摘要
结节性硬化症(TSC)是一种罕见的遗传性疾病,可于皮肤、脑、眼、口腔、心脏、肺脏、肾脏、肝脏和骨骼等多部位器官发生良性血管平滑肌脂肪瘤,主要表现为癫痫、智力障碍、皮肤白斑和面部血管纤维瘤等症状,发病率为1/10 000～1/6 000 新生儿.本例展示了一例中年女性,以癫痫、结节样白斑起病,后期出现下腹包块、肌酐升高、重度贫血,根据临床特征和全外显子组测序明确原发病为TSC,实验室和影像学检查明确下腹包块为子宫来源,CT引导下穿刺活检病理和手术病理考虑平滑肌瘤伴脓肿.患者多器官受累,存在主线诊断之外诸多合并症,该例患者的诊治过程体现了严谨的临床思维和多学科协作在疑难罕见病诊疗过程中的重要意义.
Abstract
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin,brain,eyes,oral cavity,heart,lungs,kidneys,liver,and bones.Its main symptoms include epilepsy,intellectual disabilities,skin depigmentation,and facial angiofibromas,whilst inci-dence is approximately 1 in 10 000 to 1 in 6000 newborns.This case presents a middle-aged woman who initial-ly manifested with epilepsy and nodular depigmentation.Later,she developed a lower abdominal mass,elevated creatinine,and severe anemia.Based on clinical features and whole exome sequencing,the primary diagnosis was confirmed as TSC.Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus.CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess.With the involvement of multiple organs and various complications beyond the main diagnosis,the di-agnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multi-disciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
维普
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