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目的提高对结节性硬化症(TSC)的认识,减少误诊及漏诊。方法对1例TSC患者及其家系的临床资料及诊疗经过进行回顾性分析。结果本家系四代中患者5例,男性4例,女性1例,其中2例患者儿童期死亡,3例患者早期均被漏诊或误诊。主要临床表现为面部血管纤维瘤、色素脱失斑、癫痫、轻度认知功能障碍。CT检查提示肝、肾错构瘤及双侧侧脑室室管膜下结节状钙化。先证者肾脏病理活检提示肾脏血管平滑肌脂肪瘤。结论识别结节性硬化症特征性的皮肤改变和影像学特征并进行家系调查有助于早期诊断,减少漏诊和误诊。
Objective To raise awareness of tuberous sclerosis (TSC) and reduce misdiagnosis and missed diagnosis. Methods One case of TSC patients and their families were retrospectively reviewed. Results The family of four generations of patients in 5 cases, 4 males and 1 female, of which 2 patients died in childhood, 3 patients were missed or misdiagnosed early. The main clinical manifestations of facial vascular fibroids, depigmentation spots, epilepsy, mild cognitive impairment. CT examination prompted the liver and renal hamartoma and bilateral bilateral subependymal nodular calcification. Proximal renal biopsy prompted renal angiomyolipoma. Conclusion Identifying features of the skin that are characteristic of tuberous sclerosis and imaging features and conducting pedigree investigations can be helpful for early diagnosis and for missed diagnosis and misdiagnosis.