Dubost J J, Sauvezie B, Galtier B, Tixeron J, Rampon S
Rev Rhum Mal Osteoartic. 1986 Oct;53(10):525-8.
A man aged 54 years presented multiple symptoms (acroparesthesia, familial deafness, cardiomyopathy, diarrhea, adenopathy with infiltration of frothy macrophages, pancytopenia with a dense marrow, chronic meningitis, renal failure) associated with intermittent fever, with feverish attacks and a temperature of 40 degrees C, and with a severe biologic febrile syndrome. Fabry's disease was diagnosed only after 3 years of fruitless explorations. The reasons for this delay are analysed and it is suggested than Fabry's disease be added to the list of conditions responsible for fever or for a persistent inflammatory syndrome.
一名54岁男性出现多种症状（肢端感觉异常、家族性耳聋、心肌病、腹泻、伴有泡沫状巨噬细胞浸润的淋巴结病、骨髓致密的全血细胞减少、慢性脑膜炎、肾衰竭），伴有间歇性发热，发热发作时体温达40摄氏度，并有严重的生物学发热综合征。经过3年毫无结果的检查后才诊断出法布里病。分析了诊断延迟的原因，并建议将法布里病列入导致发热或持续性炎症综合征的疾病清单中。
