於三天大罹患結節性硬化症之新生兒早期偵測視神經旁之星狀細胞缺陷瘤

Early Detection of Peripapillary Astrocytic Harmatoma in a 3 Day-Old Newborn with Tuberous Sclerosis Complex

目的：於三天大新生兒偵測非典型視神經旁星狀細胞缺陷瘤，並之後進而診斷結節性硬化症。方法：回顧性病例報告。結果：三天大新生兒經由心臟超音波發現許多心內贅生物，在瞳孔放大後，發現右眼視神經旁存在一個圓形凸起、半透明、無鈣化之腫瘤，此為不典型之星狀細胞缺陷瘤，病患之後發現腦室管膜下結節與白色斑塊，進而確定診斷結節性硬化症。結論：結節性硬化症是一種罕見多系統疾病，會造成非癌化腫塊與皮膚異常，能於三天大罹患結節性硬化症之新生兒，能用照片建檔此少見視神經旁星狀細胞缺陷瘤純屬不易。

Background and purpose: To report an atypical finding of peripapillary astrocytic harmatoma to establish the diagnosis of tuberous sclerosis complex in a 3 day-old newborn. Methods: Retrospective observational case report. Results: A 3-day-old newborn with multiple intracardiac vegetations were found by cardiac echo accidentally. After pupil dilation, the existence of a round, elevated and semitranslucent tumor without calcification was demonstrated in the right eye optic disc. This appearance was an unusual finding of the astrocystic harmatoma. Then the diagnosis of tuberous sclerosis complex was established by the late identified findings of cranial subependymal nodules and hypomelanotic macules. Conclusions: Tuberous sclerosis complex is a multi-system disease that causes non-neoplastic tumors and skin abnormalities. Photographic documentation of unusual findings of peripapillary astrocytic harmatoma is rare to demonstrate in a 3-day-old newborn with tuberous sclerosis complex