García-Consuegra J, Padrón M, Jaureguizar E, Carrascosa C, Ramos J
Department of Paediatrics, Hospital Infantil La Paz, Madrid, Spain.
Eur J Pediatr. 1990 Apr;149(7):500-1. doi: 10.1007/BF01959404.
A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase activity in serum and leucocytes. Other characteristic features of Fabry disease were not present. The condition was also diagnosed in his 14-year-old brother and suspected in his maternal grandfather who died at the age of 49 from renal failure of unknown aetiology.
一名10岁男孩出现持续10小时的阴茎异常勃起，经保守治疗无效后，通过大隐静脉-阴茎海绵体分流术得以缓解。据报告，该男孩有4年手指和脚趾间歇性隐痛病史，并伴有低热。血清和白细胞中缺乏α-半乳糖苷酶活性，确诊为法布里病。法布里病的其他特征性表现未出现。其14岁的哥哥也被诊断为此病，其外祖父疑似患有该病，后者49岁时死于病因不明的肾衰竭。
