脑白质病变医学知识宣讲.ppt

Canavan病 海绵状脑白质营养不良(SLD),脑海绵状变性 罕见的常染色体隐性遗传代谢疾病 基因位于第17号染色体 天门冬氨酰酶缺乏 NAA在脑组织内积聚 NAA酸血症和酸尿症 *N-乙酰天门冬氨酸(NAA) Canavan病 Canavan病 Canavan disease in a 6-month-old boy with macrocephaly ( a ) T2-weighted MR image shows extensive high-signal-intensity areas throughout the white matter, resulting in gyral expansion and cortical thinning. Striking demyelination of the subcortical U fibers is also noted. ( b ) T1-weighted MR image shows demyelinated white matter with low signal intensity. ( c ) Photomicrograph (original magnification, ?200; hematoxylin-eosin stain) shows ballooning of t