Hamel B C, Sengers R C, Stadhouders A M, Jaspar H H, Ter Laak H J, Trijbels J M, Gabreëls-Festen A W
Helv Paediatr Acta. 1978 Feb;32(6):487-93.
The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared. In suralis nerve biopsy sections no abnormalities were found. In muscle biopsy sections the characteristic findings of a primary central neuronal muscular atrophy were seen. Based on clinical and histopathological findings it may be stated that the patient is suffering from a motor neuron disease. The chance of the combined occurrence of oculocutaneous albinism and motor neuron disease can be estimated to be one out of 750 X 10(6), unless an incestuous relation is supposed.
所描述的患者是一名14岁女孩，患有眼皮肤白化病。发育里程碑达成稍有延迟。逐渐地，她出现疲劳，骨盆带肌肉萎缩和肌无力。腓肠神经活检切片未发现异常。肌肉活检切片可见原发性中枢神经元性肌肉萎缩的特征性表现。基于临床和组织病理学发现，可以说该患者患有运动神经元病。除非存在乱伦关系，否则眼皮肤白化病和运动神经元病合并发生的几率估计为750×10⁶分之一。
