Der Kaloustian V M, Jarudi N I, Khoury M J, Afifi A K, Bahuth N B, Deeb M E, Shammas J, Mikati M A
Am J Med Genet. 1985 Feb;20(2):325-39. doi: 10.1002/ajmg.1320200216.
We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual impairment, and slowly progressive cerebellar abnormalities with variable dorsal column and upper motor neuron involvement. A third sister had only minor spinocerebellar signs but no eye findings, and three other sibs were completely normal. Both affected sisters underwent penetrating keratoplasty and their vision improved. Histologic examination showed findings of corneal dystrophy including corneal edema, thickening of Descemet membrane, and degenerative pannus. High-resolution light and electron microscopy of muscle and sural nerve performed on both patients was abnormal. It is suggested that, in this family, the corneal dystrophy and spinocerebellar degeneration are pleiotropic manifestations of an autosomal-recessive disorder.
我们报告了一对父母正常但为近亲结婚的姐妹，她们患有脊髓小脑变性和角膜营养不良的罕见组合。她们的表现包括智力发育迟缓、出生后第二年开始出现双侧角膜混浊并导致严重视力障碍，以及缓慢进展的小脑异常，伴有不同程度的后索和上运动神经元受累。第三个姐妹只有轻微的脊髓小脑体征，但没有眼部异常，另外三个兄弟姐妹完全正常。两名患病姐妹均接受了穿透性角膜移植术，视力得到改善。组织学检查显示角膜营养不良的表现，包括角膜水肿、Descemet膜增厚和退行性血管翳。对两名患者进行的肌肉和腓肠神经的高分辨率光镜和电镜检查均异常。提示在这个家族中，角膜营养不良和脊髓小脑变性是常染色体隐性疾病的多效性表现。
