Pfund Zoltán, Kagawa Kenji, Juhász Csaba, Shen Chenggang, Lee Joon Soo, Chugani Diane C, Muzik Otto, Chugani Harry T
Department of Pediatrics, Children's Hospital of Michigan, Detroit Medical Center, Wayne State University School of Medicine, Detroit, MI 48201, USA.
J Child Neurol. 2003 Feb;18(2):119-26. doi: 10.1177/08830738030180021501.
The progressive nature of Sturge-Weber syndrome is well known, but the mechanisms of focal cortical and subcortical degeneration in this disorder are poorly understood. In the present study, we assessed the structural and functional integrity of gray and white matter in unihemispheric Sturge-Weber syndrome using quantitative magnetic resonance imaging (MRI) volumetry and MRI-based partial volume correction of [18F]fluorodeoxyglucose positron emission tomographic (PET) images. Gray- and white-matter volumes and glucose metabolism were measured in three brain regions (parieto-occipital underneath the angioma, temporal, and frontal) in six children with Sturge-Weber syndrome (two infants, ages 6 and 9 months; four older children, ages 4 to 14 years), all with unilateral parieto-occipital leptomeningeal angiomatosis. The gray-matter volumes ipsilateral to the angioma were smaller in all children, with the posterior regions underneath the angioma the most affected. In the infants, the white-matter volumes were increased in the region of the angioma, whereas in the regions remote from the angioma in the infants and in all regions of the older children, there were large decreases in white-matter volume. The decreases of frontal and temporal white-matter volume were more pronounced than the corresponding gray-matter volume decreases. The PET studies showed severe hypometabolism in the parieto-occipitalregion underneath the angioma in all of the children. However, the two infants showed glucose hypermetabolism in the frontal and temporal cortical gray matter, whereas these regions had relatively preserved metabolism in the older patients. These results demonstrate differential involvement of gray and white matter in Sturge-Weber syndrome. Both structural and functional abnormalities extend well beyond the angioma, indicating widespread abnormalities of growth and development of the affected hemisphere. Furthermore, whereas increased white-matter volume underlying the angioma may be seen in infants, ipsilateral white-matter regions outside the angioma show volume loss both in infants and in older patients. Extensive gray- and white-matter volume loss and hypometabolism ipsilateral to the angioma likely contribute to the frequently observed progressive cognitive dysfunction in these patients, regardless of the extent of the angioma.
斯特奇-韦伯综合征的进行性本质是众所周知的，但其局灶性皮质和皮质下变性的机制却鲜为人知。在本研究中，我们使用定量磁共振成像（MRI）容积测量法和基于MRI的[18F]氟脱氧葡萄糖正电子发射断层扫描（PET）图像的部分容积校正，评估了单侧半球斯特奇-韦伯综合征患者灰质和白质的结构与功能完整性。对6名斯特奇-韦伯综合征患儿（2名婴儿，年龄分别为6个月和9个月；4名大龄儿童，年龄为4至14岁）的三个脑区（血管瘤下方的顶枕叶、颞叶和额叶）的灰质和白质体积以及葡萄糖代谢进行了测量，所有患儿均患有单侧顶枕叶软脑膜血管瘤病。所有患儿血管瘤同侧的灰质体积均较小，血管瘤下方的后部区域受影响最为严重。在婴儿中，血管瘤区域的白质体积增加，而在婴儿远离血管瘤的区域以及大龄儿童的所有区域，白质体积大幅减少。额叶和颞叶白质体积的减少比相应灰质体积的减少更为明显。PET研究显示，所有患儿血管瘤下方的顶枕叶区域均存在严重的代谢减低。然而，两名婴儿的额叶和颞叶皮质灰质出现葡萄糖代谢亢进，而在大龄患者中这些区域的代谢相对保留。这些结果表明，斯特奇-韦伯综合征中灰质和白质受累情况不同。结构和功能异常均远远超出血管瘤范围，表明患侧半球存在广泛的生长发育异常。此外，虽然婴儿可能出现血管瘤下方白质体积增加，但血管瘤外同侧的白质区域在婴儿和大龄患者中均出现体积减少。无论血管瘤范围如何，血管瘤同侧广泛的灰质和白质体积减少以及代谢减低可能是这些患者常见的进行性认知功能障碍的原因。
