European review for medical and pharmacological sciences · 2002
The abortive form of Bourneville-Pringle syndrome.
СтатьяНазвание и аннотация: Перевод в очереди
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Giusti C
Аннотация
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.
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.