Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Brain and Mind Research Center, Nagoya University, Nagoya, Japan.
Epilepsia. 2018 Feb;59(2):440-448. doi: 10.1111/epi.13988. Epub 2018 Jan 8.
To clarify longitudinal changes in white matter microstructures from the onset of disease in patients with West syndrome (WS) of unknown etiology.
Diffusion tensor imaging (DTI) was prospectively performed at onset and at 12 and 24 months old in 17 children with WS of unknown etiology. DTI was analyzed using tract-based spatial statistics (TBSS) and tract-specific analysis (TSA) of 13 fiber tracts, and fractional anisotropy (FA) and mean diffusivity (MD) were compared with those of 42 age-matched controls. Correlations of FA and MD with developmental quotient (DQ) at age 24 months were analyzed. Multiple comparisons were adjusted for using the false discovery rate (q-value).
TBSS analysis at onset showed higher FA and lower MD in the corpus callosum and brainstem in patients. TSA showed lower MD in bilateral uncinate fasciculi (UF) (right: q < 0.001; left: q = 0.03) at onset in patients. TBSS showed a negative correlation between FA at onset and DQ in the right frontal lobe, whereas FA at 24 months old exhibited a positive correlation with DQ in the diffuse white matter. MD for bilateral UF at 24 months old on TSA correlated positively with DQ (q = 0.04, both).
These findings may indicate the existence of cytotoxic edema in the immature white matter and dorsal brainstem at onset, and subsequent alterations in the diffuse white matter in WS of unknown etiology. Microstructural development in the UF might play important roles in cognitive development in WS.
阐明病因不明的婴儿痉挛症（WS）患者从疾病发作开始时的白质微观结构的纵向变化。
对 17 例病因不明的 WS 患儿在发病时、12 个月和 24 个月时进行了扩散张量成像（DTI）前瞻性检查。采用基于束的空间统计学（TBSS）和 13 条纤维束的束特异性分析（TSA）对白质微结构进行分析，比较各向异性分数（FA）和平均弥散度（MD）与 42 名年龄匹配对照者的差异。分析 FA 和 MD 与 24 个月时发育商（DQ）的相关性。采用错误发现率（q 值）对多重比较进行调整。
发病时的 TBSS 分析显示，患者的胼胝体和脑干 FA 较高，MD 较低。发病时的 TSA 显示双侧钩束（UF）（右侧：q < 0.001；左侧：q = 0.03）MD 较低。TBSS 显示发病时 FA 与右侧额叶 DQ 呈负相关，而 24 个月时 FA 与弥散性白质 DQ 呈正相关。TSA 双侧 UF 在 24 个月时的 MD 与 DQ 呈正相关（q = 0.04，均）。
这些发现可能表明病因不明的 WS 患儿在发病时存在不成熟白质和背侧脑干细胞毒性水肿，随后弥散性白质发生改变。UF 的微观结构发育可能在 WS 的认知发育中起重要作用。
