Morbus Bourneville: a case report and review of the literature
Sofoudis, C.; Kalampokas, T.; Boutas, I.; Kalampokas, E.; Salakos, N.
Clinical and Experimental Obstetrics and Gynecology 41(1): 95-97
2014
ISSN/ISBN: 0390-6663 PMID: 24707696 Document Number: 676770
Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC), also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant disorder classically characterized by the presence of hamartomatous growths in multiple organs. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, and lung and kidney diseases. The authors present a case of a 18 year-old female patient with a history of TS, epileptic episodes, mental retardation, and papillary formations in multiple organs located at the abdominal, axillary, cervical, facial, and genital region.