Suzuki T, Higa S, Hayashi A, Nakagawa T, Fujii K
Eur Neurol. 1976;14(2):146-60. doi: 10.1159/000114737.
A case of new dysautonomia-like disorder in a Japanese infant is reported. The patient showed almost all of the essential criteria for the diagnosis of familial dysautonomia. Results of pharmacologic tests and urinary excretion patterns of catecholamines and their metabolites were also compatible with the disorder. But he lacked some important clinical findings, such as lifelong hypolacrimia, skin blotching, excessive sweating and labile blood pressure. Precise observations of clinical features and literatures on non-Jewish cases of familial dysautonomia lent evidence that this case suffered from a new dysautonomia-like disorder.
本文报告了一例日本婴儿患新型类自主神经功能障碍的病例。该患者几乎具备家族性自主神经功能障碍诊断的所有基本标准。药理学测试结果以及儿茶酚胺及其代谢产物的尿排泄模式也与该病症相符。但他缺乏一些重要的临床症状，如终生泪液分泌减少、皮肤斑点、多汗和血压不稳定。对临床特征的精确观察以及关于非犹太人家族性自主神经功能障碍病例的文献表明，该病例患有一种新型类自主神经功能障碍。
