Stănescu-Segall B
Clinique Fondation Lambert, Bruxelles.
Oftalmologia. 1996 Jul-Sep;40(3):261-3.
It was effected one study for fifteen children between two month and six years old with different diseases MDH (metabolic hereditary diseases) GM2 (Tay-Sachs and Sandhoff) (amaurotic idiocy), ceroid lipofuscinosis (Spielmeyer-Vogt-Batten-Mayou). Leigh maladie and other forms by MHD with unspecified diagnosis. It was effected neurologic exam, enzymatic measures, conjunctival biopsy, ophthalmologic exam with electroretinogram and evoked potentials. It was found an important element by differential diagnosis between gangliosidosis with normal ERG and ceroid lipofuscinosis with perturbate ERG. ERG is frequent precocious adulterated.
对15名年龄在2个月至6岁之间患有不同疾病的儿童进行了一项研究，这些疾病包括MDH（代谢性遗传疾病）、GM2（泰-萨克斯病和桑德霍夫病）（黑蒙性痴呆）、类蜡样脂褐质沉积症（施皮尔曼-沃格特-巴滕-马尤病）、 Leigh病以及其他未明确诊断的MHD形式。进行了神经学检查、酶学检测、结膜活检、眼科检查及视网膜电图和诱发电位检测。发现正常视网膜电图的神经节苷脂沉积症与视网膜电图异常的类蜡样脂褐质沉积症之间的鉴别诊断有一个重要因素。视网膜电图常常早熟性异常。
