多發性結節性硬化症合併躁症表現

A Patient with Tuberous Sclerosis Complex with Manic Features

背景：多發性結節性硬化症侵犯多重器官，包括心、肺、腦、皮膚及腎臟等，但之前的 文獻報告少以躁症的症狀呈現。個人報告：本案例是一多發性結節性硬化症合併情緒疾患的 年輕女性，早期呈現靜坐不能、注意力不集中、轉圈圈等怪異行徑，被懷疑是失神性癲癇發 作，但藥物治療卻無法獲得有效控制。由於合併皮膚的病灶，於10 歲時被確診為結節性硬 化症患者，18 歲時出現首次躁症發作。結論：若病人身上出現特定皮膚表徵又合併癲癇發 作，須考慮多發性結節性硬化症。次發性躁症發作可能也與此疾病相關，但仍須更多基因研 究證實。

Background: Tuberous sclerosis complex is a genetic disorder affecting multiple organs including the heart, lungs, brain, skin, and kidneys. But manic features are seldom documented in a previous literature review. Case Report: The female adolescent patient had tuberous sclerosis complex manifesting with manic symptoms. Her initial presentation included akathisia, poor concentration and queer behavior such as spinning around during her preschool years. She did not get a satisfactory treatment effect with medication under an original suspicion of absence seizure. Based on cutaneous fi ndings such as hypomelanotic macules, a shagreen patch and facial angiofi bromas, the diagnosis of tuberous sclerosis complex was confi rmed at age 10 years. Her fi rst manic episode appeared when she was 18 years old. Conclusion: Clinicians should be alert to have the possibility of tuberous sclerosis complex with the presentation of any specifi c cutaneous fi ndings along with seizure attacks. Secondary mania may be associated with tuberous sclerosis complex although further genetic research are needed to clarify the etiological relationship.