Miyama Sahoko, Goto Tomohide
Department of Neurology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
Pediatr Neurol. 2004 Nov;31(5):353-6. doi: 10.1016/j.pediatrneurol.2004.05.010.
We describe a 7-month-old female with leptomeningeal angiomatosis who developed infantile spasms. She did not manifest facial nevus or ocular choroidal angioma. Leptomeningeal angiomatosis is characterized by venous angiomas of leptomeninges and usually accompanied by facial nevus, a condition known as Sturge-Weber syndrome. In Sturge-Weber syndrome, leptomeningeal angiomas can cause infantile spasms but much less frequently than in other neurocutaneous syndromes, such as tuberous sclerosis. This patient is the first reported case of leptomeningeal angiomatosis without facial nevus who developed infantile spasms. Leptomeningeal angiomas should be taken into consideration as a cause of infantile spasms, even in the absence of facial nevus. We suggest that this case is clinically within the spectrum of Sturge-Weber syndrome, and that the embryologic origin of this case is similar to that of Sturge-Weber syndrome.
我们描述了一名患有软脑膜血管瘤病且出现婴儿痉挛症的7个月大女性。她没有表现出面部痣或眼部脉络膜血管瘤。软脑膜血管瘤病的特征是软脑膜静脉血管瘤,通常伴有面部痣,这种情况称为斯特奇-韦伯综合征。在斯特奇-韦伯综合征中,软脑膜血管瘤可导致婴儿痉挛症,但比其他神经皮肤综合征(如结节性硬化症)的发生频率要低得多。该患者是首例报道的无面部痣却发生婴儿痉挛症的软脑膜血管瘤病病例。即使没有面部痣,软脑膜血管瘤也应被视为婴儿痉挛症的一个病因。我们认为该病例在临床上属于斯特奇-韦伯综合征范畴,且该病例的胚胎起源与斯特奇-韦伯综合征相似。