Jansen P H, van der Knaap M S, de Coo I F
Department of Neurology, Ziekenhuis Gelderse Vallei, Ede, Netherlands.
J Neurol Sci. 1996 Feb;135(2):176-80. doi: 10.1016/0022-510x(95)00287-c.
A mother and her son are reported who suffer from Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. In both subjects additional clinical and paraclinical evidence of a cerebral demyelinating disease was found. This combination has been reported incidentally in females, rarely in males. Magnetic resonance imaging and proton spectroscopy findings are reported. These findings are compatible with multiple sclerosis.
据报道，有一位母亲和她的儿子患有伴有11778线粒体DNA突变的Leber遗传性视神经病变（LHON）。在这两名患者中，均发现了脑脱髓鞘疾病的额外临床和辅助临床证据。这种组合在女性中曾有过偶然报道，在男性中则很少见。本文报告了磁共振成像和质子波谱检查结果。这些结果与多发性硬化症相符。
