Ito Yasushi, Kumada Satoko, Uchiyama Akira, Saito Kayoko, Osawa Makiko, Yagishita Akira, Kurata Kiyoko, Hayashi Masaharu
Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan.
Brain Dev. 2004 Jan;26(1):53-6. doi: 10.1016/s0387-7604(03)00075-5.
Brain magnetic resonance imaging was conducted in a girl with genetically confirmed spinal muscular atrophy (SMA) type I. This patient has survived 6 years, to date, under mechanical ventilation. T2-weighted and fluid-attenuated inversion recovery images revealed high signal intensity lesions in the anterolateral portions of the bilateral thalami. Electroencephalography disclosed diffuse beta activity upon awakening and during light sleep. In addition, fast and prolonged spindles were observed. Although mild neuronal changes in the lateral nucleus of the thalamus have been described in several autopsied cases, this is the first study to demonstrate neuroradiologically and neurophysiologically the thalamic lesions in genetically confirmed SMA type I.
对一名经基因确诊为I型脊髓性肌萎缩症（SMA）的女孩进行了脑磁共振成像检查。该患者在机械通气支持下存活至今已有6年。T2加权像和液体衰减反转恢复序列图像显示双侧丘脑前外侧部分有高信号强度病变。脑电图显示觉醒时和浅睡眠期有弥漫性β波活动。此外，还观察到快速且持续时间较长的纺锤波。虽然在几例尸检病例中已描述了丘脑外侧核的轻度神经元变化，但这是第一项通过神经放射学和神经生理学方法证实基因确诊的I型SMA存在丘脑病变的研究。
