罹患惡性苯丙酮尿症兒童之白質擴散張度影像研究

Abstract

本研究應用擴散張度影像以彰顯罹患惡性苯丙酮尿症兒童之大腦白質變化。 本研究對象為十二例經早期治療且穩定的罹患惡性苯丙酮尿症兒童，評估其擴散張度 影像變化包括 first, second and third eigen values (EVs), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA) in the fronto-parietal, parieto-occipital, frontal and central white matter, and the anterior as well as posterior corpus callosum 以及智力商數並 與年齡相當知健康兒童比較。本研究發現大於三歲的研究群與對照群在EV2, EV3 and FA of the parieto-occipital white matter areas 有明顯差異。此外，在parieto-occipital 白質的 EV3 and ADC of the parieto-occipital white matter 與 verbal intelligence quotient (VIQ; r = -0.79, p = 0.04), and performance intelligence quotient (r = -0.93, p = 0.03), 分別有顯著負 相關. 然而， FA of the parietal central white matter 則與 VIQ 有正相關(r = 0.75, p = 0.05)。

Purpose: Diffusion tensor images (DTIs) are used to demonstrate the supratenorial white matter changes of malignant phenylketonuria (PKU) patients. Materials and Methods: The intelligence and diffusion tensor imaging parameters (including first, second and third eigen values (EVs), apparent diffusion coefficients (ADCs), and fractional anisotropy (FA) in the fronto-parietal, parieto-occipital, frontal and central white matter, and the anterior as well as posterior corpus callosum were assessed in 12 early-treated, chronic, stable malignant PKU patients. Results: Our findings indicated that EV2, EV3 and FA of the parieto-occipital white matter areas were significantly different in study and control groups of patients older than three years of age. In addition, EV3 and ADC of the parieto-occipital white matter were significantly negatively correlated with verbal intelligence quotient (VIQ; r = -0.79, p = 0.04), and performance intelligence quotient (r = -0.93, p = 0.03), respectively. FA of the parietal central white matter was positively correlated with VIQ (r = 0.75, p = 0.05). Conclusion: Though treated early, these chronic, stable malignant PKU patients still had abnormal DT tensor imaging findings in the parieto-occipital central white matter. EV2, EV3 and FA maps are potential tools for demonstrating brain changes stemming from malignant PKU.