结节性硬化多系统损害伴发热误诊1例并文献复习

Misdiagnosis of Tuberous Sclerousis with Poly-system Defect and Fever:A Case Report and Literature Review

目的 :分析结节性硬化的临床特点 ,以避免其因多系统损害而被误诊为结缔组织病。方法 :回顾性分析 1例误诊为结缔组织病的结节性硬化患者的临床特点和诊治经过并复习相关文献。结果 :患者有典型皮肤表现而被确诊为结节性硬化 4 a,但因有肾、肺、肝等多系统损害并出现不明原因发热而以“结缔组织病待除外”收住风湿免疫科病房 ,检查结果未发现结缔组织病的证据 ,经非甾体抗炎药治疗后体温正常 ,考虑发热不除外组织坏死所致急性无菌性炎症。结论 :对于多系统损害的患者 ,如果难以用一般免疫系统疾病或感染、肿瘤解释 ,应考虑到遗传病等其他疾病的可能。

Objective:To analyze the clinical manifestations of tuberous sclerousis, in order to decrease it′s misdiagnotic rate.Methods:Analyzed a case with tuberous sclerousis who suffered from poly-system defect and fever misdiagnosed as connective tissue disease and reviewed the relative literature.Results:The patient was a 17-year-old girl diagnosed as tuberous sclerousis because of her skin characteristics for 4 years, who had poly-system defect including renal, liver and lung. When she had fever with unknown reason, connective tissue disease was suspected but no evidence found. Fever disappeared when she was given non-steroid anti-inflammaion drugs.Conclusion:For a patient with poly-system defect, genetic disease should be considered as well as connective tissue disease, infective disease and tumor.