Kang Suk Y, Lee Mee H, Lee Seung K, Sohn Young H
Department of Neurology and Brain Research, Yonsei University College of Medicine, Seoul, South Korea.
Parkinsonism Relat Disord. 2004 Oct;10(7):425-7. doi: 10.1016/j.parkreldis.2004.05.003.
Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and cataract. We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. The present cases are illustrative of a phenotypic heterogeneity in the same family of spastic paraplegia with a thin corpus callosum, despite the identical neuroimaging findings, and also presented another form of autosomal recessive juvenile levodopa-responsive parkinsonism.
伴有胼胝体变薄的遗传性痉挛性截瘫是一种罕见的退行性疾病，其特征为下肢进行性无力伴胼胝体发育不全，常伴有其他症状，如智力障碍、肌萎缩、感觉障碍、排尿困难、眼球震颤和白内障。我们描述了两名同胞（兄妹），他们在MRI上显示胼胝体变薄，其中一人表现为进行性痉挛性截瘫的单纯形式，而另一人则表现为以左旋多巴反应性帕金森综合征为主。尽管神经影像学表现相同，但本病例说明了伴有胼胝体变薄的痉挛性截瘫同一家庭中的表型异质性，同时还呈现了常染色体隐性青少年左旋多巴反应性帕金森综合征的另一种形式。
