Giusti C
Department of Ophthalmology, Campus Bio-Medico University, Rome, Italy.
Eur Rev Med Pharmacol Sci. 2002 Sep-Oct;6(5):101-4.
BACKGROUND/METHODS: To present a 26-year-old woman affected by the abortive form of Bourneville-Pringle syndrome. To our knowledge, this disease is unusual since only very few cases have been reported in the scientific literature at this time.
RESULTS/CONCLUSIONS: Visual acuity was 20/20 in both eyes. No relevant ocular abnormalities were observed excepting two retinal hamartomas, a smaller one in the nasal midperiphery of the right eye and a larger one located along the super-temporal retinal vessels of the left eye. Classical signs of Bourneville-Pringle disease, such as mental retardation and epilepsy, were absent whereas a slight facial adenoma sebaceum and renal cysts represented the solely systemic manifestations of the disease. This case report confirms that retinal phakomata are a typical manifestation of Tuberous Sclerosis, even in the absence of a detected involvement of the brain.
背景/方法：报告一名26岁患Bourneville-Pringle综合征顿挫型的女性。据我们所知，这种疾病较为罕见，因为目前科学文献中仅有极少病例报道。
结果/结论：双眼视力均为20/20。除了两个视网膜错构瘤外，未观察到相关眼部异常，一个较小的位于右眼鼻侧周边部，一个较大的沿左眼颞上视网膜血管分布。Bourneville-Pringle病的典型体征，如智力发育迟缓及癫痫并不存在，而轻微的面部皮脂腺瘤和肾囊肿是该疾病仅有的全身表现。本病例报告证实，即使未检测到脑部受累，视网膜错构瘤也是结节性硬化症的典型表现。
