV3 and ADC of the parieto-occipital white matter were significantly and negatively correlated with verbal IQ (r = –0.79, P = .04) and performance IQ (r = –0.93, P = .03). FA of the parieto-occipital central white matter was positively correlated with verbal IQ (r = 0.75, P = .05).

CONCLUSION: Though treated early, patients with chronic, stable malignant PKU had abnormal DT findings in the parieto-occipital central white matter. EV2, EV3, and FA maps are potential tools for demonstrating brain changes due to malignant PKU.

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