Lee Chang-Woo, Choi Du-Young, Oh Yeon-Geun, Yoon Hyang-Suk, Kim Jong-Duk
Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea.
J Korean Med Sci. 2005 Dec;20(6):1082-4. doi: 10.3346/jkms.2005.20.6.1082.
Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.
斯特奇-韦伯综合征可伴有面部葡萄酒色斑和颅内钙化,同时并发克-特-韦综合征的病例也有报道。克-特-韦综合征是一种罕见的先天性中胚层错构瘤病,其特征为皮肤血管瘤、静脉迂曲扩张以及受累肢体的软组织或骨质肥大。本文报告了一例罕见的4个月大婴儿,同时患有斯特奇-韦伯综合征、克-特综合征和色素血管性错构瘤病。患儿右腿、面部及背部部分区域可见火焰状痣,右半球软脑膜血管瘤,右腿肥大,左侧半身惊厥,同时伴有先天性青光眼和太田痣。非常罕见的同时合并这三种错构瘤病的病例已有报道。