Lenoir G, Rivron M, Gubler M C, Dufier J L, Tome F S, Guivarch M
Arch Fr Pediatr. 1977 Oct;34(8):704-16.
A 19 year old male affected with Fabry's disease suffered from severe nervous manifestations. Despite very peculiar pains of the extremities, the diagnosis has been missed for a long time and was painted out at this age because of sharp reconstitution of the family history. Fabry's disease was confirmed by discovering typical corneal lesion, a low leucocyte (W.B.C.) alpha-galactosidase activity and foam cells in renal glomerular epithelium. The importance of an early diagnosis is obvious in this case: 10 Instead of degrading narcotic therapy, Carbamazepin brought forward normal social and school living. 20 Familial investigations show up that all the siblings were affected (three boys including the propositus)--several symptoms were found in the heterozygous conductor mother. Despite the rarety of Fabry's disease, the authors emphasize the easiness of diagnosis on simple clinical and biochemical grounds. The authors insist on the symptomatic and therapeutic action of Carbamazepin or Diphenytoin in order to prevent painfull symptoms which often appear during initial course of the disease.
一名患有法布里病的19岁男性出现了严重的神经症状。尽管有非常特殊的肢体疼痛，但很长一段时间都未确诊，直到这个年龄才因家族病史的清晰重建而得以诊断。通过发现典型的角膜病变、低白细胞（W.B.C.）α-半乳糖苷酶活性以及肾小球上皮中的泡沫细胞，确诊为法布里病。在这种情况下，早期诊断的重要性显而易见：10 卡马西平非但没有使麻醉治疗恶化，反而使患者恢复了正常的社交和学校生活。20 家族调查显示，所有兄弟姐妹都受到了影响（包括先证者在内的三个男孩）——在杂合子携带者母亲身上也发现了一些症状。尽管法布里病罕见，但作者强调基于简单的临床和生化依据很容易做出诊断。作者坚持卡马西平或苯妥英钠的对症和治疗作用，以预防疾病初始阶段经常出现的疼痛症状。
