Fuchigami T, Mazaki R, Nishimura A, Noguchi Y, Fuchigami S, Fujita Y, Okubo O, Harada K
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
Acta Paediatr Jpn. 1996 Feb;38(1):52-6. doi: 10.1111/j.1442-200x.1996.tb03435.x.
A mother and daughter with agenesis of the corpus callosum are reported. There have only been 11 prior case reports of the familial occurrence of agenesis of the corpus callosum in the absence of extracranial malformations. Most of these reports have described familial occurrence among siblings. The present communication is only the second description of a parent and child with agenesis of the corpus callosum. A review of the published cases of familial syndrome unrelated agenesis of the corpus callosum indicates that both mental, developmental and neurologic disorders in cases involving parent and child are milder than those in cases involving siblings. Of additional interest, electroencephalography performed in this patient during sleep, frequently revealed bilateral asynchronous sleep spindles, supporting the hypothesis of previous investigators that the synchronicity of sleep spindles requires intact intercerebral commissures.
报道了一对患有胼胝体发育不全的母女。此前仅有11例关于家族性胼胝体发育不全且无颅外畸形的病例报告。这些报告大多描述的是兄弟姐妹之间的家族性发病情况。本报告是第二例关于父母与子女均患有胼胝体发育不全的描述。对已发表的与家族综合征无关的胼胝体发育不全病例的回顾表明，涉及父母与子女的病例中，精神、发育和神经障碍比涉及兄弟姐妹的病例更为轻微。另外值得注意的是，该患者睡眠期间进行的脑电图检查经常显示双侧睡眠纺锤波不同步，这支持了先前研究者的假设，即睡眠纺锤波的同步性需要完整的大脑间连合。
