Schnitzler A, Witte O W, Kunesch E, Freund H J, Benecke R
Department of Neurology, Heinrich-Heine-University, Duesseldorf, Germany.
J Neurol Sci. 1998 Feb 5;154(2):205-8. doi: 10.1016/s0022-510x(97)00230-x.
We report a 21-year-old woman presenting with a slowly progressive tetraparesis, optic nerve atrophy on both sides, and autonomic disturbances since early childhood. The patient has been carefully followed up for 5 years with clinical and ancillary investigations. The results and the time course strongly suggest an underlying degenerative syndrome affecting parts of three major systems: autonomic, motor and visual. Some symptoms resemble familial dysautonomia (FD, Riley-Day syndrome), however, hallmarks of FD, such as absence of fungiform papillae of the tongue, abnormal reaction on intradermal histamine injection, absent tendon reflexes, are missing, and central motor disturbances have not been described in FD. We consider this syndrome a slowly progressive multisystemic degeneration with two unusual hitherto unreported features: the combination of affected systems (autonomic and motor systems, optic nerves), and the early onset.
我们报告了一名21岁女性，自幼出现缓慢进展的四肢轻瘫、双侧视神经萎缩和自主神经功能障碍。对该患者进行了5年的仔细临床及辅助检查随访。结果及病程强烈提示存在一种影响自主神经、运动和视觉这三个主要系统部分的潜在退行性综合征。某些症状类似于家族性自主神经功能障碍（FD， Riley - Day综合征），然而，FD的特征，如舌蕈状乳头缺失、皮内注射组胺反应异常、腱反射消失等并不存在，且FD中未描述过中枢运动障碍。我们认为该综合征是一种缓慢进展的多系统变性疾病，具有两个迄今未报道的不寻常特征：受累系统（自主神经和运动系统、视神经）的组合以及发病早。
