Sugama S, Kusano K, Nemoto K
Department of Pediatrics, Tokyo Metropolitan Kita Medical Rehabilitation Center for the Handicapped.
Rinsho Shinkeigaku. 1995 Feb;35(2):215-7.
There are several reports of the patients who have peculiar clinical presentation, that is, spastic paraparesis, mental disturbance and thinning of corpus callosum. We presented a sporadic case with similar symptoms. He was born by normal vaginal delivery without problems from consanguineous parents. His development had delayed since his infantile period. He started to have spasticity of the legs at the age 13 years and it worsened with advancing age. On examination at age 19, he was mentally slow, his full-scale IQ being 35. The tone in the arms was slightly increased and marked in the legs. The finger to nose test caused mild dysmetria. Rest of the neurological examinations were normal. MRI demonstrated characteristic thinning of corpus callosum, dominant in anterior portion. In addition, it showed wide cavum vergae and cavum septi pellucidi, and abnormal high intensity in periventricular white matter. The findings of MRI were possibly suggestive of the static developmental disturbance of brain.
有几篇关于具有特殊临床表现的患者的报道，即痉挛性截瘫、精神障碍和胼胝体变薄。我们报告了一例具有类似症状的散发病例。他通过正常阴道分娩出生，父母非近亲结婚，出生时无问题。自婴儿期起他的发育就延迟了。13岁时他开始出现腿部痉挛，且随着年龄增长病情加重。19岁接受检查时，他智力迟缓，全量表智商为35。双臂肌张力略有增加，双腿更为明显。指鼻试验出现轻度辨距不良。其余神经系统检查正常。MRI显示胼胝体特征性变薄，以前部为主。此外，还显示有宽的透明隔腔和透明中隔腔，以及脑室周围白质异常高信号。MRI结果可能提示大脑存在静态发育障碍。
