脑白质病变医疗课件.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 the myelin sheaths of oligodendrocytes due to massive intramyelinic edema. 女 7月 尿NAA升高 MRS示：NAA峰明显升高，符合Canavan disease改变。 球样细胞脑白质营养不良(Krabbes disease) 常染色体隐性遗传性脑白质营养不良，基因定位在14号染色体。 因缺乏半乳糖(基)脑苷脂酶溶酶体酶(GALC)导致半乳糖基鞘氨醇积聚，造成中枢神经和周围神经损害。 多婴儿时起病，迟发型少见。 组织学上：有髓鞘破坏，胶质增生，受累白质血管周围具有特征性的多聚核细胞“球样细胞”（巨噬细胞）浸润。 FIG 1. MR T2半卵园区双侧对称高信号 FIG 2. FLAIR 侧脑室旁白质对称高信号 FIG 3. MR T1+C 侧脑室旁白质无增强 Krabbes disease A 16-month-old male patient The 27-year-old man first noted weakness of the right leg at age 23, with insidious progression of spasticity, more pronounced on the right side than the left. Motor-evoked response was abnormal on the left side. Krabbes disease迟发型 A and B, Coronal T2-weighted images (3648/99/2) of adjacent sections, A posterior to B, show nearly symmetrical involvement of the corticospinal tract from the cortex (A) to the brain stem (asterisks). C, Axial T2-weighted image (2100/90/2) at pontine level shows symmetrical pyramidal involvement (arrowhead). 亚急性坏死性脑脊髓病Leigh病 是一种少见的、病因不明的常染色体隐性遗传性神经系统变性疾患 由于线粒体不能产生正常的过氧化物酶而致 主要累及婴儿及儿童 为脑脊髓灰质及白质病变，累及基底节、脑干和脊髓。少数以周围神经起病 CT常示双侧对称性基底节低密度灶，无增强 MR 双侧壳核、苍白球、尾状核T2 高信号、T1 低信号.  ( a ) MR T2： 双侧壳核和苍白球 高信号. Leigh病 Leigh disease in a 2-year-old boy ( b ) MR T1 双侧壳核和苍白球 低信号. 常染色体显性遗传性脑动脉病伴 皮质下梗塞和白质变性 （Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy，CADASIL) 一种非动脉硬化性、非淀粉样变血管病 主要侵犯基底节及皮质下深穿