新生兒臉部皮膚上出生時即有的葡萄酒色斑(port-wine stain)並非少見,但若是合併有軟腦膜血管瘤(leptomeningeal angiomatosis)或是先天性青光眼(congenital glaucoma),則為一種罕見而且預後不好的新生兒疾病-Sturge-Weber症候群,其中軟腦膜血管瘤一般都在發生抽筋後才想到及檢查。本院嬰兒房於去年出生一名女嬰,出生後即被發現有明顯的葡萄酒色斑,包括左半邊全臉、右下半邊臉、左右耳及上胸。左眼亦被發現先天性青光眼,因此被高度懷疑是Sturge-Weber症候群。經兩月大時由三倍劑量顯影劑之核磁共振造影,診斷出左側大腦枕葉、頂葉及後顳葉已有血管瘤之侵犯顯影,因此我們便在病患未發生抽筋前就診斷出此症候群。
A female newborn, delivered at our delivery room, was highly suspected Sturge-Weber syndrome due to glaucoma, buphthalmos of left eye, obvious port-wine nevus of left face. ear right lower face, ear and anterior upper chest wall. MRI of brain with triple doses gadolinium contrast was performed on the 2 months old and revealed leptomeninges enhancement (angiomatosis) of left parietal, occipital, posterior temporal area and choroid plexus. We diagnosed the patient with leptomeningeal angioma at newborn age before seizure attack.