Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.

目的 探討嬰兒型脊髓性肌萎縮癥的臨床国产一级免费啪啪、電生理特點(diǎn)及基因診斷的臨床意義玖玖www。

Results One case with infantile onset had macrocephaly. The CT scan and MRI showedprominent low-density white matter throughout the cerebral hemispheres. MRI showed prominent also increased T2 signal in the periventricular whitematter. Another patient had an onset at school-age. The CT scan demonstrated brain atrophy. Histological examination on brain biopsy revealed diffuse demyelination and fibrous gliosis.

結(jié)果1例嬰兒期起病者頭顱大精品黄色福利x，CT掃描示前額明顯的廣泛性腦白質(zhì)密度減低特征三级黄视频一区二区三，MRI示腦室旁白質(zhì)T2高信號；另1例學(xué)齡期起病久久精品性，CT掃描顯示腦萎縮日韩一区高清在线播放免费，腦活檢光鏡下發(fā)現(xiàn)脫髓鞘和膠質(zhì)細(xì)胞增生，電鏡下觀察到大量Rosenthal纖維及不規(guī)則的顆粒狀沉積物99色综合精品视频。