儿童神经病学首页:Ethylmalonic脑病

(一)临床过程的示意图表示。(B)片状红斑的躯干和四肢皮疹。(C)的轴向部分大脑MRI显示模糊的领域改变信号强度在室周的地区,邻近的锋角、和侧脑室心房双边轻度缺乏白质,在11个月大的时候。在52个月时,大脑MRI显示双边对称,片状hyperintensity尾状核,没有证据表明扩散限制,或者和微妙的hyperintensity侧脑桥出血。增强的一个小焦点是指出正确的尾状核头。双边对称hyperintensity还指出在室周的白质。大脑核磁共振在60个月的年龄显示hyperintensity持久性的尾状核和微妙hyperintensity脑桥背。增强的程度和强度postcontrast序列增加了。(D)横向切割骨骼肌组织显示正常(a)琥珀酸脱氢酶(SDH)(×200)和(b)正常细胞色素c氧化酶(COX) SDH(×200)染色模式;活组织检查(c)部分显示轻度纤维尺寸的变化对苏木精和伊红染色(×200)和(d, e) SDH和COX-SDH揭示降低强度(×200)。 (f) Electron microscopy shows electron-dense structure in the mitochondria (arrow; ×12,000). (E) Sequence electropherogram of c.493 G>C variation shows (arrow) wild-type in control, homozygous mutant in patient, and heterozygous in father and mother. (F) Western blot analysis of skeletal muscle extracts of ETHE1 protein shows a very low level of expression in the patient compared to control; OXPHOS complex I, II, and IV was reduced and CIII had mild reduction in the patient compared to control. VDAC was used as loading control. ADC = apparent diffusion coefficient; DWI = diffusion-weighted imaging; FLAIR = fluid-attenuated inversion recovery; ICU = intensive care unit; PROM = premature rupture of membranes; T2W = T2-weighted.