Hori A, Bardosi A, Goebel H H, Roessmann U
Brain Dev. 1986;8(6):624-30. doi: 10.1016/s0387-7604(86)80011-0.
A 4-year-old boy with a history of muscular hypotonia, mental retardation, microcephaly, and generalized convulsions was found at autopsy to have agyria, agenesis of the anterior commissure and posterior corpus callosum as well as an abnormal decussation of pyramidal tracts which descended in the spinal dorsal columns. Postmortem muscular alterations included type IIc fiber hypertrophy and type I fiber grouping, variably expressed in individual muscles and intramuscular fascicles. This may represent a developmental delay compatible with a gestational age between the 34th and 40th week. These studies also indicate the importance of examining multiple samples of postmortem muscles and muscles from patients afflicted with cerebral malformations.
一名4岁男孩,有肌张力减退、智力发育迟缓、小头畸形和全身性惊厥病史,尸检发现无脑回、前连合和胼胝体后体发育不全,以及锥体束在脊髓背柱下行时交叉异常。死后肌肉改变包括IIc型纤维肥大和I型纤维群组化,在个体肌肉和肌内束中表现各异。这可能代表与孕34至40周之间胎龄相符的发育延迟。这些研究还表明,检查死后肌肉和患有脑畸形患者的肌肉的多个样本很重要。