结节性硬化症并发重度缺铁性贫血1例报告并文献复习

Tuberous sclerosis complex complicated with severe iron deficiency anemia:A case report and literature review

目的:探讨结节性硬化症(TSC)的临床、影像和骨髓细胞学特征。方法:对1例TSC患者行影像学检查、骨髓细胞瑞氏染色,并复习相关文献。结果:患者有典型的TSC临床表现(面部皮脂腺瘤、特征性影像学异常),同时并发重度缺铁性贫血。经支持治疗后贫血症状改善。结论:TSC是常染色体显性遗传性疾病,常累及多个系统,可导致缺铁性贫血等全身性疾病。

Objective To investigate the clinical features,image features,and pathological features of bone marrow of tuberous sclerosis complex（TSC）.Methods One TSC patient＇s imageological examination was taken,and the bone marrow cells were stained by Wright staining,and the associated literatures were reviewed.Results The obvious clinical manifestations such as facial sebaceous gland tumor and unusual characteristic imageological examination were observed.The severe iron deficiency anemia was observed and improved after support treatment.Conclusion As an autosomal dominant disease,TSC can affect several organ systems and cause systemic diseases such as iron-deficiency anemia.